Swyer syndrome presenting as dysgerminoma: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but typical Mullerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old patient with Swyer syndrome presenting with primary amenorrhoea and with previous diagnosis four years earlier of a malignant dysgerminoma in the right ovary.

A case of a 45,X,46,X+mar male phenotype mosaic Turner syndrome with a mixed gonadal germ cell tumor / Philippine Journal of Obstetrics and Gynecology

@#Turner syndrome is a congenital condition affecting 1 in every 2500 female live births. This condition is characterized by complete or partial loss of the X chromosome. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual presentation of a case of Turner syndrome – a 31-year-old Filipino with male phenotype mosaic Turner syndrome, with 46,X,+mar[46]/45,X[4] chromosome, presenting with ambiguous genitalia and a pelvoabdominal mass. The patient underwent exploratory laparotomy, peritoneal fluid cytology, adhesiolysis, tumor debulking (gonadectomy) appendectomy, omentectomy, identification and inspection of bilateral ureters and bladder, gonioscopy and biopsy of the urogenital cavity (bladder vs. vagina). Histopathology revealed a mixed gonadal tumor, consisting of 70% yolk sac tumor, and 30% dysgerminoma. The patient eventually succumbed to postoperative complications. Postmortem fluorescence-in situ hybridization revealed a 46,X,+mar[46]/45,X,[4].ish der (Y) (DYZ3+), a marker of chromosome Y origin, consistent with a mosaic type Turner syndrome, associated with increased risk for gonadal malignancy.

Disgerminoma en un adolescente con síndrome de Down: Reporte de Caso / Dysgerminoma in an adolescent with Down's syndrome: A case report

Introducción: Los tumores de las células germinales son la neoplasia maligna del ovario más pre-valente en adolescentes y niñas, son detectados generalmente en estadios iniciales. No se conoce la asociación con el síndrome de Down, motivo de presentación del presente caso. Caso Clínico: Se presenta el caso de una niña de 13 años de edad con síndrome de Down, referida por una masa supra púbica dolorosa de dos meses de evolución. Taller diagnóstico: Los estudios de extensión detectaron un tumor a nivel pélvico dependiente de ovario izquierdo, por lo que se planificó una tumorectomía. El estudio histopatológico determinó la presencia de un tumor germinal con componente de disgerminoma y trofoblástico. Evolución: La paciente fue prescrita con tratamiento quimioterápico, con una evolución favorable a los 16 meses de seguimiento. Conclusión: la clínica clásica de tumores de células germinales en el síndrome de Down es poco indicativa; en la mayoría de los casos se trata de preservar la fertilidad, inclusive siendo niñas porta-doras de Síndrome de Down. El seguimiento en el presente caso ha sido favorable a 16 meses.

Introduction: Germ cell tumors are the most prevalent ovarian malignancy in adolescents and girls; they are generally detected in early stages. The association with Down syndrome, the reason for presenting this case, is unknown. Clinical Case: We present the case of a 13-year-old girl with Down syndrome, referred by a painful suprapubic mass with two months of evolution. Diagnostic workshop: The extension studies detected a tumor at the pelvic level dependent on the left ovary, for which a lumpectomy was planned. The histopathological examination determined the presence of a germ cell tumor with a dysgerminoma and trophoblastic component. Evolution: The patient was prescribed chemotherapy treatment, with favorable development at 16 months of follow-up. Conclusion: The classic symptoms of germ cell tumors in Down syndrome are not very indicative; In most cases, it is about preserving fertility, even when girls are carriers of Down Syndrome. Follow-up, in this case, has been favorable for 16 months.

Swyer syndrome (46, XY complete gonadal dysgenesis): A rare case of primary amenorrhea / Philippine Journal of Obstetrics and Gynecology

@#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.

