CASE REPORT OF COMPLETE ANDROGEN INSENSITIVITY SYNDROME

Abstract

INTRODUCTION
Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. AIS is an X-linked recessive disorder that is classified as complete, partial, or mild based on the phenotypic presentation.

RESULTS
A 2 year and 10-month-old child, presented to private practice for inguinal hernia at 15 months age. Herniotomy was performed at 20 months age and there was intra operative finding of gonad in the inguinal canal. Histology confirmed male gonad. This child was raised as girl as external genitalia was phenotypically female, no clitoromegaly with 2 perineal opening. Karyotyping confirmed 46 XY with variant in AR gene:c.5A>G(p. Glu2GIy). Pelvic UTS showed presence of vagina, no uterus and ovaries visualised .FSH was 4.1 mU/mL, LH was 2.7 mU/mL, testerone was normal with value of <0.35, Antimüllerian hormone was elevated 164.2 pmol/L.

CONCLUSION
CAIS is a genetic condition in which a child is genetically male but develops female sex characteristics. CAIS occurs when there is problem with one of the genes on the X chromosome at Xq11-12and code for protein with a molecular mass approximately 110kDa (androgen receptor gene). It governs how a developing fetus responds to androgen-hormones that bring about male characteristics. A child with CAIS has a genetic makeup of XY. Because the Y chromosome is present, the child is born with testis,, although the testes are undescended; but because of the defective gene on the X chromosome, other male characteristics don’t develop, so the child resembles a female l. Most children with CAI are raised as female.