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

The testicular prosthesis can be an afterthought for providers when performing an orchiectomy for testicular cancer, torsion, atrophic testis, or trauma. However, data suggest that patients find the offer of a testicular prosthesis and counseling regarding placement to be extremely important from both a pragmatic and a psychosocial perspective. Only two-thirds of men undergoing orchiectomy are offered an implant at the time of orchiectomy and of those offered about one-third move forward with prosthesis placement. The relatively low acceptance rate is in stark contrast with high patient satisfaction and low complication rates for those who undergo the procedure. The most common postoperative patient concerns are minor and involve implant positioning, size, and weight. Herein, we provide an up-to-date review of modern preoperative evaluation, patient selection, expectation management, surgical technique, and expected outcomes for testicular prostheses.
Counseling ; Gonadal Dysgenesis, 46,XY/surgery* ; Humans ; Male ; Orchiectomy ; Patient Satisfaction ; Patient Selection ; Postoperative Complications/epidemiology* ; Prosthesis Implantation/methods* ; Spermatic Cord Torsion/surgery* ; Testicular Diseases/surgery* ; Testicular Neoplasms/surgery* ; Testis/surgery* ; Urologic Surgical Procedures, Male/methods*

Adult ; Animals ; Female ; Frameshift Mutation/genetics* ; Genes, sry ; Gonadal Dysgenesis, 46,XY/genetics* ; Humans ; Menarche ; Ovary/pathology* ; Oviducts/pathology* ; Sex-Determining Region Y Protein/genetics*

OBJECTIVE: To explore the pathogenesis of a 46,XY female with sex reversal. METHODS: Peripheral blood lymphocytes of the patient were subjected to G-banding karyotype analysis. Sex chromosomes were analyzed with fluorescence in situ hybridization (FISH). SRY gene was analyzed by Sanger sequencing. The whole exome of the patient was subjected to next generation sequencing. Copy number variations (CNVs) of the NR0B1, SF1, SRY, SOX9 and WNT4 genes were validated by multiplex ligation-dependent probe amplification (MLPA). RESULTS: The patient had a 46,XY karyotype. FISH analysis showed that her sex chromosomes were X and Y. No mutation was found in the SRY gene, and no pathogenic mutation was detected in her exome. However, a duplication spanning approximately 67.31 kb encompassing the MAGEB1, MAGEB3, MAGEB4 and NR0B1 genes at Xp21, was predicted by software analysis. MLPA confirmed duplication of the NR0B1 gene in the patient and her mother. CONCLUSION A duplication fragment of Xp21 encompassing the NR0B1 gene in the 46,XY female with sex reversal is transmitted from her asymptomatic carrier mother. Attention should be paid towards the insidious nature and high morbidity of this duplication.
DAX-1 Orphan Nuclear Receptor ; genetics ; DNA Copy Number Variations ; Female ; Gene Duplication ; Genes, sry ; Gonadal Dysgenesis, 46,XY ; genetics ; Humans ; In Situ Hybridization, Fluorescence

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

Objective: To determine the feasibility and short-term effect of single scrotal-incision orchidopexy (SSIO) without ligation of the processus vaginalis (PV) in the treatment of palpable undescended testis (PUDT). METHODS: This retrospective study included 109 cases of PUDT (125 sides) and 15 cases of impalpable undescended testis (IUDT). The former underwent SSIO without PV ligation (group A, n = 53) or standard inguinal orchidopexy with PV ligation (group B, n = 56) while the latter received laparoscopic exploration (group C). We analyzed the success rate of SSIO in the management of PUDT, postoperative complications, and incidence rates of hernia and hydrocele, and compared the relevant parameters between groups A and B. RESULTS: The median age of the PUDT patients was 1.4 (0.6－11.0) years. Group A included 24 cases of left PUDT (2 with hydrocele), 20 cases of right PUDT (1 with hydrocele), and 9 cases of bilateral PUDT, the success rate of which was 95.1%. Group B consisted of 27 cases of left PUDT, 22 cases of right PUDT (3 with hernias), and 7 cases of bilateral PUDT. The rate of PV patency in the PUDT patients was 80.8% (101/125). Laparoscopic exploration of the 15 IUDT patients revealed 2 cases of congenital testis absence, 6 cases of testis dysplasia, all treated by surgical removal, 3 cases of staying around the inner ring, descended by inguinal orchidopexy, and the other 4 treated by laparoscopic surgery. The incisions healed well in all cases, with no testicular atrophy, inguinal hernia or hydrocele. CONCLUSIONS Single scrotal-incision orchidopexy without PV ligation is a safe and feasible procedure for the treatment of palpable undescended testis, which avoids the risk of inguinal hernia or hydrocele.
Child ; Child, Preschool ; Cryptorchidism ; surgery ; Feasibility Studies ; Gonadal Dysgenesis, 46,XY ; diagnosis ; Hernia, Inguinal ; Humans ; Infant ; Laparoscopy ; statistics & numerical data ; Ligation ; statistics & numerical data ; Male ; Orchiopexy ; adverse effects ; methods ; Postoperative Complications ; etiology ; Retrospective Studies ; Scrotum ; surgery ; Surgical Wound ; Testicular Diseases ; diagnosis ; Testicular Hydrocele ; Testis ; abnormalities

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

Adolescent ; Chemotherapy, Adjuvant ; Female ; Gonadal Dysgenesis, 46,XY ; diagnosis ; drug therapy ; metabolism ; Gonadoblastoma ; diagnosis ; drug therapy ; metabolism ; Humans ; Neoplasms, Germ Cell and Embryonal ; diagnosis ; drug therapy ; metabolism ; Ovarian Neoplasms ; diagnosis ; drug therapy ; metabolism

Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. The social gender was female in all subjects and the age 6 to 33 years. Patients presented mainly with primary amenorrhea or short stature,and usually had specific somatic signs of Turner's syndrome. The breast development of 27 patients (84.38%) was less than level 3. The armpit hair was sparse or absent in 28 patients (87.5%) and the pubic hair was sparse or absent in 26 patients (81.25%).Other findings include naive vulva (n=18,56.25%)) and enlarged clitoris (n=5,15.63%). The average level of follicle stimulating hormone was (78.56±35.62) mIU/ml,the luteinizing hormone level was (20.23±11.35) mIU/ml,the estradiol level was (9.94±8.21) pg/ml,and the testosterone level was (0.24±0.18) ng/ml. All patients received prophylactic gonadectomy. The histopathology results showed a variety of gonads,and gonadal malignancy were observed in 4 patients.Conclusions Patients with XO/XY gonadal dysgenesis manifest primary amenorrhea or short stature,poorly developed secondary sexual characteristics,and elevated gonadotropin level. The gonads have increased risk of gonadal malignancy.
Adolescent ; Adult ; Child ; Estradiol ; blood ; Female ; Follicle Stimulating Hormone ; blood ; Gonadal Dysgenesis, 46,XY ; physiopathology ; Humans ; Luteinizing Hormone ; blood ; Retrospective Studies ; Testis ; abnormalities ; physiopathology ; Testosterone ; blood ; Turner Syndrome ; physiopathology ; Young Adult