eISSN: 1896-9151
ISSN: 1734-1922
Archives of Medical Science
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SCImago Journal & Country Rank
1/2020
vol. 16
 
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abstract:
State of the art paper

Genetic causes of hypopituitarism

Katherine Parkin
1
,
Ritika Kapoor
2
,
Ravindra Bhat
3, 4
,
Anne Greenough
4, 5, 6

1.
King’s College London, Guy’s King’s and St Thomas School of Medicine, London, United Kingdom
2.
Department of Paediatric Endocrinology, King’s College Hospital NHS Foundation Trust, London, United Kingdom
3.
Neonatal Intensive Care Centre, King’s College Hospital NHS Foundation Trust, London, United Kingdom
4.
Department of Women and Children’s Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King’s College London, United Kingdom
5.
Asthma UK Centre in Allergic Mechanisms of Asthma, King’s College London, United Kingdom
6.
NIHR Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London, United Kingdom
Arch Med Sci 2020; 16 (1): 27–33
Online publish date: 2019/12/31
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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.
keywords:

congenital hypopituitarism; genetic defects, magnetic resonance imaging

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