A successful spontaneous pregnancy after surgery and chemotherapy in a patient with recurrent dysgerminoma: A case report / Philippine Journal of Obstetrics and Gynecology

@#Dysgerminoma comprises 3%–5% among ovarian malignancies, mostly seen in adolescent and early adult women. The recurrence rate is approximately 10%–20%, occurring within 2 years of diagnosis, and has been reported that more than 75% occur in the 1st year. A 19‑year‑old nulligravid initially presented with severe abdominal pain, who underwent emergency exploratory laparotomy and left salpingo‑oophorectomy, whose histopathologic result revealed dysgerminoma, Stage IC2. Recurrence of dysgerminoma was noted on the contralateral ovary 10 months after for which she had undergone another surgery for wedge resection of the right ovarian mass and complete surgical staging. She received adjuvant chemotherapy without complications. Despite two consecutive surgeries and chemotherapy, she had conceived naturally and her pregnancy was carried to term with no complications and delivered to a live baby girl by normal spontaneous delivery. This case is a proof of how fertility‑sparing surgeries and chemotherapy in dysgerminoma can successfully preserve reproductive functions for future conceptions.

Disgerminoma ovariano na gestação: relato de caso / Ovarian dysgerminoma in pregnancy: a case report

Os disgerminomas são tumores malignos de células germinativas ovarianas, são raros, geralmente acometem mulheres em idade fértil e têm bom prognóstico e sobrevida elevada. Paciente de 20 anos, primigesta com 26 semanas de gestação, foi admitida no centro obstétrico da Fundação Hospitalar Santo Antônio em Blumenau- SC com quadro de dor abdominal intensa refratária à analgesia e desconforto respiratório. Ressonância magnética demonstrou derrame pleural, moderada ascite e volumosa lesão expansiva de aspecto sólido-cístico em anexo direito. Foram realizadas salpingo-oforectomia à direita e omentectomia parcial e coletado lavado peritoneal. Anatomopatológico evidenciou disgerminoma. A paciente seguiu acompanhamento gestacional nos serviços de pré-natal de alto risco e oncologia. Devido à imaturidade fetal, manteve-se conduta expectante e, após o parto normal com 37 semanas, foi realizado estadiamento e iniciada quimioterapia adjuvante. Devido à baixa incidência e à raridade de tumores de células malignas ovarianas, relatos de casos como este são importantes para discutir as melhores estratégias de manejo clínico.(AU)

Dysgerminomas are rare malignant ovarian germ cell tumors that generally affect adolescence and early adulthood, have a good prognosis and high survival. Patient 20 years old, gestation 1, at 26 weeks of gestation, was hospitalized at the obstetric center of Fundação Hospitalar Santo Antônio in Blumenau-SC, with severe abdominal pain refractory to analgesia and respiratory discomfort. Magnetic resonance showed pleural effusion, moderate ascites and a massive expansive lesion with a solid cystic aspect in the right ovary. Right salpingoophorectomy, partial omentectomy and peritoneal lavage were collected. Anatomopathological evidence showed dysgerminoma. Patient followed gestational follow-up at high-risk prenatal and oncology services. Due to fetal immaturity, expectant management was maintained and after vaginal delivery at 37 weeks, staging was performed and adjuvant chemotherapy was started. Due to the low incidence and rarity of ovarian malignant cell tumors, case reports such as this one are important to discuss the best clinical management strategies.(AU)

Hipercalcemia en paciente pediátrica con disgerminoma ovárico: a propósito de un caso / Hypercalcemia in a pediatric patient with ovarian dysgerminoma: A case report

La hipercalcemia asociada a tumores malignos es una entidad poco frecuente en pediatría (0,5-1,3 % de los cánceres pediátricos). Es causada por diferentes mecanismos fisiopatológicos y los síntomas de presentación suelen ser inespecíficos, pero potencialmente graves. Presentamos un caso clínico de una paciente de 12 años con diagnóstico de disgerminoma ovárico bilateral. La enfermedad se presentó con hipercalcemia grave, tratada con hiperhidratación asociada a diuréticos de asa, bifosfonatos y, por último, la resección quirúrgica del tumor, que permitió la resolución definitiva del cuadro. A pesar de tratarse de un trastorno hidroeléctrico poco habitual en pediatría, dada la potencial gravedad de la hipercalcemia, es importante la detección y el tratamiento tempranos, con el fin de evitar complicaciones en el corto y el largo plazo

