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Genetic causes of hypopituitarism

Research output: Contribution to journalArticle

Katherine Parkin, Ritika Kapoor, Ravindra Bhat, Anne Greenough

Original languageEnglish
Pages (from-to)27-33
Number of pages7
JournalArchives of Medical Science
Volume16
Issue number1
Early online date31 Dec 2020
DOIs
Accepted/In press2 Dec 2019
E-pub ahead of print31 Dec 2020

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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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