A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency
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Case Report
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A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency

1. Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China
2. Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China
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Received Date: 27.08.2024
Accepted Date: 12.12.2024
Online Date: 06.03.2025
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Abstract

Differences or disorders of sex development (DSD) represent a range of congenital conditions that lead to discrepancies among a person's sex chromosomes, gonads, and anatomical sex. Variants in the SRD5A2 gene can lead to 5-alpha-reductase type 2 (5α-RD2) deficiency, a condition within the DSD spectrum. Here, we report a case of 5α-RD2 deficiency in a Chinese child, resulting from a newly identified compound heterozygous variant in SRD5A2. The proband, a 2-month-old child assigned female at birth, was initially observed to have bilateral hypertrophy of the labial folds during routine child healthcare visits at a local hospital. An ultrasound scan revealed testicular structures on both sides of the labial folds. The testosterone (T)/dihydrotestosterone (DHT) ratio after stimulation was 37, consistent with 5α-RD2 deficiency. Whole-exome sequencing and copy number variation analysis identified a novel compound heterozygous variant in SRD5A2, consisting of a 175.06 Kb deletion (including exon 1) located at chr2:31802204-31977267 and a c.607G>A (p.G203S) point mutation. Cytogenetic analysis confirmed a 46,XY karyotype. This case highlights a previously unreported compound heterozygous variant in SRD5A2 associated with 5α-RD2 deficiency in a Chinese child.

Keywords:
5α-reductase type 2 deficiency, SRD5A2, disorders of sex development (DSD), gene deletion