ArticleArchives of medical science : AMS2020
Genetic causes of hypopituitarism.
Article in Archives of medical science : AMS, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- Identification ofInternational journal of molecular sciences · 2025Article
- Biomarkers of GH deficiency identified in untreated and GH-treated Pit-1 mutant mice.Frontiers in endocrinology · 2025Article
- Hypopituitarism in Sox3 null mutants correlates with altered NG2-glia in the median eminence and is influenced by aspirin and gut microbiota.PLoS genetics · 2024Article
- Optimizing paediatric specialist referrals for short stature in an era of multiple growth hormone indications.Paediatrics & child health · 2024Article
- Understanding the genetic complexity of puberty timing across the allele frequency spectrum.Nature genetics · 2024Article
- Management of Neonatal Isolated and Combined Growth Hormone Deficiency: Current Status.International journal of molecular sciences · 2023Review
- Organoid models of the pituitary gland in health and disease.Frontiers in endocrinology · 2023Review
- The Genetic Backdrop of Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2021Review
- LONG TERM FOLLOW-UP OF ONE OF THE FIRST PATIENTS TO RECEIVE HUMAN GROWTH HORMONE THERAPY.AACE clinical case reportsArticle
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypopituitarism in neonates is rare, but has life-threatening complications if untreated. This review describes the features of hypopituitarism and the evidence for which infants in whom a genetic cause should be suspected. Importantly, neonates are often asymptomatic or present with non-specific symptoms. Hypopituitarism can be due to abnormal gland development as a result of genetic defects, which result from mutations in gene coding for transcription factors which regulate pituitary development. The mutations can be divided into those causing isolated hypopituitarism or those causing syndromes with associated hypopituitarism. The latter involve mutations in transcription factors which regulate pituitary, as well as extra-pituitary development. There is a paucity of evidence as to which patients should be investigated for genetic mutations, but detailed clinical and biochemical phenotyping with magnetic resonance imaging of the pituitary gland could help target those in whom genetic investigations would be most appropriate.
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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.