46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
March 2023
in “
AACE clinical case reports
”
TLDR A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
A 36-year-old phenotypic female patient with a 46,XY karyotype was diagnosed with 5-alpha-reductase deficiency (5ARD) after presenting with type 2 diabetes, weight gain, and acne. Despite having a female phenotype, the patient had elevated testosterone levels and an absent uterus, cervix, and ovaries. Genetic testing confirmed a pathogenic variant of the SRD5A2 gene. This case is atypical due to the late presentation, likely influenced by the patient's lack of sexual activity and conservative upbringing. The case underscores the importance of considering rare sexual development disorders in patients with symptoms like obesity, hirsutism, infertility, and amenorrhea.
