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Article

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Fertility and sterility - 1 Dec 2011

Quaynor Samuel D, Kim Hyung-Goo, Cappello Elizabeth M, Williams Tiera, Chorich Lynn P, Bick David P, Sherins Richard J, Layman Lawrence C

Abstract excerpt

OBJECTIVE: To determine the prevalence of digenic mutations in patients with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). DESIGN: Molecular analysis of DNA in IHH/KS patients. SETTING: Academic medical center. PATIENT(S): Twenty-four IHH/KS patients with a known mutation (group 1) and 24 IHH/KS patients with no known mutation (group 2). INTERVENTION(S): DNA from IHH/KS patients was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22035731
DOI: 10.1016/j.fertnstert.2011.09.046
PMCID: PMC3573697

Genes

IHH
CHD7
FGF8
FGFR1
GNRH1
GNRHR
PROK2
PROKR2
TAC3
TACR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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