A missense mutation in NR5A1 causing female to male sex reversal: A case report
| Autor: | Anu Bashamboo, Maryam Razzaghy-Azar, Mehdi Totonchi, Ken McElreavey, Mehrshad Seresht-Ahmadi, Mandana Rastari, Masomeh Askari |
|---|---|
| Přispěvatelé: | Academic Center for Education, Culture and Research (ACECR), University of Science and Culture (USC), Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP), Tehran University of Medical Sciences (TUMS), Royan Institute for Reproductive Biomedicine [Tehran, Iran], The present study was supported in part by a grant from the Royan Research Institute, Tehran, Iran and by grant from the Iran National Science Foundation (INSF). |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Steroidogenic factor 1
sex reversal MESH: 46 XX Testicular Disorders of Sex Development Arginine Testicular Disorder Urology [SDV]Life Sciences [q-bio] 030232 urology & nephrology NR5A1 MESH: Testosterone MESH: Atrophy Biology 03 medical and health sciences 0302 clinical medicine Endocrinology MESH: Whole Exome Sequencing MESH: Luteinizing Hormone MESH: Follicle Stimulating Hormone medicine Missense mutation testicular DSD MESH: Heterozygote Genetics MESH: Mutation Missense 030219 obstetrics & reproductive medicine MESH: Humans MESH: Hypospadias Male Phenotype MESH: Testis MESH: Karyotype Karyotype MESH: Adult General Medicine Sex reversal medicine.disease MESH: Steroidogenic Factor 1 MESH: Male Hypospadias MESH: Semen Analysis MESH: Azoospermia MESH: Iran |
| Zdroj: | Andrologia Andrologia, 2020, 52 (6), pp.e13585. ⟨10.1111/and.13585⟩ |
| ISSN: | 0303-4569 1439-0272 |
| DOI: | 10.1111/and.13585⟩ |
| Popis: | International audience; Testicular disorder of sex development (TDSD) is a rare condition, characterised by a female karyotype, male phenotype, small testes and cryptorchidism. Only a few studies have investigated the genetic causes of male sex reversal. This is the clinical report of an Iranian 46,XX patient presented with TDSD and associated with hypospadias. Whole-exome sequencing (WES) of the patient ascertained the heterozygous missense variant (c.274C>T) in the NR5A1 gene, resulting in a substitution of arginine with tryptophan. The arginine 92 residue was located in a highly conserved region of steroidogenic factor 1 (SF1), which is crucial for its interaction with DNA. Our finding is in line with previous reports, which highlighted the role of p.(Arg92Trp) variant in TDSD individuals. As far as we are aware, this is the first report of TDSD with p.(Arg92Trp) variant in the Iranian population. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|