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ey0019.6-4 | Co-morbidities associated with DSD | ESPEYB19

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

LJW Tack , der Straaten S van , S Riedl , A Springer , PM Holterhus , NC Hornig , Z Kolesinska , M Niedziela , F Baronio , A Balsamo , SE Hannema , A Nordenstrom , S Poyrazoglu , FF Darendeliler , R Grinspon , R Rey , F Aljuraibah , J Bryce , F Ahmed , R Tadokoro-Cuccaro , I Hughes , G Guaragna-Filho , AT Maciel-Guerra , G Guerra-Junior , M Cools

Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growt...

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ey0019.15-3 | Obesity | ESPEYB19

15.3. Obesity-associated GNAS mutations and the melanocortin pathway

E Mendes de Oliveira , JM Keogh , F Talbot , E Henning , R Ahmed , A Perdikari , R Bounds , N Wasiluk , V Ayinampudi , I Barroso , J Mokrosinski , D Jyothish , S Lim , S Gupta , M Kershaw , C Matei , P Partha , T Randell , A McAulay , LC Wilson , T Cheetham , EC Crowne , P Clayton , IS Farooqi

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...

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ey0015.14-10 | CRISPR-Cas9 gene therapy | ESPEYB15

14.10 Correction of a pathogenic gene mutation in human embryos

H Ma , N Marti-Gutierrez , SW Park , J Wu , Y Lee , K Suzuki , A Koski , D Ji , T Hayama , R Ahmed , H Darby , C Van Dyken , Y Li , E Kang , AR Park , D Kim , ST Kim , J Gong , Y Gu , X Xu , D Battaglia , SA Krieg , DM Lee , DH Wu , DP Wolf , SB Heitner , JCI Belmonte , P Amato , JS Kim , S Kaul , S Mitalipov

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

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ESPE Yearbook of Paediatric Endocrinology

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

15.3. Obesity-associated GNAS mutations and the melanocortin pathway

14.10 Correction of a pathogenic gene mutation in human embryos

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