ArticleThe Journal of clinical endocrinology and metabolism2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
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In one paragraph
Article in The Journal of clinical endocrinology and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed
6.3field-weighted citation impact, top 3% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
51 citing papers in PubMed, 97 citations in OpenAlex.
- Effect of metreleptin treatment in congenital generalized lipodystrophy: a retrospective analysis from the MENA region.Journal of endocrinological investigation · 2026Observational
- A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.JIMD reports · 2026Article
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- The Role of theInternational journal of molecular sciences · 2025Review
- Effects of Metreleptin in Patients With Generalized Lipodystrophy Before vs After the Onset of Severe Metabolic Disease.The Journal of clinical endocrinology and metabolism · 2025Article
- Assessment of aortomesenteric distance and mesenteric and retroperitoneal adipose tissue thickness in genetic forms of lipodystrophy.Journal of endocrinological investigation · 2025Article
- The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.Frontiers in endocrinology · 2025Review
- Peroxisome proliferator-activated receptor gamma mutation in familial partial lipodystrophy type three: A case report and review of literature.World journal of diabetes · 2024Article
- Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.Orphanet journal of rare diseases · 2024Article
- Impact of lipodystrophy on health-related quality of life: the QuaLip study.Orphanet journal of rare diseases · 2024Observational
- Echocardiographic Alterations of Cardiac Geometry and Function in Patients with Familial Partial Lipodystrophy.Arquivos brasileiros de cardiologia · 2024Article
- Waist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women.Diabetology & metabolic syndrome · 2023Article
- Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in theJournal of clinical research in pediatric endocrinology · 2023Article
- Frequency and characteristics of diabetes in lipodystrophies and insulin receptoropathies compared with type 1 and type 2: results from the multicenter DPV registry.Endocrine connections · 2023Article
- Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain.Frontiers in endocrinology · 2023Article
- Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report.Frontiers in endocrinology · 2023Article
- Gene therapy restores adipose tissue and metabolic health in a pre-clinical mouse model of lipodystrophy.Molecular therapy. Methods & clinical development · 2022Article
- Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy.Diabetology & metabolic syndrome · 2022Article
Corrections and comments
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Authors and funding
27 authors at 13 institutions in 2 countries.
Baris AkinciDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Huseyin OnayDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Tevfik DemirDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Samim OzenDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Hulya KayseriliDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Gulcin AkinciDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Banu NurDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Beyhan TuysuzDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Mehmet Nuri OzbekDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Adem GungorDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Ilgin Yildirim SimsirDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Canan AltayDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Leyla DemirDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Enver SimsekDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Murat AtmacaDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Haluk TopalogluDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Habib BilenDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Hulusi AtmacaDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Tahir AtikDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Umit CavdarDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Umut AltunogluDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Ayca AslangerDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Ercan MihciDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Mustafa SecilDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Fusun SaygiliDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Abdurrahman ComlekciDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Abhimanyu GargDepartment of Internal Medicine (B.A., T.D., U.C., A.C.), Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics (H.O., S.O.), Ege University, Izmir, Turkey; Department of Pediatrics (S.O.), Division of Pediatric Endocrinology, Ege University, Izmir, Turkey; Department of Medical Genetics (H.K., U.A.), Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey; Department of Medical Genetics (H,K., A.A.), Koc University School of Medicine, Istanbul, Turkey; Division of Pediatric Neurology (G.A.), Dr. Behcet Uz Children's Hospital, Izmir, Turkey; Department of Pediatrics (B.N., E.M.), Division of Pediatric Genetics, Akdeniz University, Antalya, Turkey; Department of Pediatrics (B.T.), Division of Genetics, Istanbul Cerrahpasa University, Istanbul, Turkey; Division of Pediatric Endocrinology (M.N.O.), Diyarbakir Children's Hospital, Diyarbakir, Turkey; Department of Internal Medicine (A.G., H.B.S), Division of Endocrinology, Ataturk University, Erzurum, Turkey; Department of Internal Medicine (I.Y.S.), Division of Endocrinology, Ege University, Izmir, Turkey; Department of Radiology (C.A., M.S.), Dokuz Eylul University, Izmir, Turkey; Department of Biochemistry (L.D., F.S.), Ataturk Training Hospital, Izmir, Turkey; Department of Pediatrics (E.S.), Division of Pediatric Endocrinology, Osmangazi University, Eskisehir, Turkey; Department of Internal Medicine (M.A.), Division of Endocrinology, Yuzuncu Yil University, Van, Turkey; Department of Pediatrics (H.T.), Division of Pediatric Neurology, Hacettepe University, Ankara, Turkey; Department of Internal Medicine (H.A.), Division of Endocrinology, Ondokuz Mayis University, Samsun, Turkey; Department of Pediatrics (T.A.), Division of Pediatric Genetics, Ege University, Izmir, Turkey; and Department of Internal Medicine and the Center for Human Nutrition (A.G.), Division of Nutrition and Metabolic Diseases, UT Southwestern Medical Center, Dallas, Texas.
Dokuz Eylül University · TREge University · TRAkdeniz University · TRIstanbul University · TRAtatürk University · TRDr. Behçet Uz Çocuk Hastalıkları Hastanesi · TREskişehir Osmangazi University · TRHacettepe University · TRIstanbul University-Cerrahpaşa · TRKoç University · TROndokuz Mayıs University · TRThe University of Texas Southwestern Medical Center · USVan Yüzüncü Yıl Üniversitesi · TR
Funding
Genetic and Metabolic Basis of Familial LipodystrophiesR01DK105448 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI Abhimanyu Garg · 2015 to 2026
$6.5MNIDDK NIH HHS R01 DK105448
Abstract
contextCongenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat.
objectiveWe aimed to study natural history and disease burden of various subtypes of CGL.
designWe attempted to ascertain nearly all patients with CGL in Turkey.
settingThis was a nationwide study. PATIENTS OR OTHER
participantsParticipants included 33 patients (22 families) with CGL and 30 healthy controls. MAIN OUTCOME MEASURE(S): We wanted to ascertain genotypes by sequencing of the known genes. Whole-body magnetic resonance imaging was used to investigate the extent of fat loss. Metabolic abnormalities and end-organ complications were measured on prospective follow-up.
resultsAnalysis of the AGPAT2 gene revealed four previously reported and four novel mutations (CGL1; c.144C>A, c.667_705delinsCTGCG, c.268delC, and c.316+1G>T). Analysis of the BSCL2 gene revealed four different homozygous and one compound heterozygous possible disease-causing mutations (CGL2), including four novel mutations (c.280C>T, c.631delG, c.62A>T, and c.465-468delGACT). Two homozygous PTRF mutations (c.481-482insGTGA and c.259C>T) were identified (CGL4). Patients with CGL1 had preservation of adipose tissue in the palms, soles, scalp, and orbital region, and had relatively lower serum adiponectin levels as compared to CGL2 patients. CGL4 patients had myopathy and other distinct clinical features. All patients developed various metabolic abnormalities associated with insulin resistance. Hepatic involvement was more severe in CGL2. End-organ complications were observed at young ages. Two patients died at age 62 years from cardiovascular events.
conclusionsCGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.
Indexed as
AcyltransferasesAdolescentAdultCase-Control StudiesChildChild, PreschoolDisease ProgressionDNA Mutational AnalysisFemaleGTP-Binding Protein gamma SubunitsHumansInfantInsulin ResistanceLipodystrophy, Congenital GeneralizedMagnetic Resonance ImagingMale2-acylglycerophosphate acyltransferaseAcyltransferasesBSCL2 protein, humanGTP-Binding Protein gamma Subunits
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