ISSN 1662-4009 (online)

ey0021.7-7 | Clinical Guidance and Studies | ESPEYB21

7.7. Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism

MF Lippincott , EC Schafer , AA Hindman , W He , R Brauner , A Delaney , R Grinspon , JE Hall , JN Hirschhorn , K McElreavey , MR Palmert , R Rey , SB Seminara , RM Salem , YM Chan , Consortium Delayed Puberty Genetics

Brief Summary: this case-control study shows that the common genetic variants that influence pubertal timing in the general population also contribute to constitutional delay of puberty (CDP) and less significantly to normosmic idiopathic hypogonadotropic hypogonadism (IHH).CDP and IHH are two different conditions that are notoriously difficult to distinguish clinically on initial presentation. Because CDP has clear heritability traits1, and h...

ey0021.7-8 | Clinical Guidance and Studies | ESPEYB21

7.8. Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty

K Duckett , A Williamson , JWR Kincaid , K Rainbow , LJ Corbin , HC Martin , RY Eberhardt , QQ Huang , ME Hurles , W He , R Brauner , A Delaney , L Dunkel , RP Grinspon , JE Hall , JN Hirschhorn , SR Howard , AC Latronico , AAL Jorge , K McElreavey , V Mericq , PM Merino , MR Palmert , L Plummer , RA Rey , RC Rezende , SB Seminara , K Salnikov , I Banerjee , BYH Lam , JRB Perry , NJ Timpson , P Clayton , YM Chan , KK Ong , S O'Rahilly

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...