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Article

Genetic screening of a Dutch population with isolated GH deficiency (IGHD).

Clinical endocrinology - 1 May 2009

de Graaff Laura C G, Argente Jesús, Veenma Danielle C M, Herrebout Maaike A C, Friesema Edith C H, Uitterlinden André G, Drent Madeleine L, Campos-Barros Angel, Hokken-Koelega Anita C S

Abstract excerpt

OBJECTIVE: Five per cent to 30% of cases of idiopathic isolated GH deficiency (IGHD) have first-degree relatives with short stature, which is suggestive of a genetic aetiology. The HYPOPIT study aimed to obtain an overall picture of gene encoding pituitary GH (GH1) and gene encoding GH releasing hormone-receptor (GHRHR) defects in a Dutch IGHD cohort and to relate them with clinical parameters. DESIGN, PATIENTS...

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Identifiers

PMID: 18785993
DOI: 10.1111/j.1365-2265.2008.03414.x

Genes

GHRHR
SDS

Variants

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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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