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Article

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

Endocrine journal - 25 Apr 2016

Takagi Masaki, Takahashi Mai, Ohtsu Yoshiaki, Sato Takeshi, Narumi Satoshi, Arakawa Hirokazu, Hasegawa Tomonobu

Abstract excerpt

Heterozygous and/or homozygous HESX1 mutations have been reported to cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), in association with septo optic dysplasia (SOD). We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes. The propositus was a one-year-old Japanese girl. Shortly after birth, she was found to be hypoglycemic. She was...

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Topics

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Share to Amino Acid Substitution
Share to HESX1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26781211
DOI: 10.1507/endocrj.EJ15-0409

Genes

HESX1
PROP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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