Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation.

Autor: Snipes M; Augusta University, Department of Obstetrics and Gynecology, Augusta, GA, USA., Stokes S; Augusta University, Department of Obstetrics and Gynecology, Augusta, GA, USA., Vidalin A; Augusta University, Department of Obstetrics and Gynecology, Augusta, GA, USA., Moore LD; Texas Tech University Health Science Center, Permian Basin, Odessa, TX, USA., Schlabritz-Lutsevich N; Advanced Fertility Centers, Odessa, TX, USA., Maher J 3rd; Augusta University, Department of Obstetrics and Gynecology, Augusta, GA, USA.
Jazyk: angličtina
Zdroj: Case reports in genetics [Case Rep Genet] 2024 Jul 17; Vol. 2024, pp. 9936936. Date of Electronic Publication: 2024 Jul 17 (Print Publication: 2024).
DOI: 10.1155/2024/9936936
Abstrakt: Discordance between the genetic sex and phenotype seen on ultrasound can identify disorders of sexual development (DSD) that previously escaped detection until puberty. We describe a 46, XY disorder of sexual differentiation caused by a rare mutation in the SF1 gene (OMIM]184757, ( NR5A1 ). The mutation ( NR5A1 )-c.205C > G (p. Arg69Gly) was discovered after a phenotype-genotype discrepancy was encountered during prenatal care. The baby with 46, XY DSD has female external genitalia but evidence of Y chromosome-related regression of Müllerian structures and the absence of palpable gonads. We discussed the literature on phenotype-genotype discrepancy and the importance of care coordination between the antenatal and postnatal teams to ensure a timely diagnosis of DSD.
Competing Interests: The authors declare that they have no conflicts of interest.
(Copyright © 2024 Madeline Snipes et al.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje