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Article

Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 May 2026

Grater Lindsey, Hawkins Zoe, Ben-Mahmoud Afif, Kim Hyung-Goo, Layman Lawrence C

Abstract excerpt

OBJECTIVES: Idiopathic hypogonadotropic hypogonadism and Kallmann syndrome are rare disorders of deficient gonadotropin-releasing hormone migration, secretion, and/or action causing delayed or absent puberty and infertility. Variants in >50 genes have been reported as causative, but many lack functional validation, potentially overestimating pathogenicity. We hypothesized that the number of true causative...

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PMID: 41621652
DOI: 10.1016/j.eprac.2026.01.015

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