Prevalence of differences of sex development among pediatric endocrine care centers in Switzerland from 2000-2019

Prevalence of sex chromosome DSD was underreported due to late diagnosis. Prevalence of 46,XX congenital adrenal hyperplasia is similar to newborn screening data, suggesting good completeness of cases. For complex DSD cases, we expect complete coverage. This study provides a valuable resource for policymaking and (inter)national research on DSD.

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Publication Details

Journal
Journal of the Endocrine Society
Published
2025-06-20
DOI
https://doi.org/10.1210/jendso/bvaf099
Primary Topic
Sexual Differentiation and Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

Prevalence of differences of sex development among pediatric endocrine care centers in Switzerland from 2000-2019

Valérie Schwitzgebel, Michael Steigert, Maristella Santi, Grit Sommer et al.
Journal of the Endocrine Society
Sexual Differentiation and Disorders
article

Prevalence of differences of sex development among pediatric endocrine care centers in Switzerland from 2000-2019

Valérie Schwitzgebel, Michael Steigert, Maristella Santi, Grit Sommer, Dagmar l’Allemand, Gabor Szinnai, C. Noordam, Mirjam Dirlewanger, Mariarosaria Lang‐Muritano, Christine Aebi-Ochsner, Melanie Hess, Sylvia Gschwend, Kanetee Busiah, Beatrice G. Kuhlmann, Silvia Schmid, Christa E Flueck, Franziska Phan-Hug, Ursina Probst, Sara Metzger, G Theintz
article en

Abstract

Prevalence of sex chromosome DSD was underreported due to late diagnosis. Prevalence of 46,XX congenital adrenal hyperplasia is similar to newborn screening data, suggesting good completeness of cases. For complex DSD cases, we expect complete coverage. This study provides a valuable resource for policymaking and (inter)national research on DSD.

Journal of the Endocrine SocietyVol. 9(8)
University of Bern (CH), University of Lucerne (CH), University Hospital of Bern (CH), Temple Street Children's University Hospital (IE), Uniwersytecki Szpital Dziecięcy (PL), Kantonsspital Winterthur (CH), Children's Clinical University Hospital (LV), BDH-Klinik Hessisch Oldendorf (DE), Hôpital de Morges (CH), Center for Pediatric Endocrinology Zurich (CH), University Children’s Hospital Basel (CH), University Children's Hospital Zurich (CH), Institute of Social and Preventive Medicine (CH), Spital Thurgau (Switzerland) (CH), Children's Hospital 1 (VN), Kantonsspital Aarau (CH)
Schweizerischen Gesellschaft für Endokrinologie und Diabetologie
Openalex Percentile: Top 86%
Sexual Differentiation and Disorders
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