Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.

Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Endocr J. 2018 Sep 15;:
Authors: Adachi M, Hasegawa T, Tanaka Y, Asakura Y, Hanakawa J, Muroya K
Abstract
A heterozygous NR5A1 mutation is one of the most frequent causes of 46,XY DSD (disorders of sex development). We here reported a NR5A1-related 46,XY DSD patient, who first received endocrinological attention at 10 years of age for clitoromegaly. The patient had been reared as a girl, and no signs of virilization had been detected before. On examination, her clitoris was 35 mm long and 10 mm wide, with Tanner 3° pubic hair. Urogenital sinus and labial fusion was absent, while her uterus was found to be severely hypoplastic. Her basal testosterone level was 94.8 ng/dL, suggesting the presence of functioning Leydig cells. Gonadal histology revealed bilateral dysplastic testes consisting of mostly Sertoli cell-only tubules and Leydig cell hyperplasia. Novel heterozygous Arg313Leu substitution in NR5A1 was identified in the patient. Literature search confirmed twelve other cases of this scenario, namely, severe under-virilization in utero followed by spontaneous virilization around puberty in NR5A1-related 46,XY DSD. Of interest, Leydig cell hyperplasia was documented in 6 out of 9 patients for whom testicular histology was available. To keep in mind about the possible restoration of Leydig cell function around pubert...

Source: Endocrine Journal - September 19, 2018 Category: Endocrinology Tags: Endocr J Source Type: research