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Article

Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.

Molecular and cellular endocrinology - 1 Aug 2024

Poch Alexandra, Dougherty Michael P, Roman Robert A, Chorich Lynn, Hawkins Zoe, Kim Soo-Hyun, Kim Hyung-Goo, Layman Lawrence C

Abstract excerpt

BACKGROUND: Hypogonadotropic hypogonadism (HH) is due to impaired gonadotropin releasing hormone (GnRH) action resulting in absent puberty and infertility. At least 44 genes have been identified to possess genetic variants in 40-50% of nHH/KS, and 2-20% have presumed digenic disease, but not all variants have been characterized in vitro. HYPOTHESIS: The prevalence of pathogenic (P)/likely pathogenic (LP) variants...

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Identifiers

PMID: 38593951
DOI: 10.1016/j.mce.2024.112224

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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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