{Reference Type}: Review
{Title}: NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
{Author}: Wei X;Li S;He Y;
{Journal}: Medicine (Baltimore)
{Volume}: 102
{Issue}: 52
{Year}: 2023 Dec 29
{Factor}: 1.817
{DOI}: 10.1097/MD.0000000000036725
{Abstract}: <B>BACKGROUND: </B>Disorders/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.<BR><B>METHODS: </B>A 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.<BR><B>METHODS: </B>The 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.<BR><B>METHODS: </B>The patient underwent bilateral orchiectomy at age 12 years and was given a feminizing hormonal treatment of 0.5 mg/day of estradiol valerate tablets.<BR><B>RESULTS: </B>The patient recovered well after surgery and hormonal treatment and had a regression in hirsutism and clitoromegaly.<BR><B>CONCLUSIONS: </B>46,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.