ArticleEndocrine2016
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
Article in Endocrine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.Nature reviews. Endocrinology · 2024Guideline
- Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.NPJ genomic medicine · 2026Article
- An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia--SEA deletion.Annals of hematology · 2025Article
- Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.Genome medicine · 2024Article
- Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.Current issues in molecular biology · 2024Review
- Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.Frontiers in endocrinology · 2024Article
- An update on, and genetics of refractory adenomas of childhood.Pituitary · 2023Review
- Clinical Biology of the Pituitary Adenoma.Endocrine reviews · 2022Review
- Genetic and Epigenetic Pathogenesis of Acromegaly.Cancers · 2022Review
- Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021Review
- Novel Insights into Pituitary Tumorigenesis: Genetic and Epigenetic Mechanisms.Endocrine reviews · 2020Review
- Aggressive pituitary tumors in the young and elderly.Reviews in endocrine & metabolic disorders · 2020Review
- The Genetics of Pituitary Adenomas.Journal of clinical medicine · 2019Review
- Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.The Journal of clinical endocrinology and metabolism · 2019Article
- Oral disorders related to acromegaly.The Pan African medical journal · 2019Article
- The causes and consequences of pituitary gigantism.Nature reviews. Endocrinology · 2018Review
- The genetic background of acromegaly.Pituitary · 2017Review
- Acromegaly: clinical features at diagnosis.Pituitary · 2017Review
- Article
- Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.Pituitary · 2016Article
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 5 countries.
Funding
Abstract
X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.