Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumors: a report of 15 cases in a national medical center / 中华妇产科杂志

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.

The modern testicular prosthesis: patient selection and counseling, surgical technique, and outcomes / 亚洲男科学杂志(英文版)

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.

Desarrollo puberal espontáneo en una mujer con disgenesia gonadal pura 46, XY / Spontaneous puberal development in a woman with pure gonadal dysgenesis 46, XY

Presentamos el caso de una mujer de 26 años que tuvo su menarquia a los 16 seguida de dos ciclos menstruales espontáneos y luego amenorrea. Su examen físico mostró una estatura normal, proporciones corporales eunucoides, desarrollo mamario adulto, distribución pilosa normal, genitales externos femeninos normales sin virilización, útero hipoplásico y anexos no palpables, lo que fue confirmado por ecografía. Su cariotipo fue 46, XY. Tenía niveles plasmáticos elevados de FSH y normales de testosterona. Con el diagnóstico de disgenesia gonadal pura XY en su forma completa, se realizó gonadectomía bilateral. El estudio microscópico, demostró presencia de tejido fibroso tipo estroma ovárico con múltiples calcificaciones nodulares, sin estructuras foliculares, ni células de Leydig. Sertoli o carácter maligno. El cariotipo de ambas gónadas fue 46, XY. El estudio molecular de su ADN genoma mostró ser SRY positivo. Se discuten las bases del diagnóstico de disgenesia gonadal completa XY en este caso y los posibles mecanismos etiopatogénicos involucrados

Disgenesia gonadal pura com cariótipo XY e agenesia de vagina / Pure gonadal dysgenesis with XY karyotype with agenesis of the vagina

Os autores apresentam um caso de paciente com fenótipo feminino, agenesia de vagina, cariótipo 46, XY e presença de gônada rudimentar, calssificam como disgenesia gonadal pura e utilizam a técnica de neovaginoplastia com âmnio, tendo sucesso.

Disgenesia gonadal pura 46,xy / Pure gonadal dysgenesis 46,xy

Os autores relatam um caso de disgenesia gonadal 46,XY, forma incompleta, exporádica, que aos 20 anos de idade näo apresentavam tumor gonadal. Descrevem o tratamento cirurgico e hormonal e chamam a atençäo para o diagnóstico diferencial entre disgenesia gonadal pura e mista