Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019

Sara Metzger¹, Christine Aebi-Ochsner², Kanetee Busiah³, Mirjam Dirlewanger⁴, Sylvia Gschwend⁵, Melanie Hess⁶, Beatrice Kuhlmann^{7

8}, Dagmar l'Allemand⁹, Mariarosaria Lang-Muritano¹⁰, Kees Noordam¹¹, Franziska Phan-Hug^{12

13}, Ursina Probst¹⁴, Maristella Santi¹⁵, Silvia Schmid¹⁶, Valérie Schwitzgebel⁴, Michael Steigert¹⁷, Gabor Szinnai⁶, Gerald Theintz¹⁸, Grit Sommer^{1

19

20}, Christa E Flück^{1

19}

Affiliations

¹ Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
² Private Practice for Pediatric Endocrinology, 2501 Biel, Switzerland.
³ Department of Pediatric Endocrinology and Diabetology, CHUV, University Children's Hospital, 1011 Lausanne, Switzerland.
⁴ Pediatric Endocrine and Diabetes Unit, Children's University Hospital Geneva, 1205 Geneva, Switzerland.
⁵ Private Practice for Pediatric Endocrinology, 6300 Zug, Switzerland.
⁶ Pediatric Endocrinology and Diabetology, University Children's Hospital Basel, 4056 Basel, Switzerland.
⁷ Pediatric Endocrinology, Cantonal Hospital Aarau, 5001 Aarau, Switzerland.
⁸ Private Practice for Pediatric Endocrinology, 4051 Basel, Switzerland.
⁹ Department of Endocrinology, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland.
¹⁰ Pediatric Endocrinology and Diabetology, University Children's Hospital Zurich, 8008 Zurich, Switzerland.
¹¹ Centre for Pediatric Endocrinology Zurich (PEZZ), 8006 Zurich, Switzerland.
¹² Department of Pediatrics, Hospital Morges, 1110 Morges, Switzerland.
¹³ Department of Pediatrics, Hospital Wallis, 1951 Sion, Switzerland.
¹⁴ Department of Pediatrics, Cantonal Hospital Winterthur, 8401 Winterthur, Switzerland.
¹⁵ Department of Pediatrics, Cantonal Hospital Lucerne, 6000 Lucerne, Switzerland.
¹⁶ Private Practice for Pediatric Endocrinology, 8600 Dubendorf, Switzerland.
¹⁷ Department of Pediatrics, Cantonal Hospital Graubuenden, 7000 Chur, Switzerland.
¹⁸ Private Practice for Pediatric Endocrinology, 1004 Lausanne, Switzerland.
¹⁹ Department of Biomedical Research, University of Bern, 3008 Bern, Switzerland.
²⁰ Institute of Social and Preventive Medicine, University of Bern, 3012 Bern, Switzerland.

PMID: 40599336
PMCID: PMC12210017
DOI: 10.1210/jendso/bvaf099

Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019

Sara Metzger et al. J Endocr Soc. 2025.

. 2025 Jun 20;9(8):bvaf099.

doi: 10.1210/jendso/bvaf099. eCollection 2025 Aug.

Authors

Affiliations

¹ Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
² Private Practice for Pediatric Endocrinology, 2501 Biel, Switzerland.
³ Department of Pediatric Endocrinology and Diabetology, CHUV, University Children's Hospital, 1011 Lausanne, Switzerland.
⁴ Pediatric Endocrine and Diabetes Unit, Children's University Hospital Geneva, 1205 Geneva, Switzerland.
⁵ Private Practice for Pediatric Endocrinology, 6300 Zug, Switzerland.
⁶ Pediatric Endocrinology and Diabetology, University Children's Hospital Basel, 4056 Basel, Switzerland.
⁷ Pediatric Endocrinology, Cantonal Hospital Aarau, 5001 Aarau, Switzerland.
⁸ Private Practice for Pediatric Endocrinology, 4051 Basel, Switzerland.
⁹ Department of Endocrinology, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland.
¹⁰ Pediatric Endocrinology and Diabetology, University Children's Hospital Zurich, 8008 Zurich, Switzerland.
¹¹ Centre for Pediatric Endocrinology Zurich (PEZZ), 8006 Zurich, Switzerland.
¹² Department of Pediatrics, Hospital Morges, 1110 Morges, Switzerland.
¹³ Department of Pediatrics, Hospital Wallis, 1951 Sion, Switzerland.
¹⁴ Department of Pediatrics, Cantonal Hospital Winterthur, 8401 Winterthur, Switzerland.
¹⁵ Department of Pediatrics, Cantonal Hospital Lucerne, 6000 Lucerne, Switzerland.
¹⁶ Private Practice for Pediatric Endocrinology, 8600 Dubendorf, Switzerland.
¹⁷ Department of Pediatrics, Cantonal Hospital Graubuenden, 7000 Chur, Switzerland.
¹⁸ Private Practice for Pediatric Endocrinology, 1004 Lausanne, Switzerland.
¹⁹ Department of Biomedical Research, University of Bern, 3008 Bern, Switzerland.
²⁰ Institute of Social and Preventive Medicine, University of Bern, 3012 Bern, Switzerland.

