A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.

Abstract

SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.

• Authors: Akiko Saito-Hakoda, Junko Kanno, Dai Suzuki, Sayaka Kawashima, Miki Kamimura, Koji Hirano, Kiyohide Sakai, Maki Igarashi, Maki Fukami, Ikuma Fujiwara
• Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation (Sex Dev) Vol. 13 Issue 2 Pg. 60-66 ( 2019) ISSN: 1661-5433 [Electronic] Switzerland
• PMID: 30739115 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2019 S. Karger AG, Basel.

Chemical References

• NR5A1 protein, human
• SRY protein, human
• Sex-Determining Region Y Protein
• Steroidogenic Factor 1
• Testosterone

Topics

• 46, XX Disorders of Sex Development (blood, genetics)
• Adolescent
• Child
• Child, Preschool
• Follow-Up Studies
• Heterozygote
• Humans
• Infant
• Male
• Mutation (genetics)
• Puberty (genetics)
• Sex-Determining Region Y Protein (metabolism)
• Steroidogenic Factor 1 (genetics)
• Testis (growth & development, pathology)
• Testosterone (blood)