Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome

Fetal Pediatr Pathol. 2017 Dec;36(6):432-436. doi: 10.1080/15513815.2017.1332120. Epub 2017 Dec 5.

Abstract

Introduction and aims: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses.

Case report: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c.3864T>C (p. Phe917Leu). Amniocentesis was performed when the mother presented to our hospital with a subsequent twin pregnancy. Mutation analysis revealed that both fetuses were hemizygous for this mutation. The aborted fetuses had typical female external genitalia and bilateral testes in abdomen.

Conclusion: The c.3864T>C AR novel mutation is responsible for complete androgen insensitivity syndrome, and its identification was subsequently used for a subsequent successful prenatal diagnosis.

Keywords: Androgen receptor (AR) gene; Complete androgen insensitivity syndrome (CAIS); prenatal diagnosis; twin fetuses.

Publication types

  • Case Reports

MeSH terms

  • Amniocentesis
  • Androgen-Insensitivity Syndrome / genetics*
  • China
  • DNA Mutational Analysis
  • Diseases in Twins*
  • Female
  • Hemizygote
  • Humans
  • Karyotyping
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Pregnancy
  • Pregnancy, Twin
  • Prenatal Diagnosis*
  • Transcription Factors / genetics*

Substances

  • TCF20 protein, human
  • Transcription Factors