Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study.

PURPOSE: In this report, we characterize the timing and behavior of malignant ovarian germ cell tumors (GCTs) in pediatric patients with dysgenetic gonads compared to those with normal gonadal development. PATIENTS AND METHODS: Patients from the Children's Oncology Group AGCT0132 with malignant ovarian GCTs were included. Within this population, we sought to identify patients with gonadoblastoma, streak ovaries, or other evidence of gonadal dysgenesis (GD). Patients with malignant GCTs containing one or more of the following histologies-yolk sac tumor, embryonal carcinoma, or choriocarcinoma-were included. Patients were compared with respect to event-free survival (EFS) and overall survival (OS). RESULTS: Nine patients with GD, including seven with gonadoblastoma (mean age, 9.3 years), were compared to 100 non-GD patients (mean age, 12.1 years). The estimated 3-year EFS for patients with GD was 66.7% (95% CI 28.2-87.8%) and for non-GD patients was 88.8% (95% CI 80.2-93.8%). The estimated 3-year OS for patients with GD was 87.5% (95% CI 38.7-98.1%) and for non-GD patients was 97.6% (95% CI of 90.6-99.4%). CONCLUSION: Patients presenting with nongerminomatous malignant ovarian GCTs in the context of GD have a higher rate of events and death than counterparts with normal gonads. These findings emphasize the importance of noting a contralateral streak ovary or gonadoblastoma at histology for any ovarian GCT and support the recommendation for early bilateral gonadectomy in patients known to have GD with Y chromosome material. In contrast to those with pure dysgerminoma, these patients may represent a high-risk group that requires a more aggressive chemotherapy regimen.

Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.

OBJECTIVE: Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of psychiatric morbidity in adult women diagnosed with complete androgen insensitivity syndrome (CAIS) or complete gonadal dysgenesis (46,XY GD and 46,XX GD) differs from that in women with premature ovarian insufficiency (POI) or age-matched population controls. METHODS: This cross-sectional study was conducted at the Karolinska University Hospital, Stockholm, Sweden, and included 33 women with different DSDs: 20 CAIS, 6 46,XY GD, 7 46,XX GD, 21 women with POI and 61 population-derived controls. Psychiatric morbidity was assessed using the Mini International Neuropsychiatric Interview plus (MINI+). To complement the MINI+, three self-report questions were used to evaluate current and previous psychiatric history. Results are presented as p values and estimated risks (odds ratio [OR], 95% confidence intervals [CI]) of psychiatric conditions among women with CAIS or GD in comparison with women with POI and age-matched population-derived controls. RESULTS: Twenty-eight of the 33 women (85%) with CAIS or GD met the criteria for at least one psychiatric disorder according to the MINI+, with depression and anxiety disorders being most common. This was significantly higher compared with population controls (52%) (OR 5.1, 95% CI 1.7-14.9), but not compared to women with POI, who had a high frequency of psychiatric diagnoses (76%). CONCLUSION: The increased psychiatric morbidity in women with CAIS and GD highlights the need for clinical awareness of the psychiatric vulnerability in these patients.

Disgenesia gonadal pura o Síndrome de Swyer. A propósito de un caso con degeneración tumoral: melanoma / Pure gonad dysgenesia or Swyer sindrome. A case report having tumoral development: melanoma

Se presenta una niña de 14 años de edad, con 10 días de evolución de dolor lumbar, polaquiuria y discreto dolor generalizado a la palpación abdominal. Tras diferentes estudios de laboratorio y de imagen se le halló una masa tumoral que abarcaba toda la gónada derecha con siembra metastática en hígado. Los marcadores tumorales fueron normales. En la exploración quirúrgica, en donde se resecó completamente el tumor primario, se observó además, infiltración peritoneal masiva, ovario izquierdo en estría y un útero de tipo infantil. El diagnóstico presuntivo de disgenesia gonadal pura se confirmó con el estudio cromosómico que reveló ser 46 XY. Los análisis de inmunomarcaje y microscópicos informaron de melanoma primario de la gó- nada resecada. Con dicho diagnóstico se inició una serie de quimioterapia para melanoma avanzado, no obteniéndose respuesta. Se le indicaron cuidados paliativos hasta su fallecimiento ocurrido dos meses después (AU)

A 14 year old girl having 10-days lumbar pain, polaquiuria and moderate pain to palpation is reported. Blood and urine analysis were normal. Abdominal ultrasound scan showed cavity free and solid, rounded, heterogeneous, intrapelvic mass compressing bladder and uterus. Magnetic resonance image was performed showing right gonad compromise with extensive liver and sacro-lumbar spine invasion. Tumoral markers were ruled out. During surgery, primary tumor mass localizad in the right gonad was completely excised. Melanotic peritoneal and hepatic disemination were observed. The patient had left (..) (AU)