RESUMO
INTRODUCTION: Complete 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 PRESENTATION: A 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. DISCUSSION: CAIS 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. CONCLUSION: CAIS 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.
RESUMO
BACKGROUND Intussusception is defined as the penetration or telescoping of a segment of bowel into a more distal segment. Intussusception is a common cause of small bowel obstruction, especially in children. However, this finding is much less common in adults. Furthermore, when present in adults, intussusception is often found in association with some sort of organic mass, such as a tumor or pancreatic divisum that acts as a lead point, dragging the proximal segment into the distal one. The presence of an intussusception in an adult patient with no obvious lead point is very uncommon. CASE REPORT Here we report a case of ileo-ileo-cecal double intussusception in an adult patient that yielded no lead point on surgical exploration. The patient was a 25-year-old female who presented with symptoms of obstruction and was diagnosed with the intussusception via computed tomography scan. Surgical resection of the bowel was necessary as reduction could not be accomplished. CONCLUSIONS The finding of intussusception in an adult patient is far less common than in children, and even more rare when a lead point is not established. When surgery is required, a thorough exploration should be performed to search any signs of a potential lead point. Laparoscopy is usually preferred to laparotomy; however, in this case the degree of distention determined the surgical approach. Thus, due to severe distention, laparotomy was preferred.
