ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2017
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 32 citations in OpenAlex.
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.Asian journal of andrology · 2025Article
- Evolution, classification, structure, and functional diversification of steroid 5α-reductase family in eukaryotes.Heliyon · 2024Review
- Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation.Case reports in genetics · 2024Article
- Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.Endocrine connections · 2023Article
- Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.Italian journal of pediatrics · 2022Article
- Histological analysis of testes in patients with 5 alpha-reductase deficiency type 2: Comparison with cryptorchid testes in patients without endocrinological abnormalities and a review of the literature.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.International journal of molecular sciences · 2021Review
- A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study.Endocrine · 2020Article
- 5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.Journal of endocrinological investigation · 2020Review
- Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis.Balkan journal of medical genetics : BJMG · 2019Article
- Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study.Frontiers in pharmacology · 2019Article
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13 authors at 4 institutions in 1 country.
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Abstract
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rearing at birth are equivocal or favor male assignment in the most virilized cases. While a male sex of rearing assignment may avoid lifelong hormonal therapy and/or allow the potential for fertility, female sex assignment may be more consistent with external anatomy in the most severely undervirilized cases. Herein, we describe five patients with 46,XY DSD due 5-alpha-reductase type 2 deficiency, all with a severe phenotype. An inter-disciplinary DSD medical team at one of two academic centers evaluated each patient. This case series illustrates the complicated decision-making process of assignment of sex of rearing at birth in 5-alpha reductase type 2 deficiency and the challenges that arise when the interests of the child, parental wishes, recommendations of the medical team, and state law collide.
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