Objective: The objective is to describe the clinical presentation and management of cervical agenesis. Study Design: This is a retrospective analysis of 5 patients with cervical agenesis managed in a university tertiary institution and a review of similar cases cited in literature. Results: There are only 119 cases of cervical agenesis described to date, with pelvic pain and primary amenorrhea as common presenting symptoms. Forty-nine percent presented with associated vaginal agenesis. Successful canalization was performed in 41-46 percent. Nine successful spontaneous pregnancies and by zygote intrafallopian transfer have been cited. Conclusions: Cervical agenesis is a rare condition. Concomitant vaginal agenesis occurs in nearly half of subjects. Results of successful conservative surgery are comparable between cervicovaginal agenesis and cervical agenesis but there are more morbidities and mortalities associated with the former. Hysterectomy is another option. Careful patient selection, psychological support and individualized treatment are key to proper management.
Human ; Female ; CRANE-HEISE SYNDROME ; ABNORMALITIES

Vaginal agenesis is an uncommon congenital anomaly and such complex malformations are usually incorrectly identified. Deviations from the normal embryologic events in the reproductive system may result to malformations which may exhibit with the same clinical presentation. A complete history and physical examination coupled with appropriate imaging techniques are necessary to arrive at a correct diagnosis. Physicians must be aware of the differential diagnosis and management options available. A correct diagnosis must be made prior to any surgical intervention to prevent inappropriate surgeries with their anticipated complications. In cases with vaginal outlet obstruction, an accurate diagnosis with the adequate treatment reduces the need for re-operations and subsequent complications. Reported are three misdiagnosed cases of distal vaginal agenesis resulting to unwarranted surgical interventions.
Human ; Female ; Adolescent ; ABNORMALITIES ; VAGINA ; HEMATOCOLPOS ; HEMATOMETRA ; ROKITANSKY KUSTER HAUSER SYNDROME

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.
Gonadal Dysgenesis ; Disorders of Sex Development ; Disorder of Sex Development, 46,XY

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.
Amenorrhea