PMID: 40599336
PMCID: PMC12210017
DOI: 10.1210/jendso/bvaf099

Abstract

Objective: Reliable data on prevalence of differences of sex development (DSD) are lacking. We aimed to estimate population-based prevalence of DSD among pediatric endocrine care centers in Switzerland.

Design: Retrospective population-based study including children and adolescents with DSD according to Chicago Consensus, born in Switzerland from 2000 through 2019.

Methods: Endocrine departments in 10 Swiss Children's Hospitals and 8 private endocrine practices collected DSD data through the I-DSD registry or case report forms. We calculated prevalence for DSD diagnostic groups and analyzed trends in prevalence.

Results: Over the 20-year study period, we identified 561 individuals with DSD. Almost half (n = 266, 47%) had sex chromosome DSD, 177 (32%) had 46,XY DSD, and 118 (21%) had 46,XX DSD. Causes for 46,XY DSD were disturbed androgen synthesis or action (37/177, 21%), atypical gonadal development (28/177, 16%), or other causes (112/177, 63%). Causes for 46,XX DSD were androgen excess (99/118, 84%), atypical gonadal development (8/118, 7%), or other causes (11/118, 9%). On average, 28 new cases were born with DSD annually. Prevalence was 17 for sex chromosome DSD, 12 for 46,XY DSD, and 8 for 46,XX DSD per 100 000 live births and year. One per 7500 newborn girls had 46,XX congenital adrenal hyperplasia.

Conclusion: 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.

Keywords: 46 XX DSD; 46 XY DSD; CAH; DSD; gonadal development; intersex; sex chromosome DSD.

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Figures

**Figure 1.**
Patient recruitment and exclusion flow chart, from eligible individuals identified through clinical centers, to individuals included in the analysis.

**Figure 2.**
Comparison of prevalence of identified DSDs in Switzerland between 2000 and 2004, 2005 and 2009, 2010 and 2014, and 2015 and 2019, by DSD diagnostic group (A-D), according to the Chicago Consensus Classification of DSD. Error bars indicate 95% CIs. Abbreviation: DSD, differences of sex development.

**Figure 3.**
Number of DSD diagnoses according to the Chicago Consensus Classification by type of treatment center, identified in Switzerland between 2000 and 2019. Abbreviation: DSD, differences of sex development.

See this image and copyright information in PMC

References

1. Cools M, Nordenstrom A, Robeva R, et al. Caring for individuals with a difference of sex development (DSD): a consensus statement. Nat Rev Endocrinol. 2018;14(7):415‐429. - PMC - PubMed
1. Hughes IA, Houk C, Ahmed SF, Lee PA. Lawson wilkins pediatric endocrine society/European society for paediatric endocrinology consensus G. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2(3):148‐162. - PubMed
1. Fluck CE, Guran T. Ambiguous genitalia in the newborn. In: Feingold KR, Anawalt B, Blackman MR, et al., eds. Endotext. 2000. Update 2023.
1. Lee PA, Nordenstrom A, Houk CP, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85(3):158‐180. - PubMed
1. Lucas-Herald AK, Ali SR, McMillan C, et al. I-DSD: the first 10 years. Horm Res Paediatr. 2023;96(2):238‐246. - PubMed

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Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019

Affiliations

Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019

Authors

Affiliations

Abstract

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References

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