A CASE OF MALE GENOTYPE WITH PREDOMINANTLY FEMALE PHENOTYPE AND PARTIAL ANDROGEN INSENSITIVITY SYNDROME: A CASE REPORT

Abstract

Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the Androgen Receptor (AR) gene in which individuals with normal male karyotype 46XY and gonads can have partial to complete insensitivity to androgens, thus resulting in undescended testes and the development of a female phenotype. We present a case with partial androgen insensitivity syndrome with a female phenotype that explores the unique and diverse nature of phenotypic manifestations of this rare condition and emphasises the need for further research into the genetics of PAIS to fill the knowledge gap in the future.