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Article

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

Clinical endocrinology - 1 Dec 2015

De Rienzo Francesca, Mellone Simona, Bellone Simonetta, Babu Deepak, Fusco Ileana, Prodam Flavia, Petri Antonella, Muniswamy Ranjith, De Luca Filippo, Salerno Mariacarolina, Momigliano-Richardi Patricia, Bona Gianni, Giordano Mara

Abstract excerpt

OBJECTIVE: Combined pituitary hormonal deficiency (CPHD) can result from mutations within genes that encode transcription factors. This study evaluated the frequency of mutations in these genes in a cohort of 144 unrelated Italian patients with CPHD and estimated the overall prevalence of mutations across different populations using a systematic literature review. MATERIAL AND METHODS: A multicentre study of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26147833
DOI: 10.1111/cen.12849

Genes

PROP1
HESX1
LHX3
LHX4

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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