Article
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2023
Robevska Gorjana, Hanna Chloe, van den Bergen Jocelyn, Welch John, Couper Jennifer, Harris Shannon, Joshi Kriti, Brown Justin, Sabin Matthew, Sinclair Andrew, O'Connell Michele, Ayers Katie
Abstract excerpt
INTRODUCTION: Steroid 5-alpha reductase deficiency (5α-R2D) is a rare condition caused by genetic variants that reduce the activity of the enzyme that converts testosterone into dihydrotestosterone. The clinical spectrum of 5α-R2D is known to overlap with other 46,XY differences of sex development (DSD) such as androgen insensitivity or gonadal dysgenesis. However, the clinical trajectories of the aetiologies can...
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