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Article

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

European journal of endocrinology - 1 Sept 2005

Lebl Jan, Vosáhlo Jan, Pfaeffle Roland W, Stobbe Heike, Cerná Jana, Novotná Dana, Zapletalová Jirina, Kalvachová Bozena, Hána Václav, Weiss Vladimír, Blum Werner F

Abstract excerpt

OBJECTIVE: Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to establish the prevalence of HESX1, PROP1, and POU1F1 gene defects in a population-based cohort of patients with MPHD and to analyse the phenotype of affected individuals. DESIGN AND METHODS: Genomic analysis was carried out on 74 children and adults with...

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Source

Identifiers

PMID: 16131601
DOI: 10.1530/eje.1.01989

Genes

PROP1
SDS
HESX1

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.

Related research

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Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.PMID 16131601Read ↗

PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.Semantic proximity Read ↗

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.Semantic proximity Read ↗

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.Semantic proximity Read ↗

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.Semantic proximity Read ↗

Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.Semantic proximity Read ↗

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.Semantic proximity Read ↗

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

Heritable disorders of pituitary development.Semantic proximity Read ↗

Clinical characteristics of a pediatric cohort of patients with combined pituitary insufficiency caused by mutations of the PROP1 geneSemantic proximity Read ↗

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.Semantic proximity Read ↗

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.Semantic proximity Read ↗

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Semantic proximity Read ↗

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