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To read the full abstract: Int J Mol Sci. 2019, Dec 3; 20. doi: https://www.ncbi.nlm.nih.gov/pubmed/31816857This excellent review approaches the diagnostic investigations in DSD from the perspective of an individual with 46,XX DSD. It provides valuable information for clinicians investigating an individual with 46,XX testicular DSD.The knowledge of gene dosage effe...

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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<...

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ESPE Yearbook of Paediatric Endocrinology

6.1. Molecular characterization of XX maleness

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

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