Hypercalcemia associated with malignant tumors is a rare entity in pediatrics (0.5-1.3 % of pediatric cancers). It responds to different pathophysiological mechanisms and the typical symptoms shown are usually nonspecific, but potentially serious. We present a clinical case of a 12-year-old patient with a bilateral ovarian dysgerminoma who was diagnosed with severe hypercalcemia at the onset, which required hyperhydration associated with loop diuretics, bisphosphonates and, eventually, the tumor resection surgery that allowed the final resolution of the clinical picture.Despite being a rare hydroelectric disorder in pediatrics, given the potential severity of hypercalcemia, early detection and treatment are important in order to avoid potential short- and long-term complications.

Disgerminoma de ovario con componente sincitiotrofoblástico en una adolescente / Ovarian dysgerminoma with syncythiotrophlastic component in a teenage woman

INTRODUCCIÓN. Los tumores de células germinales del ovario de carácter maligno son infrecuentes en la adolescencia. Los disgerminomas se caracterizan por crecimiento rápi-do, diseminación linfática, alta sensibilidad a la radioterapia y quimioterapia. OBJETIVO. Establecer la presentación clínica, métodos diagnósticos y tratamiento para el manejo del disgerminoma ovárico en una adolescente. CASO CLÍNICO. Paciente mestiza de 14 años que acudió por dolor abdominal y masa palpable en región abdominopélvica asociados a elevación de marcadores séricos tumorales. Los reportes de imagen informaron masa ane-xial derecha, sólida de bordes lobulados y bien definidos. RESULTADOS. Se realizó exére-sis del tumor con protocolo de ovario conservador. El postoperatorio describió tumor ovári-co de 20 cm, lobulado y sólido que comprometió el ovario derecho en toda su extensión. El estudio histopatológico reportó: disgerminoma en estadio patológico IA moderadamente diferenciado, con extensión tumoral a pared de la trompa uterina derecha. DISCUSIÓN. El caso coincidió con otros reportes descritos en la literatura, donde la presentación clínica fue similar y el abordaje terapéutico con un protocolo de ovario conservador más la quimio-terapia adyuvante fueron la elección más óptima para preservar la función endocrina y la fertilidad en la paciente. CONCLUSIÓN. Los exámenes complementarios para determinar el diagnóstico fueron los marcadores tumorales, la ecografía pélvica y la tomografía axial computarizada simple y contrastada de abdomen y pelvis. La cirugía conservadora abierta es gold standard complementada con quimioterapia adyuvante en la adolescente.

INTRODUCTION. Germ cells tumors of the ovary of a malignant nature are uncommon in the adolescence. Dysgerminomas are characterized by rapid growth, lymphatic disse-mination, high sensitivity to radiotherapy and chemotherapy. OBJECTIVE. Establish the clinical presentation and diagnostic methods of ovarian dysgerminoma in the pediatric age for a correct therapeutic approach. CLINICAL CASE. A mestiza female of 14 years old, who has abdominal pain and a palpable mass in the abdominal pelvic region, and also elevation of the serum tumor markers. Image reports showed right solid adnexal mass with well-defined lobed edges. RESULTS Tumor exeresis was performed with a conservative ovarian protocol. The postoperative findings described a 20 cm, lobulated, solid ovarian tumor that compromised the right ovary in its entirety. The histopathological study repor-ted: moderately differentiated pathological stage dysgerminoma IA, with tumor extension to the wall of the right uterine tube. DISCUSSION. The case agrees with other reports described in the literature where the clinical presentation was similar and the therapeutic approach with a conservative ovary protocol plus adjuvant chemotherapy were the most optimal choice to preserve endocrine function and fertility in the patient. CONCLUSION. The complementary exams to reach the diagnosis were tumor markers, pelvic ultrasound and simple and contrasted computarized axial tomography of the abdomen and pelvis. Open conservative surgery was the gold standard supplemented with adjuvant chemothe-rapy in adolescent.

