• Jiayao Chen, Zhiping Zhang, Wenjing Shi, Qin Yan, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, and Xueqing Wu.
• Shanxi Medicine University, Taiyuan, Shanxi, China.
• Medicine (Baltimore). 2023 Nov 17; 102 (46): e36171e36171.

RationalePseudovaginal 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.Patient ConcernsWe reported preimplantation genetic testing and prenatal diagnosis in a family with PPSH.DiagnosisWhole-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.InterventionsDuring subsequent in vitro fertilization, preimplantation genetic testing was performed on 9 embryos. One unaffected embryo was transferred, resulting in a singleton pregnancy.OutcomesThe 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.Lessons SubsectionsThis 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.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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