ArticleEndocrine connections2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Article in Endocrine connections, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Exonisation of an Alu element in the 3'-UTR contributes to SRD5A2 deficiency.Scientific reports · 2026Article
- Biology and Management of Male-Bodied Athletes in Elite Female Sports.Drug testing and analysis · 2025Review
- Article
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.Asian journal of andrology · 2025Article
- Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency.Frontiers in pediatrics · 2025Review
- Primary Amenorrhea and Premature Ovarian Insufficiency.Endocrinology and metabolism clinics of North America · 2024Review
- Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development.Endocrine connections · 2023Article
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Authors and funding
32 authors.
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Abstract
Objectives: To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available. Methods: Clinical, laboratory, and therapeutic data were retrieved from the medical records of 52 patients with a molecular diagnosis of SRD5A2 (n = 31) or HSD17B3 (n = 21) deficiency. Temporal trends regarding age at assessment and initial sex assignment over 1994-2020 were qualitatively analyzed. Age at molecular diagnosis was compared between two subgroups of patients according to their year of birth. Results: Fifty-eight percent (n = 30) patients were diagnosed during the perinatal period, 33% (n = 17) during infancy, and 9% (n = 5) during adolescence or adulthood. Over the studied period, the patients' age at initial assessment and diagnosis frankly decreased. The median (range) age at diagnostic confirmation was 10.5 (0-53.2) years for patients born before 2007 and 0.4 (0-9.3) years for those born in 2007 or later (P = 0.029). Genetic testing identified 27 different variants for the SRD5A2 gene (30% novel, n = 8) and 18 for the HSD17B3 gene (44% novel, n = 8). Before 2002, most patients were initially assigned as females (95%, n = 19), but this proportion dropped for those born later (44%, n = 14; P < 0.001). The influence of initial genital appearance on these decisions seemingly decreased in the most recent years. Therapeutic interventions differed according to the sex of rearing. Ten percent (n = 2) patients requested female-to-male reassignment during adulthood. Conclusion: This study showed, over the past two decades, a clear trend toward earlier diagnosis and assignment of affected newborns as males.
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