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Article

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.

European journal of endocrinology - 1 Nov 2006

Cerrato Felecia, Shagoury Jenna, Kralickova Milena, Dwyer Andrew, Falardeau John, Ozata Metin, Van Vliet Guy, Bouloux Pierre, Hall Janet E, Hayes Frances J, Pitteloud Nelly, Martin Kathryn A, Welt Corrine, Seminara Stephanie B

Abstract excerpt

OBJECTIVE: To determine the frequency of rare nucleotide variants in GNRHR and GPR54 in a large cohort of probands (n = 166) with normosmic idiopathic hypogonadotropic hypogonadism (nIHH), characterized by mode of inheritance, testicular volume, and presence or absence of endogenous LH pulsations. METHODS: Whenever possible, probands answered detailed questionnaires, underwent full physical exams, and underwent q...

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Source

Identifiers

PMID: 17074994
DOI: 10.1530/eje.1.02235

Genes

GNRHR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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