Pituitary Hypoplasia

Mariam Gangat; Sally Radovick

doi:10.1016/j.ecl.2017.01.003

Pituitary Hypoplasia

Endocrinol Metab Clin North Am. 2017 Jun;46(2):247-257. doi: 10.1016/j.ecl.2017.01.003. Epub 2017 Feb 22.

Authors

Mariam Gangat¹, Sally Radovick²

Affiliations

¹ Department of Pediatrics, Child Health Institute of New Jersey, Rutgers-Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, 89 French Street, Room 1360, New Brunswick, NJ 08901, USA. Electronic address: gangatma@rwjms.rutgers.edu.
² Department of Pediatrics, Child Health Institute of New Jersey, Rutgers-Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, 89 French Street, Room 4212, New Brunswick, NJ 08901, USA.

PMID: 28476222
DOI: 10.1016/j.ecl.2017.01.003

Abstract

This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POU1F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well described in the literature in terms of clinical characterization of affected patients and molecular mechanisms of action, and therefore, are very relevant to clinical practice.

Keywords: Combined pituitary hormone deficiency; Hypopituitarism; Pituitary development; Transcription factor.

Publication types

Review

MeSH terms

Humans
Hypopituitarism / genetics*
Mutation
Pituitary Gland / physiopathology*
Transcription Factors / genetics*

Substances

Transcription Factors