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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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ey0017.6-12 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

ML Ljubicic , A Jorgensen , C Acerini , J Andrade , A Balsamo , S Bertelloni , M Cools , RT Cuccaro , F Darendeliler , CE Fluck , RP Grinspon , A Maciel-Guerra , T Guran , SE Hannema , AK Lucas-Herald , O Hiort , PM Holterhus , C Lichiardopol , LHJ Looijenga , R Ortolano , S Riedl , SF Ahmed , A Juul

To read the full abstract: J Clin Endocrinol Metab. 2019, Oct 1; 104: 436681. doi: https://www.ncbi.nlm.nih.gov/pubmed/31127831This retrospective observational study compared long-term health outcomes between 46,X/46,XY individuals diagnosed early in life due to genital anomalies (n =35) and those diagnosed later due other reasons (n =28). Data came from 16 clinic...

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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

6.12. Clinical but not histological outcomes in males with 45,X/46,XY mosaicism vary depending on reason for diagnosis

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

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