Successful twin pregnancy after embryo donation to a patient with XY gonadal dysgenesis

A twin pregnancy was established in a patient with XY gonadal dysgenesis. The pregnancy was supported with exogenously administered hormones for the initial 100 days. The infants were delivered by emergency cesarean section at 35 weeks' gestation when severe preeclampsia developed in the mother.     

46,XY pure gonadal dysgenesis with gonadoblastoma

A case of gonadoblastoma on one side in streak gonads in a phenotypic female with chromosomal 46,XY pattern is described. The histopathological resemblance between gonadoblastoma and sex cord tumor with annular tubules is discussed. The high serum testosterone level, being unrelated to the administration of human chorionic gonadotropin is valuable for the diagnosis of gonadoblastoma in an individual with dysgenetic gonads. Gonadoblastoma is frequently very small in size and is located in ectopic regions, so that laparotomy with biopsy has been stressed. The hormonal supplement for a postgonadectomized girl is also discussed.     

Successful pregnancy in a patient with a 46,XY karyotype

OBJECTIVE: To report a case of successful pregnancy in a patient with 46,XY karyotype with primary ovarian failure. DESIGN: Case report. SETTING: Fertility Research Center, G.G. Hospital, Chennai, Tamil Nadu, India. PATIENT(S): A 27-year-old woman with hypoplastic uterus, normal fallopian tubes on both sides, and gonadal dysgenesis. INTERVENTION(S): Chromosomal analysis, diagnostic laparoscopy, donor oocyte program, gamete intrafallopian transfer, and gonadectomy. MAIN OUTCOME MEASURE(S): Response to hormone replacement therapy and the probability of achieving a pregnancy by a tubal procedure. RESULT(S): Treatment was successful, and the patient delivered a live baby. CONCLUSION(S): A hypoplastic uterus of patients with the 46,XY karyotype can be stimulated by the use of cyclical steroid therapy to accommodate pregnancy and facilitate tubal procedures in patients with normal fallopian tubes.     

Successful therapy of metastatic embryonal carcinoma coexisting with gonadoblastoma in a patient with 46,XY pure gonadal dysgenesis (Swyer''s syndrome)

A case of gonadoblastoma associated with metastatic embryonal carcinoma occurring in a phenotypic female with 46,XY pure gonadal dysgenesis is presented. Two years after treatment with surgery and combination chemotherapy the patient is disease free. This is the third reported case and first reported cure in the English-language literature over the past 25 years. Current management is reviewed.     

Pure gonadal dysgenesis with an XY chromosomal constitution (Swyer's syndrome): Report of two cases.

Two cases of Swyer's syndrome, characterized by rudimentary streaks in association with a 46,XY chromosome karyotype are reported. Both individuals were tall, with sparse axillary and pubic hair, and breasts were undeveloped in one and well developed in the other (she had some estrogen therapy). One had infantile but otherwise normal external genitals, while the other had poor development of labia majora and no clitoris. The vagina in each was normal, with a small cervix and uterus, and vaginal smears of the preadolescent type. Urinary 17-ketosteroids were normal, while gonadotropin levels were elevated. The gonadal streaks were extirpated, and histologic examination revealed the presence of fibrous stroma but no ova or follicles. Scattered clumps of Leydig cells and mesonephris remnants were found in one patient. Both patients responded well to cyclic hormonal therapy, i.e., menstrual withdrawal bleeding and breast development.     

A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically

A case of pure gonadal dysgenesis was investigated. The patient was an 18-year-old Japanese woman with a history of primary amenorrhea. She had poorly developed breasts, a hypoplastic uterus, a normal vagina and infantile genitalia. The patient's karyotype was 46,XYp-/ 47,XXYp-. Microsatellite analysis revealed that the X chromosomes of this patient originated from one of the two maternal X chromosomes. DNA analysis of the Y chromosome revealed that she had a deletion of SRY (the sex-determining region on the Y chromosome). She underwent laparoscopic gonadectomies with a final pathology consistent with gonadoblastoma. Laparoscopic surgery is recommended as it is much less invasive and associated with rapid postoperative recovery.     

