Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene.
Case Report
A 37yr old married woman visited Medicover hospital with chief complaint of inability to conceive. She had primary amenorrhoea. Physical examination revealed normal breast development and scanty pubic and axillary hair. Gynaecological examination revealed blind-ending vagina and absent uterus. Cytogenetic analysis revealed 46 XY karyotype. MRI Pelvis revealed absence of uterus and ovaries. Small vaginal canal and well-defined ovoid structures in inguinal canal on both sides. Endocrinological profile was done,FSH-19.50 miu/ml, LH- 24.83 miu/ml, oestradiol 45.8pg/ml and testosterone levels were elevated. After confirmation of diagnosis as Complete Androgen Insensitivity Syndrome patient was counseled and explained the need for gonadectomy. Laparoscopic gonadectomy was done. Hpe report confirmed as Undescended testis. After the procedure patient was under endocrinologist supervision and is taking orally 1 mg of oestradiol daily.
Discussion
The diagnosis of DSD is mainly clinical and is usually identified during an investigation for primary amenorrhoea. Individuals with Complete androgen insensitivity (CAIS) have 46 XY karyotype and present as female appearance and bilateral undescended testis. The risk of malignancy of undescended testis is 3-5% but increases to 15% after puberty. Gonadectomy should be done once they attain puberty, after spontaneous breast development through aromatisation of gonadal androgens. Hormonal substitution therapy should be administered along with psychological support. Reproduction options-Surrogacy with donor oocyte and adoption.
Conclusion
Individuals with CAIS need appropriate care from doctors and support from family. The diagnosis and management requires a multidisciplinary approach.