Ovarian dysgerminoma with Müllerian anomaly: a case report

Ovarian dysgerminoma causing multifocal metastases in young bitch / Disgerminoma ovariano causando metástases multifocais em cadela jovem

The ovarian neoplasias are unusual in canine species, mainly originated from germinative cells. Among these, dysgerminoma is a rare neoplasm in bitches, predominantly affecting senile and small and medium breeds. They are large, rounded, smooth surface, painless and firm in consistency. The clinical signs commonly demonstrated by patients with this neoplasia are abdominal distension and secondary signs of hyperestrogenism. The diagnosis should be based on the association of history, clinical signs, radiographic, ultrasonographic, cytological, histopathological and immunohistochemical exams. The treatment is the surgical castration and metastases are uncommon. Due to the rarity in bitches, specifically the young animals, this study aimed to describe a case of left ovarian dysgerminoma, of considerable size and adherence in adjacent organs, in a Brazilian Fila, whose showed considerable increase in abdominal volume and progressive weight loss. The diagnosis was confirmed by means of complementary x-ray, ultrasound, histopathological and immunohistochemical tests. Even with the recommended surgical treatment (castration), the patient demonstrated severe respiratory symptoms and increased abdominal volume after two months, and the complementary exams suggested pulmonary and multifocal metastases and the tutor chose euthanasia. As presented by the results, although rare in bitches, dysgerminoma should be included in the differential of ovarian neoplasias, including the young ones.

As neoplasias ovarianas são de ocorrência incomum na espécie canina, principalmente as originadas de células germinativas. Dentre estas, o disgerminoma é uma neoplasia rara em cadelas, acometendo predominantemente fêmeas senis e de raças pequenas e médias. Apresentam-se como massas grandes, arredondadas, de superfície lisa, indolores e de consistência firme. Os sinais clínicos comumente demonstrados por pacientes com este tipo neoplásico incluem distensão abdominal e sinais secundários de hiperestrogenismo. O diagnóstico deve ser baseado na associação do histórico, sinais clínicos, exames radiográficos, ultrassonográficos, citológicos, histopatológicos e imunohistoquímicos. O tratamento de escolha é a castração cirúrgica, sendo que as metástases são incomuns. Perante a raridade em cadelas, em específico as jovens, este relato teve como propósito discorrer um caso de disgerminoma ovariano esquerdo, de tamanho considerável e aderência em órgãos adjacentes, em uma Fila Brasileira, cuja sintomatologia incluiu considerável aumento de volume abdominal e emagrecimento progressivo. O diagnóstico foi confirmado por meio de exames complementares de raios-x, ultrassom, histopatológico e imunohistoquímicos. Mesmo com a instituição dotratamento cirúrgico preconizado (castração), a paciente demonstrou grave sintomatologia respiratória e aumento de volume abdominal após dois meses e, como os exames complementares foram sugestivos de metástases pulmonares e multifocais, o tutor optou pela eutanásia. Diante dos resultados, pode-se admitir que apesar de raro em cadelas, o disgerminoma deve ser incluído no diferencial das neoplasias ovarianas, incluindo as jovens.

Padrão histopatológico e incidência de carcinomatose peritoneal ao diagnóstico em mulheres com câncer de ovário / Histopathological pattern and incidence of peritoneal carcinomatosis at diagnosis in women with ovarian cancer

