ReviewArchives of endocrinology and metabolism2019
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Review in Archives of endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- Review
- Evaluation of thyrotrophic and lactotrophic reserves in patients with pituitary dwarfism with and without empty sella turcica.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- The molecular basis of hypoprolactinaemia.Reviews in endocrine & metabolic disorders · 2024Review
- Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.Hormones (Athens, Greece) · 2024Article
- Fertility induction associated with improved peripheral reproductive parameters in maleArchives of endocrinology and metabolism · 2024Article
- Pituitary Stalk Interruption Syndrome with Excessive Height Growth Combined with Congenital Absence of the Uterus and Ovaries: A Rare Case Report and Review of the Literature.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- Analysis ofJournal of clinical medicine · 2022Article
- The regulatory landscape of neurite development inFrontiers in molecular neuroscience · 2022Review
- A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.Molecular genetics & genomic medicine · 2021Article
- Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.The Journal of clinical endocrinology and metabolism · 2021Article
- Snow White and the Seven Dwarfs: a fairytale for endocrinologists.Endocrine connections · 2021Review
- Diagnosis and Management of Central Congenital Hypothyroidism.Frontiers in endocrinology · 2021Review
- Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic.Frontiers in genetics · 2021Article
- Mutations Within the Transcription FactorJournal of clinical research in pediatric endocrinology · 2020Article
- Article
- DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings inFrontiers in endocrinology · 2020Article
- Update on new GH-IGF axis genetic defects.Archives of endocrinology and metabolismReview
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PROP1 mutations followed at the Hospital das Clínicas of the University of Sao Paulo. In addition to deficiencies in GH, TSH, PRL and gonadotropins some patients develop late ACTH deficiency. Therefore, patients with PROP1 mutations require permanent surveillance. On magnetic resonance imaging, the pituitary stalk is normal, and the posterior lobe is in the normal position. The anterior lobe in patients with PROP1 mutations is usually hypoplastic but may be normal or even enlarged. Bi-allelic PROP1 mutations are currently the most frequently recognized genetic cause of CPHD worldwide. PROP1 defects occur more frequently among offspring of consanguineous parents and familial cases, but they also occur in sporadic cases, especially in countries in which the prevalence of PROP1 mutations is relatively high. We classified all reported PROP1 variants described to date according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines: 29 were pathogenic, 2 were likely pathogenic, and 2 were of unknown significance. An expansion of the phenotype of patients with PROP1 mutations was observed since the first description 20 years ago: variable anterior pituitary size, different pathogenic mutations, and late development of ACTH deficiency. PROP1 mutations are the most common cause of autosomal recessive CPHD with a topic posterior pituitary lobe. Arch Endocrinol Metab. 2019;63(2):167-74.
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