Bilateral inguinal masses or hernias in a female teenager with delayed menarche: Think of Complete Androgen Insensitivity Syndrome (CAIS), a case report

Abstract

IntroductionComplete Androgen Insensitivity Syndrome (CAIS) is a rare sexual development disorder with X-linked recessive inheritance. It is prevalent in 1:20400 to 1:99000 of female phenotypes, yet characterized by an XY genotype. Cases of CAIS usually present with primary amenorrhea together with unilateral/bilateral inguinal hernias. Case presentationA previously healthy 19 year old sexually inactive girl presents to our clinics for delay in menarche and bilateral palpable inguinal masses 3 years ago. She has normal female habitus, tanner stage 3 and external female genetalia with sparse pubic hair. She has a family history of 2 aunts (mother side) having infertility with Bilateral inguinal hernias surgery. Hormonal tests showed male range testosterone levels. MRI showed bilateral inguinal masses with Mullerian structures agenesis and a misdiagnosis of Mayer-Rokitansky-Küster-Hauser syndrome (MRHKS) was interpreted. While karyotype showed XY genotype. She is then planned for bilateral orchiectomy. Final pathology of the 2 specimens taken showed testicular tissue correlating with CAIS. DiscussionCAIS patients presents with near normal female external genetalia, absence of Mullerian structures, taller status than regular females and testosterone levels equal or higher than male levels. Different imaging types together with karyotyping are crucial in diagnosing and differentiating CAIS from other entities such as MRHKS and Swyer syndrome. Treatment debates include prepubertal or postpubertal gonadectomy correlating with the age related malignancy rate and site of testis followed by Hormonal replacement therapy. CAIS management needs a multidisciplinary approach and decisions by the patient or his family sometimes. ConclusionCAIS must be suspected in any case of young females with bilateral inguinal hernias as in our case, and precise diagnostics tests such as MRI and Karyotyping must be done followed by biopsy or excision for diagnosis and then adequate treatment. Hormonal therapy must be continued after gonadectomy that is best to be postpubertal.