Preimplantation genetic testing and prenatal diagnosis in a family with pseudovaginal perineoscrotal hypospadias: A case report.
Journal
Medicine
ISSN: 1536-5964
Titre abrégé: Medicine (Baltimore)
Pays: United States
ID NLM: 2985248R
Informations de publication
Date de publication:
17 Nov 2023
17 Nov 2023
Historique:
medline:
22
11
2023
pubmed:
21
11
2023
entrez:
21
11
2023
Statut:
ppublish
Résumé
Pseudovaginal perineoscrotal hypospadias (PPSH) is a rare autosomal recessive disorder of sex development caused by biallelic mutations in SRD5A2. PPSH is characterized by a vaginal-like blind ending perineal opening, penoscrotal hypospadias, and impaired masculinization. We reported preimplantation genetic testing and prenatal diagnosis in a family with PPSH. Whole-exome sequencing of the family identified 2 SRD5A2 pathogenic variants (c.578A>G and c.607G>A). Haplotype analysis showed that the variants were inherited from the previous generation of this family. During subsequent in vitro fertilization, preimplantation genetic testing was performed on 9 embryos. One unaffected embryo was transferred, resulting in a singleton pregnancy. The prenatal diagnosis at 20 weeks' gestation confirmed the fetus was unaffected. A healthy female infant weighing 3100 g and measuring 50 cm was delivered vaginally at 39+5 weeks of gestation. This case highlights the use of preimplantation genetic testing and prenatal diagnosis to prevent the transmission of PPSH in families at risk. Our approach provides an effective strategy for identification and management of families with autosomal recessive disorders like PPSH.
Identifiants
pubmed: 37986304
doi: 10.1097/MD.0000000000036171
pii: 00005792-202311170-00028
pmc: PMC10659598
doi:
Substances chimiques
SRD5A2 protein, human
EC 1.3.99.5
Membrane Proteins
0
3-Oxo-5-alpha-Steroid 4-Dehydrogenase
EC 1.3.99.5
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e36171Informations de copyright
Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors have no conflict of interest to disclose.
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