• Medicine · Dec 2023

    Review Case Reports

    NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.

    • Xianzhen Wei, Shan Li, and Yu He.
    • Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University; Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning city, Guangxi, China.
    • Medicine (Baltimore). 2023 Dec 29; 102 (52): e36725e36725.

    RationaleDisorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD.Patient ConcernsA 12-year-old individual raised as a girl was admitted to the hospital due to hirsutism and a deep voice that began at 11 years old. The individual exhibited testicular hypoplasia, clitoral hypertrophy, and female external genitalia.DiagnosesThe patient was diagnosed 46,XY partial gonadal dysgenesis. The cytogenetics revealed a 46,XY karyotype and DNA sequencing shown a variant in NR5A1. Pelvic magnetic resonance imaging showed absence of uterus and ovaries. The abdominopelvic ultrasound revealed bilateral testicle in bilateral groin. Pathology confirmed testes dysgenesis.InterventionsThe patient underwent bilateral orchiectomy at age 12 years and was given a feminizing hormonal treatment of 0.5 mg/day of estradiol valerate tablets.OutcomesThe patient recovered well after surgery and hormonal treatment and had a regression in hirsutism and clitoromegaly.Lessons46,XY DSD is a rare disease that the development of chromosomal, gonadal, or anatomical sex is discordant, when diagnosed 46,XY DSD, the identification of an NR5A1 variant should be considered.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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