Objetivo: Descrever o padrão histopatológico e identificar a incidência de carcinomatose peritoneal no momento do diagnóstico de mulheres diagnosticadas com neoplasia de ovário. Métodos: Trata-se de um estudo transversal e descritivo, baseado na análise secundária de dados correspondentes aos prontuários de mulheres adultas com diagnóstico de neoplasia de ovário de um serviço de referência em oncologia clínica. Foram analisados 40 prontuários entre janeiro de 2007 e janeiro de 2017. Resultados: Ao estadiamento segundo o sistema da International Federation of Gynecology and Obstetrics, três mulheres (7,5%) apresentavam estadiamento clínico (EC) II, três (77,5%) estágio ECIII com carcinomatose peritoneal/invasão da pelve e seis (15%) estágio ECIV com metástases à distância, especialmente para pulmão e fígado. Em relação ao padrão histopatológico, 20 mulheres apresentaram adenocarcinoma seroso papilífero de alto grau (50%), 4 (10%) adenocarcinoma seroso papilífero de baixo grau, 3 (7,5%) adenocarcinoma endometrioide, 3 (7,5%) tumor de teca/granulosa, 3 (7,5%) carcinoma de células claras, 3 (7,5%) tumores não classificados, 2 (5%) disgerminoma e 2 (5%) com cistoadenocarcinoma mucinosos. Conclusão: É nítida a necessidade de mais estudos envolvendo essa patologia, de modo a favorecer o diagnóstico e a intervenção em estágios mais precoces e reduzir desfechos desfavoráveis. (AU)

Objective: To describe the histopathological pattern, and to identify the incidence of peritoneal carcinomatosis at the time of the diagnosis of women diagnosed with ovarian neoplasm. Methods: This is a cross-sectional and descriptive study, based on the secondary analysis of data corresponding to the medical records of adult women diagnosed with ovarian neoplasm in a reference service of clinical oncology. A total of 40 medical records were analyzed between January 2007 and January 2017. Results: At the staging (FIGO system) of the International Federation of Gynecology and Obstetrics, three women (7.5%) had clinical staging (EC) II staging, 31 (77.5%) were in the ECIII stage, with peritoneal carcinomatosis/pelvic invasion, six (15%) were in the ECIV stage, with metastases at a distance, especially to lung and liver. Regarding the histopathological pattern, twenty women had high-grade papillary serous adenocarcinoma (50%), 4 (10%) with low-grade papillary serous adenocarcinoma, 3 (7.5%) with endometrioid adenocarcinoma, 3 (7.5%) with granulosa-theca tumor, 3 (7.5%) with clear cell carcinoma, 3 (7.5%) with unclassified tumors, 2 (5%) with dysgerminoma, two (5%) with mucinous cystadenocarcinoma. Conclusions: There is a clear need for further studies involving this pathology, in order to favor diagnosis and intervention at earlier stages and to reduce unfavorable outcomes. (AU)

Síndrome de Frasier, primer caso reportado en Perú: first reported case in Peru / Frasier´s syndrome: first reported case in Peru

El síndrome de Frasier es una enfermedad rara producida por la mutación del gen WT1, caracterizado por pseudohermafroditismo masculino, disgenesia gonadal 46XY y enfermedad glomerular. Reportamos el caso de una mujer de 18 años, diagnosticada a los 12 años de síndrome nefrótico con desarrollo precoz de enfermedad renal crónica terminal y requerimiento de diálisis. A los 17 años se le detectó una tumoración abdominal. La laparotomía exploratoria reveló tumoración anexada a la trompa derecha que se extendía hasta la pared posterior del útero. Se le realizó histerectomía abdominal total con salpingo-ooforectomía bilateral. El diagnóstico anátomo-patológico fue disgerminoma. La paciente tenía amenorrea primaria y ausencia de caracteres sexuales secundarios. El estudio de corpúsculo de Barr de células de mucosa bucal fue negativo para cromatina sexual y el cariotipo fue 46, XY (Disgenesia Gonadal). El estudio genético reportó mutación heterocigótica en el intrón 9 del gen WT1. El cuadro es compatible con síndrome de Frasier, primer caso reportado en Perú. (AU)

Frasier´s syndrome is a rare disease caused by a mutation in the WT1 gene and is characterized by male pseudo hermaphroditism, gonadal dysgenesis 46XY and glomerular disease. We report the case of an 18-year-old female patient diagnosed at the age of 12 years of age of nephrotic syndrome who rapidly progressed to chronic failure needing dialysis. At the age of 17-years of age she presented an abdominal tumor, a laparotomy revealed a tumor attached to the right fallopian tube. An hysterectomy with bilateral fallopian tube extirpation, pathological findings revealed a dysgerminoma. The patient had a history of primary amenorrhea and absence of secondary sexual features. The study of Barr´s corpuscle of the oral mucosa was negative for sexual chromatin and the karyotype was 46 XY (gonadal dysgenesis). The genetic study revealed heterozygous mutation in the 9 gene WT1. The clinical presentation is compatible with Frasier´s syndrome, fist time reported in Peru. (AU)

