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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
- Source :
- Sexual Development. 13:60-66
- Publication Year :
- 2019
- Publisher :
- S. Karger AG, 2019.
-
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.
- Subjects :
- endocrine system
Embryology
Testicular Disorder
Endocrinology, Diabetes and Metabolism
030232 urology & nephrology
Physiology
030209 endocrinology & metabolism
Heterozygote advantage
Biology
medicine.disease
Pubic hair
03 medical and health sciences
Testosterone Secretion
0302 clinical medicine
Testis determining factor
Hypergonadotropic hypogonadism
medicine.anatomical_structure
Mutation (genetic algorithm)
medicine
Penis
Developmental Biology
Subjects
Details
- ISSN :
- 16615433 and 16615425
- Volume :
- 13
- Database :
- OpenAIRE
- Journal :
- Sexual Development
- Accession number :
- edsair.doi...........5704741568bac6c8e517f0336b4e0653