Case report of dysgerminoma in a patient with 46,XX pure gonadal dysgenesis

A clinicopathological study of a 42-year-old female with pure gonadal dysgenesis and dysgerminoma was made. At the age of 29, the patient with primary amenorrhea had been evaluated clinically and cytogenetically. (1) The results of cytogenetic studies were X-chromatin positive and revealed a karyotype in peripheral blood leukocytes of 46,XX. (2) Laboratory studies indicated hypergonadotropic hypogonadism and no response of the gonads to the human menopausal gonadotropin stumulation test. (3) At laparotomy, the gonads were streak-like. Pathological examinations of biopsy specimens from both gonads revealed dense, fibrous connective tissue resembling ovarian stroma and no primary follicles. Eleven years after the laparotomy, the patient complained of lower abdominal distention and severe pain, and laparotomy then revealed a 15 × 17-cm right solid adnexal mass occupying the pelvic cavity. The histological diagnosis of tissues from the partially removed tumor was pure dysgerminoma. Second-look operation after Linac X-ray irradiation showed complete remission of the residual tumor. Insofar as we are aware, the present patient represents the first case of dysgerminoma which occurred in the dysgenetic gonads of a phenotypic female with normal 46,XX sex-chromosomal constitutions in peripheral blood leukocytes and the skin fibroblasts although a possibility exists that mosaicism was possibly present but undetected, particularly since the streak gonads were not analyzed chromosomally.     

Familial 46,XY pure gonadal dysgenesis and gonadoblastoma/dysgerminoma: case report

The case reports of two sisters admitted for evaluation of primary amenorrhea are presented. Gynecological and endocrinological investigations and chromosomal analysis led to the diagnosis of familial 46,XY gonadal dysgenesis. Both sisters underwent bilateral salpingo-oophorectomy and hysterectomy. Histological examination revealed dysgenetic gonads with gonadoblastoma and dysgerminoma. Five years after treatment by surgery and irradiation the patients are well and free of recurrence. These cases again confirm the risk of malignancy and the necessity of prophylactic gonadectomy in all patients with gonadal dysgenesis and Y chromosomal material.     

Bilateral gonadoblastoma producing steroid hormones in a patient with 45,X/46,XY gonadal dysgenesis.

A case of bilateral gonadoblastoma in a phenotypic female with 45,X/46,XY gonadal dysgenesis is presented. Hormonal investigations revealed that serum testosterone, estradiol and beta-human chorionic gonadotropin decreased following excision of the tumors, but follicle-stimulating hormone and luteinizing homrone levels increased further. Immunohistochemical staining for testosterone and estradiol was positive in both Leydig and lutein-like cells in the tumor. It is suggested that gonadoblastoma is capable of producing testosterone and estradiol, and Leydig or lutein-like cells may be the actual source of these steroid hormones.     

Clinical,pathologic, and genetic findings in a case of 46, XY pure gonadal dysgenesis (Swyer's syndrome): I. Dysgerminoma and gonadoblastoma

Cytogenetic, pathologic, and clinical studies were conducted on a phenotypically female patient with primary amenorrhea and infertility. Analysis of blood cultures with routine and Giemsa-banded preparations indicated that the chromosomal complement of the patient was 46,XY. Buccal and peripheral blood smears prepared for fluorescent analyses confirmed the presence of a single F-body (Y chromosome). Pathologic examination of tissues removed at total hysterectomy and bilateral salpingo-oophorectomy revealed a gonadoblastoma of the right gonad, dysgerminoma of the left gonad, and an infantile hypoplastic uterus. The data were consistent with a diagnosis of 46,XY pure gonadal dysgenesis (Swyer's syndrome).