Article
Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.
The Journal of clinical endocrinology and metabolism - 18 Dec 2024
Lippincott Margaret F, Schafer Evan C, Hindman Anna A, He Wen, Brauner Raja, Delaney Angela, Grinspon Romina, Hall Janet E, Hirschhorn Joel N, McElreavey Kenneth, Palmert Mark R, Rey Rodolfo, Seminara Stephanie B, Salem Rany M, Chan Yee-Ming
Abstract excerpt
CONTEXT: Constitutional delay of puberty (CDP) is highly heritable, but the genetic basis for CDP is largely unknown. Idiopathic hypogonadotropic hypogonadism (IHH) can be caused by rare genetic variants, but in about half of cases, no rare-variant cause is found. OBJECTIVE: To determine whether common genetic variants that influence pubertal timing contribute to CDP and IHH. DESIGN: Case-control study....
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