No abstract available.
Gonadal Dysgenesis, 46,XY*

Gonadal Dysgenesis, 46,XY ; Gonadal Dysgenesis

Swyer syndrome is a medical condition that begins with a mutation in the SRY gene that favors the development of female reproductive organs despite the presence of Y chromosome. The aberrancy in testicular differentiation will lead to abnormal testosterone production and impaired Mullerian Inhibiting Substance secretion resulting in the formation of Mullerian derived structures and regression of Wolffian ducts. Since an XY karyotype is incompatible with follicle formation, the gonads will degenerate and become streak fibrous tissue. Patients are phenotypically female at birth with a uterus, fallopian tubes and bilateral steak gonads. Management involves puberty induction and bone loss prevention through combined hormonal replacement therapy. Bilateral gonadectomy should be performed soon after the diagnosis because of the risk of malignancy. Infertile, childbearing is only through assisted reproductive technology and oocyte donation.
Human ; Adult ; GONADAL DYSGENESIS, 46,XY ; AMENORRHEA

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

Swyer syndrome is a type of gonadal dysgenesis wherein a 46,XY karyotype presents with a female phenotype. It is a rare cause of disorder in sexual development that occurs in 1:100,000 births. Local studies are currently limited to few case reports. Sex-determining region on the Y chromosome gene mutation is the root cause of nonfunctional gonads with no hormonal or reproductive potential. They are born with normal female external genitalia but not suspected until puberty when menses do not occur or if secondary sexual characteristics do not develop. This report presents the case of a 23-year-old phenotypically female presenting with primary amenorrhea and hypogastric discomfort. Ultrasound revealed an infantile cervix and uterus with streak left ovarian tissue and a cystic mass on the right pelvic area. Gonadotropin levels were elevated, and the karyotype showed a normal male 46,XY. Laparoscopic bilateral gonadectomy with salpingectomy was done, which revealed dysgerminoma on bilateral ovarian tissues. In conclusion, this report describes a rare case of Swyer syndrome associated with ovarian dysgerminoma. Accurate and prompt diagnosis, using a systematic approach in evaluating primary amenorrhea, is crucial in initiating treatment. Our goal is to ensure hormonal replacement, fertility preservation, psychosexual and emotional stress reduction, and overall patient survival.
Disorders of Sex Development ; Dysgerminoma ; Gonadal Dysgenesis, 46,XY

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.
46, XY Disorders of Sex Development ; Androgen-Insensitivity Syndrome ; Disorders of Sex Development ; Female* ; Gonadal Dysgenesis ; Gonadal Dysgenesis, 46,XY ; Gonads ; Humans ; Karyotype* ; Male

This is a case of a 23 years-old single, nulligravid with primary amenorrhea, sexual infantilism, tall stature who presented with abdominal enlargement. Ultrasound showed a small uterus, thin tall stature who presented with abdominal enlargement. Ultrasound showed a small uterus, thin endometrium, bilateral adnexal solid masses. Extensive diagnostic work-up for the etiology of the priamry amenorrhea led to the diagnosis of Swyer syndrome. Karyotyping showed 46, XY. On laparotomy, both gonads were solid with tumor implants on the omentum, mesentery and serosa of the small uterus. Total hysteroctomy with bilateral salpingo-gonadectomy, infracolic omentectomy, tumor debulking and biopsy of implants were done. Histopathologic report showed yolf sac (endodermal sinus tumor), both gonads and aforementioned implants. The risk of neoplasia in such cases is discussed.
Human ; Female ; Young Adult ; ENDODERMAL SINUS TUMOR ; GONADAL DYSGENESIS, 46,XY ; GONADAL DYSGENESIS ; GONADOBLASTOMA ; ENDODERMAL SINUS TUMOR

Adolescent ; Adult ; Dysgerminoma ; etiology ; genetics ; Female ; Gonadal Dysgenesis ; genetics ; Gonadal Dysgenesis, 46,XY ; genetics ; Humans ; Ovarian Neoplasms ; genetics

Dysgenetic streak gonads were removed laparoscopically from a phenotypic female with Swyer syndrome(ie, XY karyotype, sexual infantalism, primary amenorrhea, and Mullerian structures). Pathologic examination revealed a dysgerminoma in one of her gonads. We report a case of dysgerminoma with 46,XY Swyer syndrome and review of literature.
Amenorrhea ; Dysgerminoma* ; Female ; Gonadal Dysgenesis, 46,XY* ; Gonads ; Humans ; Infant ; Karyotype

PURPOSE: Controversy exists regarding the best approach to impalpable testes. We determined the usefulness of diagnostic laparoscopy for the management of impalpable testes. MATERIALS AND METHODS: Between 2000 and 2008, 86 patients with a mean age of 34 months underwent diagnostic laparoscopy. An inguinal canal exploration was performed in all cases, except in patients in whom the internal spermatic vessels terminated intraperitoneally with a blind end. RESULTS: The undescended testis was right-sided in 24 patients (27.9%), left-sided in 47 patients (54.7%), and bilateral in 15 patients (17.4%). Three patients (3.5%) had bilateral impalpable testes. The vas and vessels traversed the internal ring in 51 of 89 impalpable testes (57.3%); 20 (22.5%) were localized intraperitoneally, and 18 (20.2%) were diagnosed as vanishing testes. Open orchiopexies were performed on 24 testes (27.0%) and orchiectomies were performed on 43 nubbin testes (48.3%). After a mean follow-up period of 30 months, 12 of the 14 testes (85.7%) were viable following open conventional orchiopexy, compared with 6 of the 10 testes (60%) following a 1-stage Fowler-Stephens orchiopexy. CONCLUSIONS: Diagnostic laparoscopy is a very helpful and minimally invasive technique in the diagnosis of impalpable testes, especially when preoperative ultrasonography is not sufficiently informative.
Cryptorchidism ; Follow-Up Studies ; Gonadal Dysgenesis, 46,XY ; Humans ; Inguinal Canal ; Laparoscopy ; Male ; Orchiectomy ; Orchiopexy ; Testis