Uterine Isthmic Atresia: Hope for a rare mullerian anomaly

@#The true incidence and prevalence of congenital Mullerian duct anomalies are difficult to determine. Some patients may present as adolescents with apparent primary amenorrhea, cyclical abdominal pain and sexual difficulties. It is important to ascertain a correct diagnosis for timely and appropriate interventions necessary to prevent sequelae that often affect the future fertility of these patients. This is a case of a fifteen year old with severe cyclical pelvic pain and hematuria with amenorrhea. Work up included a transrectal ultrasound and a magnetic resonance imaging of the pelvis revealing presence of a uterine corpus and cervix but absence of uterine isthmus. A conservative surgical approach was planned. The patient underwent end-to-end anastomosis of the cervix and uterine corpus. At present, the patient is regularly menstruating with no pelvic pain.

46, XY Partial Gonadal Dysgenesis diagnosed in adulthood

@#Partial Gonadal Dysgenesis (PGD) is a rare disorder of sexual development defined by sexual ambiguity and the presence of mullerian structures due to variable degrees of testicular dysgenesis in individuals with a non-mosaic 46, XY karyotype. Due to incomplete gonadal development, the external phenotype would rely on the degree of testicular function. The dysgenetic gonads found in PGD have high risk for malignant transformation. Although ambiguous genitalia was noted upon birth, a case diagnosed in adulthood is presented. Discordance between sex of rearing and the psychosexuality of the patient prompted consult. On work up, 46, XY was noted on karyotyping but presence of a uterus was seen on ultrasound. Hormonal assay revealed elevated levels of FSH and LH, while testosterone levels were low and estradiol was high. Gonadoblastoma was noted on final histopathologic evaluation. This report shall tackle thorough preoperative evaluation, surgical and postoperative management of individuals with PGD.