A case report on ovotesticular disorder of sexual development 46, XY with malignant mixed germ cell tumor (yolk sac tumor, dysgerminoma, mature cystic teratoma) / Philippine Journal of Obstetrics and Gynecology

This paper reports a case of a 19 year-old born with ambiguous genitalia, who presented with abdominopelvic mass diagnosed to have Ovotesticular Disorder of Sexual Development (OT-DSD) 46, XY with Malignant Mixed Germ Cell Tumor (Yolk Sac Tumor, Dysgerminoma, Mature Cystic Teratoma,). She underwent two surgeries and had gone through six cycles of Vincristine, Dactinomycin and Cyclophosphamide chemotherapy. OT-DSD is a rare condition by the presence of both histologically proven testis and ovary in the same individual. The report describes the clinical, biochemical, imaging, and histopathologic findings and outcomes of OT-DSD complicated with gonadal tumor. Diagnostic work up, pre-operative preparations, intra operative management, post-operative follow up and chemotherapy along with psychiatric support for gender identity and assignment are discussed. This paper emphasizes the importance of multidisciplinary effort from the different fields of medicine namely reproductive endocrinology, gynecologic oncology, surgery, psychiatry, and anesthesiology.

A case of malignant dysgerminoma in a slaughtered dairy cow / 대한수의학회지

An abnormally enlarged right ovary and a mass in fat surrounding the right kidney were discovered in a dairy cow during routine postmortem examination at slaughter. The ovary was dark reddish and multinodular in shape. Numerous cystic structures were identified in the mass. Histopathologically, the ovary was completely replaced with large, uniform, polyhedral neoplastic cells containing vesicular nuclei and prominent nucleoli. The mitotic index was high. In the lymphatic vessels, tumor emboli were observed. Another mass in the fat surranding the right kidney had the same histological features as the ovarian mass. This animal was diagnosed with malignant dysgerminoma and metastasis to other peritoneal organs.

Cáncer de ovario en el embarazo: reporte de un caso / Ovarian cancer in pregnancy: case report

Antecedentes: La asociación entre cáncer y embarazo es infrecuente, con una incidencia entre 0,02-0,1 por ciento ocupando el cáncer de ovario (CAO) el tercer lugar entre las neoplasias ginecológicas más frecuentemente asociada a la gestación, con tasas entre 1/10.000 a 1/100.000 embarazos. Objetivo: Divulgar un caso clínico de interés para la comunidad médica. Caso clínico: Gestante de 22 años que consulta por presentar dolor abdominal, vómitos, disnea y aumento de circunferencia abdominal. Presenta tumoración parauterina que alcanzaba a hipocondrio derecho, e ingresa con diagnostico de embarazo interrumpido de 12 semanas, tumoración de ovario; síndrome de pseudo Meigs y anemia. Mediante ecografía transabdominal se confirma lesión en fosa ilíaca y flanco derecho multilobulada de 17,3 x 9,9 x 13,7 cm, concordante con imágenes de RMN donde se aprecia como una tumoración ovárica sólido-quística. Se práctica laparotomía y la biopsia por congelación diagnosticó tumor ovario de células germinales (disgerminoma). Se procede a practicar histerectomía total con feto obitado in útero, más salpingo-ooforectomía bilateral. Egresando en buenas condiciones y actualmente en quimioterapia. Conclusión: La coincidencia de CAO durante el embarazo es rara, siendo los digerminomas los tumores malignos más frecuentemente diagnosticados.

