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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...

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ey0019.5-1 | Novel treatments for rare skeletal disorders | ESPEYB19

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

IW Song , SC Nagamani , D Nguyen , I Grafe , VR Sutton , FH Gannon , E Munivez , MM Jiang , A Tran , M Wallace , P Esposito , S Musaad , E Strudthoff , S McGuire , M Thornton , V Shenava , S Rosenfeld , S Huang , R Shypailo , E Orwoll , B Lee

J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35113812/In brief: Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI) where most children, of all forms of OI, with significant fracture history, are managed by bisphosphonates...

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ESPE Yearbook of Paediatric Endocrinology

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

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

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