No abstract available.
Gonadal Dysgenesis, 46,XY*

Gonadal Dysgenesis, 46,XY ; Gonadal Dysgenesis

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

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

OBJECTIVE: The presence of Y Chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y material in these patients. But sometimes it is difficult to detect Y material only with karyotyping. This study was performed to evaluate the usefulness of the SRY gene screening in blood and gonad by using PCR in detecting the presence of Y material and possible tissue mosaicism in patients with gonadal dysgenesis as Tumer syndrome and 46, XY pure gonadal dysgenesis (PGD, Swyer syndrome). METHOD: In 26 patients with gonadal dysgenesis, we screened for Y material by using PCR for SRY gene in peripheral leukocytes and in gonadal tissues of some patients. They were 22 cases of Tumer syndrome (7 45,XO, 2 46,Xi(Xq), 3 45,XO/46,XX, 5 45,XO/46Xi(Xq), 1 45,XO/46,XY, 1 45,XO/46,Xi(Yq), 1 45,XO/47,XYY, 1 46,XX,del(X)(q24) and 1 46,X,+mar) and 4 cases of 46,XY pure gonadal dysgenesis. PCR for SRY gene in the gonadal tissue was performed in 5 Turner syndrome and 2 PGD to determine the cryptic Y mosaicism between blood and gonad. RESULTS: By using PCR analysis for SRY, Y chromosome material was detected in the blood of 4 of 22 Turner syndrome patients (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY, and 45,XO/47,XYY), 3 of 4 46,XY pure gonadal dysgenesis. Discrepancy between karyotyping and blood PCR for SRY was noted in 1 Turner syndrome (45,XO/46,Xi(Xq)) and 1 PGD. Laparoscopic gonadectomy was performed in Y containing or SRY positive cases. In addition, PCR analysis for SRY in the gonads of 5 Turner syndrome and 2 PGD showed discrepancy between blood and gonad or between both gonads in 3 Turner syndrome (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY) and 2 PGD patients. CONCLUSION: In gonadal dysgenesis, PCR analysis for SRY gene is useful to detect the cryptic Y mosaicism that is sometimes undetected by karyotyping. And since there may be tissue mosaicism, it is necessary to evaluate Y mosaicism in various tissues even in the case without Y chromosome on karyotyping.
Genes, sry ; Gonadal Dysgenesis* ; Gonadal Dysgenesis, 46,XY ; Gonadoblastoma ; Gonads* ; Humans ; Karyotyping ; Leukocytes ; Mass Screening ; Mosaicism* ; Polymerase Chain Reaction ; Prostaglandins D ; Sex Differentiation ; Turner Syndrome ; Y Chromosome

Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16.8±6.7) and (16.7±6.6) years, respectively. Six cases were preoperatively diagnosed as Swyer syndrome, of which 4 cases received bilateral gonadectomy with or without hysterectomy, while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy, respectively. Of the 9 patients postoperatively diagnosed as Swyer syndrome, unilateral gonadectomy, removal of gonadal tumor, and unilateral gonadectomy with hysterectomy were performed in 6 patients, 2 patients, and 1 patient, respectively. Mixed malignant germ cell tumor (MGCT;10 cases), yolk sac tumor (4 cases), and immature teratoma (1 case) were the pathological subtypes, in the descending order. There were International Federation of Gynecology and Obstetrics (FIGO) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 1 case, respectively. Eleven patients received reoperation for residual gonadectomy after a average delay of (7.9±6.2) months, including 8 MGCT-NDG patients and 1 gonadoblastoma patient, no tumor involved was seen in the remaining gonads in the other 2 cases. Ten patients experienced at least one recurrence, with a median event free survival of 9 months (5, 30 months), of which 2 patients received surgery only at the time of initial treatment. All patients with recurrence received surgery and combined with postoperative chemotherapy. After a median follow-up of 25 months (15, 42 months), 10 patients were disease-free, 3 patients died of the tumor, 1 died of side effects of leukemia chemotherapy, and 1 survived with disease. Conclusion: The incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%; timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.
Female ; Humans ; Retrospective Studies ; Gonadal Dysgenesis, 46,XY/surgery* ; Gonadoblastoma/surgery* ; Neoplasms, Germ Cell and Embryonal/surgery* ; Ovarian Neoplasms/pathology*

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

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

Gonadoblastoma and dysgerminoma developed in a 24-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis. This patient presented with primary amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and bilateral streak gonads. A 46,XY karyotype was made by lymphocyte culture. The patient was counseled to undergo a prophylactic bilateral gonadectomy, but she refused. Three years and three months after the initial diagnosis she felt a growing pelvic mass. Bilateral gonadectomy and total hysterectomy were performed. Histological examination revealed gonadoblastoma and dysgerminoma on both gonads. After surgery the patient received radiation therapy and also was started on hormone replacement therapy. Two years and two months after treatment by surgery the patient is well and free of recurrence.
Adult ; Dysgerminoma/*etiology/pathology/therapy ; Female ; Gonadal Dysgenesis, 46,XY/*complications ; Gonadoblastoma/*etiology/pathology/therapy ; Humans ; Ovarian Neoplasms/*etiology/pathology/therapy

Swyer syndrome is a form of complete gonadal dysgenesis, characterized by a 46, XY karyotype with female phenotype. They present with primary amenorrhea and absence of secondary sexual characteristics. It is believed to be due to SRY gene deletions or mutations. They are born with female external genitalia and not suspected until puberty fails to occur. This paper presents a case of 22-year old female with female external genitalia, an infantile uterus and cervix and streak gonads and absent secondary sexual characteristics, who presented with primary amenorrhea. Gonadotropin levels are elevated with low estradiol levels. Karyotype showed a normal male 46,XY. Since the streak gonads have the propensity for tumor development in 20-30% of the cases, laparoscopic bilateral gonadectomy with salpingectomY was done which showed gonadoblastoma on the right gonad. Early diagnosis is crucial in the initiation of treatment to prevent osteoporosis and enhance development of secondary sexual characteristics and eventually initiation of menstruation. In-vitro fertilization using donor oocyte has proven to be successful in some reported cases.

Human ; Female ; Young Adult ; Gonadoblastoma ; Estradiol ; Menstruation ; Salpingectomy ; Amenorrhea ; Cervix Uteri ; Gene Deletion ; Gonadal Dysgenesis, 46,xy ; Gonads ; Turner Syndrome ; Puberty ; Oocytes ; Gonadotropins