PERFORMING GONADECTOMY IN A 15-YEAR-OLD BULGARIAN GIRL WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME: A CASE REPORT

Abstract

Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic Disorder of Sex Development linked to the X chromosome. It occurs due to mutations—either from mother inheritance or arising spontaneously—in the androgen receptor (AR) gene, located in the Xq11-q12 region. Individuals with CAIS have a 46, XY karyotype, meaning they are genetically male. However, due to a complete inability of their body's tissues to respond to androgens, they develop female external genitalia. Internally, they have fully formed but undescended testes and their bodies do not develop male reproductive structures. Diagnosis typically involves genetic testing, hormone analysis, and imaging to assess the presence of testes. This is a case report of a 15-year-old female-looking Bulgarian patient with primary amenorrhea who underwent prophylactic gonadectomy after ultrasound examination and MRI was performed. From the performed imaging studies, Sertoli cell adenoma was suspected. Histological findings were rudimentary testicles with the presence of paratesticular cysts (more prominent on the left). Rudimentary Fallopian tubes were also present. The patient's karyotype was 46, XY without any evidence of aberrations. A precise algorithm should be established for diagnosis, treatment and prevention for patients with CAIS, in order to improve the quality of life and prognosis. The key, in our opinion, is the multidisciplinary approach and the creation of specialized centers for children with rare genetic disorders.

Keywords

• complete androgen insensitivity syndrome (cais)
• sertoli cell adenoma
• hormonal replacement therapy
• persistence of fallopian tubes in cais