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Article

Familial growth hormone deficiency with mutated GHRH receptor gene: clinical and hormonal findings in homozygous and heterozygous individuals from Itabaianinha.

European journal of endocrinology - 1 Jun 2000

Hayashida C Y, Gondo R G, Ferrari C, Toledo S P, Salvatori R, Levine M A, Ezabella M C, Abelin N, Gianella-Neto D, Wajchenberg B L

Abstract excerpt

OBJECTIVE: To characterize clinically and hormonally the syndrome of autosomal recessive familial growth hormone deficiency (FGHD) recently identified in Itabaianinha, Sergipe, Brazil, caused by a novel mutation (mt) that inactivates the growth hormone-releasing hormone receptor (GHRH-R) gene. DESIGN: Clinical and hormonal evaluations were performed in 21 FGHD individuals (mt/mt group) aged 8 to 63 years, 13...

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Identifiers

PMID: 10822217
DOI: 10.1530/eje.0.1420557

Genes

GHRH
SDS

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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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