The Molecular Basis of Congenital Hypopituitarism and Related Disorders

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The Molecular Basis of Congenital Hypopituitarism and Related Disorders

Gregory, LC; Dattani, MT; (2020) The Molecular Basis of Congenital Hypopituitarism and Related Disorders. Journal of Clinical Endocrinology & Metabolism , 105 (6) e2103-e2120. 10.1210/clinem/dgz184. Green open access

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Abstract

CONTEXT: Congenital hypopituitarism (CH) is characterized by the presence of deficiencies in one or more of the six anterior pituitary (AP) hormones secreted from the five different specialized cell types of the AP. During human embryogenesis, hypothalamo-pituitary (HP) development is controlled by a complex spatio-temporal genetic cascade of transcription factors and signaling molecules within the hypothalamus and Rathke’s pouch, the primordium of the AP. / EVIDENCE ACQUISITION: This mini-review discusses the genes and pathways involved in HP development and how mutations of these give rise to CH. This may present in the neonatal period or later on in childhood, and may be associated with craniofacial midline structural abnormalities such as cleft lip/palate, visual impairment due to eye abnormalities such as optic nerve hypoplasia and microphthalmia or anophthalmia, or midline forebrain neuroradiological defects including agenesis of the septum pellucidum or corpus callosum or the more severe holoprosencephaly. / EVIDENCE SYNTHESIS: Mutations give rise to an array of highly variable disorders ranging in severity. There are many known causative genes in HP developmental pathways that are routinely screened in CH patients; however, over the last 5 years this list has rapidly increased due to the identification of variants in new genes and pathways of interest by next generation sequencing. / CONCLUSION: The majority of patients with these disorders do not have an identified molecular basis, often making management challenging. This mini-review aims to guide clinicians in making a genetic diagnosis based on patient phenotype, which in turn may impact on clinical management.

Type:	Article
Title:	The Molecular Basis of Congenital Hypopituitarism and Related Disorders
Location:	United States
Open access status:	An open access version is available from UCL Discovery
DOI:	10.1210/clinem/dgz184
Publisher version:	https://doi.org/10.1210/clinem/dgz184
Language:	English
Additional information:	This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords:	Pituitary development, Hypothalamus development, Endocrine, Congenital Hypopituitarism
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI:	https://discovery.ucl.ac.uk/id/eprint/10086301