Abstract Search

ey0021.8-7 | Important for Clinical Practice | ESPEYB21

8.7. Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention

J Alderson , M Thornton , M Skae , J Jones , N Nicoll , D Harcourt , M Woodward , EC Crowne

Brief Summary: This qualitative study investigated parental communication with their daughters regarding variation in clitoral size related to severity of classical congenital adrenal hyprplasia (CAH). The authors conducted semi-structured in-person interviews with 24 parents of children with a specific genital difference, without direct exploration of parental values regarding the clitoris or the application of adequate psychosocial care.Comment: CAH du...

0 shares

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...

1 shares

ESPE Yearbook of Paediatric Endocrinology

8.7. Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention

15.3. Obesity-associated GNAS mutations and the melanocortin pathway

BiosciAbstracts