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Article

Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

Keselman Ana, Scaglia Paula A, Rodríguez Prieto María Soledad, Ballerini María Gabriela, Rodríguez María Eugenia, Ropelato María Gabriela, Bergadá Ignacio, Jasper Héctor G, Domené Horacio M

Abstract excerpt

Isolated growth hormone deficiency (IGHD) may result from deletions/mutations in either GH1 or GHRHR genes. The objective of this study was to characterize the molecular defect in a girl presenting IGHD. The patient was born at 41 weeks of gestation from non-consanguineous parents. Clinical and biochemical evaluation included anthropometric measurements, evaluation of pituitary function, IGF-I and IGFBP-3 levels....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23295298
DOI: 10.1590/s0004-27302012000800016

Genes

GHRHR
SDS

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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