Background: The association between cancer and pregnancy is infrequent, with an incidence of 0.02 to 0.1 percent; occupying ovarian cancer (OCA) in third place among the most common gynaecological malignancies associated with pregnancy, with rates between 1/10,000 to 1/100,000 pregnancies. Aim: To disseminate clinical case of interest to the medical community. Case report: A 22 years old pregnant who consulted for abdominal pain, vomiting, dyspnoea and increased abdominal girth. Who has an anexial tumour reaching right upper quadrant, which was admitted with diagnosis of interrupted pregnancy of 12 weeks, ovary's tumour, pseudo Meigs' syndrome and anaemia. Transabdominal ultrasound confirmed space occupying lesion in the right lower quadrant and flank multilobed of 17.3 x 9.9 x 13.7 cm, with concordance in MRI which is seen as a mixed ovarian tumour. Laparotomy was practice and the frozen biopsy was diagnosed as ovarian germ cell tumour (dysgerminoma). It proceeds to total hysterectomy with death fetus in uterus, with bilateral salpingo oophorectomy. Withdrawal in good condition and currently under chemotherapy regimen. Conclusion: The coincidence of OCA during pregnancy is rare, the dysgerminoma are the most frequently diagnosed malignancy.

Familial germ cell tumor.

Familial testicular germ cell tumors are well known in literature. Only few cases are reported where both brother and sister of the same family suffered from germ cell malignancies. We present a family where the proband is a survivor of ovarian dysgerminoma stage IA. Her elder male sibling became acutely ill and was detected to have disseminated testicular malignancy with grossly elevated markers and vegetations in the mitral valve leaflets. Despite all measures he could not be saved. Presence of germ cell malignancies in the siblings of different sex in the same family points toward a genetic susceptibility. Literature review revealed only six similar cases. A discussion regarding the rare occurrence of familial germ cell malignancies with the affected family members may be worthwhile.

Long-term disease free and successful pregnancy in a woman with gonadal dysgenesis and malignant germ cell tumor

To report a case of long-term disease free and successful pregnancy after fertility sparing staging surgery with adjuvant chemotherapy in a 46,Xy gonadal dysgenetic with malignant germ cell tumor. A case report from a university hospital about a 19-year-old female with 46,XY karyotype [Swyer syndrome]. The patient underwent bilateral gonadectomy and staging with uterus preservation. Six course adjuvant chemotherapy with VBP [Vinblastin, Bleomycin, Cisplatin] was given. The case got pregnant through IVF- embryo donation. Disease free period and successful pregnancy is reported. After treatment the patient is free of the disease after 11 years follow-up. She underwent in vitro fertilization treatment with oocyte donation and gave birth to a healthy ch. Improved multimodality treatment, allowance for consideration of fertility options for some women with gynecologic cancers. Since major concern in women with XY gonadal dysgenesis is ovarian malignancy, even with stage II dysgerminoma hysterectomy may not be required in some cases considering the opportunity for childbearing with the use of embryo transfer

A retrospective review of pathological outcomes of 129 adnexal torsion cases in pre and post-menopausal women / 대한산부인과내시경학회지

OBJECTIVE: The purpose of this study was to evaluate the pathologic outcomes of ovarian torsion and assess the safety of prompt surgical treatment thereof regardless of the age of patients and menopausal status. METHODS: A retrospective chart review was conducted in patients who were diagnosed with adnexal torsion postoperatively from 1999 through 2009 at Yonsei University Health System. Data pertaining to the patient's age at diagnosis, menopausal status, preoperative symptoms, surgical mode, surgical pathologic outcome, and postoperative treatment were obtained. RESULTS: A total of 129 patients (median age: 34.0 years, range: 7-79 years) were operatively proven with adnexal torsion. Among these patients, 10 were pathologically diagnosed to have malignant or borderline ovarian tumors (7.7%): six mucinous (4.6%), one serous borderline tumor (0.8%), one granulosa cell tumor (0.8%), and one dysgerminoma (0.8%), and one serous adenocarcinoma (0.8%). Four patients received further treatment with chemotherapy. None of these patients were in their menopause. CONCLUSION: Our study showed the low probability of ovarian malignancy in ovarian torsion. Therefore, when a patient is suspected with ovarian torsion, prompt surgical intervention should not be delayed for fears of malignancy regardless of the patient's menopausal status.