Margaret F Lippincott, Evan C Schafer, Anna A Hindman, Wen He, Raja Brauner, Angela Delaney, Romina Grinspon, Janet E Hall, Joel N Hirschhorn, Kenneth McElreavey, Mark R Palmert, Rodolfo Rey, Stephanie B Seminara, Rany M Salem, Yee-Ming Chan
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. PARTICIPANTS: 80 individuals with CDP; 301 with normosmic IHH, and 348 with Kallmann syndrome; control genotyping data from unrelated studies...
March 13, 2024: Journal of Clinical Endocrinology and Metabolism