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.
Dysgerminoma ; mixed germ cell tumor ; mosaicism ; yolk sac tumor

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.
Swyer syndrome ; dysgerminoma ; gonadal dysgenesis

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.
Chemotherapy, Adjuvant ; Dysgerminoma ; Pregnancy ; Recurrence

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

dysgerminoma with a Müllerian anomaly (uterus didelphys). She had secondary amenorrhea, and an ovarian mass and uterus didelphys were discovered during examination. After right salpingo-oophorectomy, the tumor was confirmed as dysgerminoma, and a chromosome study revealed a normal female karyotype (46, XX). The patient completely responded to 6 cycles of chemotherapy. To our knowledge, this is the first reported case of dysgerminoma with uterus didelphys. Although gynecologic malignancies in patients with Müllerian anomalies are very rare, clinicians should be aware of the coexistence of gynecologic malignancies and uterine malformations.]]>
Adult ; Amenorrhea ; Congenital Abnormalities ; Drug Therapy ; Dysgerminoma ; Female ; Humans ; Karyotype ; Uterus

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.

Human ; Female ; Adult ; Dysgerminoma ; Testis ; Vincristine ; Dactinomycin ; Endodermal Sinus Tumor ; Gender Identity ; Anesthesiology ; Sexual Development ; Psychiatry ; Endocrinology ; Cyclophosphamide ; Teratoma

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.
Animals ; Autopsy ; Dysgerminoma* ; Female ; Kidney ; Lymphatic Vessels ; Mitotic Index ; Neoplasm Metastasis ; Ovary

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.
Adenocarcinoma ; Dysgerminoma ; Female ; Granulosa Cell Tumor ; Humans ; Mucins ; Ovarian Neoplasms ; Postmenopause ; Retrospective Studies ; Torsion Abnormality

Dysgerminomas are the most common type of malignant germ cell tumor. It primarily occurs in women under age thirty. Five percent of cases occur in phenotypic females with dysgenetic gonads.?

This paper presents a phenotypically female patient with hypogastric mass and primary amenorrhea. Eight months prior, patient underwent left salpingo- oophorectomy. Physical examination showed? absent secondary sexual characteristics along with normal external female genitalia. Intra-operative findings at that time confirmed the presence of a uterus along with absent right ovary. Hormonal studies revealed increased gonadotropin levels, decreased estrogen and female testosterone levels. Serum LDH was elevated. Karyotyping revealed XY chromosome. Pure gonadal dysgenesis is characterized by abnormal testicular determination. The syndrome, as described by the Swyer in 1955, presents the complete form of "pure" gonadal dysgenesis. This involves the association of the female phenotype, female internal genitalia, normal or tall statue and sexual infantilism with primary amenorrhea. These patients have streak gonads that do not secrete testosterone or Mullerian inhibiting factor, and therefore Mullerian derivatives develop.

?

Human ; Female ; Young Adult ; Dysgerminoma ; Amenorrhea ; Anti-mullerian Hormone ; Sexual Infantilism ; Gonadal Dysgenesis ; Turner Syndrome ; Chromosomes

Malignant ovarian tumors in children are very rare, and consist of about 1% of all childhood malignant tumors. The purpose of this study is to examine the clinical characteristics, treatment, and prognosis for children with malignant ovarian tumors. We retrospectively reviewed the medical records of children under 15 years of age with malignant ovarian tumors who had been treated surgically at Asan Medical Center between 1989 and March 2009. There were 32 patients, ranged in age at surgery from 2 to 15 years (mean; 10.4 years). The median follow-up period was 64.7 months (from 1 month to 188 months). Pathologic diagnosis were; immature teratoma (n=10), mixed germ cell tumor (n=10), and dysgerminoma (n=6). Tumor stage was classified by the staging system of the International Federation of Gynecology and Obstetrics (FIGO). The number of patients in stage I, II, III, and IV were 24 (75%), 2 (6.2%), 4 (12.5%), and 2 (6.1%), respectively. The tumor recurred in 4 patients. Seven patients of group 1 did not receive postoperative adjuvant chemotherapy, and in three of them, the tumor recurred. Twenty-five patients (group 2) underwent postoperative adjuvant chemotherapy, and there was only one recurrence. One patient who did not receive postoperative adjuvant chemotherapy and expired 10 months after operation because of tumor recurrence and distant metastasis. The overall 5-year event free survival (EFS) was 84.2%: group 1 in 44.4%, and group 2 in 95.7%. Tumor recurrence was related to the postoperative adjuvant chemotherapy (p=0.004). In conclusion, proper surgical procedures with relevant postoperative adjuvant chemotherapy might improve clinical results in children with malignant ovarian tumors.
Chemotherapy, Adjuvant ; Child ; Disease-Free Survival ; Dysgerminoma ; Female ; Follow-Up Studies ; Gynecology ; Humans ; Medical Records ; Neoplasm Metastasis ; Neoplasms, Germ Cell and Embryonal ; Obstetrics ; Ovary ; Prognosis ; Recurrence ; Retrospective Studies ; Teratoma