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Article

Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency.

European journal of endocrinology - 1 Dec 2006

Turton James P G, Buchanan Charles R, Robinson Iain C A F, Aylwin Simon J B, Dattani Mehul T

Abstract excerpt

BACKGROUND: Type II isolated GH deficiency (IGHD type II) is caused by dominant negative splicing or point mutations of the GH-1 gene. Studies have suggested that dominant mutant GH forms prevent the secretion of wild-type GH, resulting in eventual cell death; surprisingly, some patients with these GH mutations develop other hormonal deficiencies (ACTH, TSH). SUBJECTS: The proband presented at the age of 2.3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17132747
DOI: 10.1530/eje.1.02293

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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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