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Article

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.

Clinical endocrinology - 1 Sept 2016

Fang Qing, Benedetti Anna Flavia Figueredo, Ma Qianyi, Gregory Louise, Li Jun Z, Dattani Mehul, Sadeghi-Nejad Abdollah, Arnhold Ivo J P, Mendonca Berenice Bilharinho, Camper Sally A, Carvalho Luciani R

Abstract excerpt

INTRODUCTION: Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD) with or without septo-optic dysplasia (SOD). So far there is no clear genotype-phenotype correlation. PATIENTS AND RESULTS: We report four different recessive loss-of-function mutations in three unrelated families with CPHD and no midline defects or SOD. A...

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Source

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Identifiers

PMID: 27000987
DOI: 10.1111/cen.13067
PMCID: PMC4988903

Genes

HESX1
PROP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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