Atypical Presentation of Swyer Syndrome.

BACKGROUND: Swyer syndrome is a rare type of disorder of sex development and typically presents with delayed puberty and primary amenorrhea. We describe an unusual presentation of this condition. CASE: A 17-year-old female patient with typical thelarche and adrenarche presented with primary amenorrhea. Pelvic ultrasound showed normally developed uterus and bilateral ovoid hypoechoic structures suggestive of gonads. Laboratory investigations revealed highly elevated gonadotrophins with estradiol level within a range typical for a female of reproductive age and chromosome analysis showed a 46,XY karyotype. Histopathological examination of the gonadectomy specimens revealed gonadoblastoma and dysgerminoma with no functional ovarian or testicular tissue. SUMMARY AND CONCLUSION: This report reminds us the possibility of diagnosis of Swyer syndrome in the presence of normal pubertal development and normal sex steroid levels considered to be produced by gonadoblastoma.

Juvenile granulosa cell tumor--another neoplasm associated with abnormal chromosomes and ambiguous genitalia. A report of three cases.

Three infants, 3 months of age or younger with abnormal karyotypes and ambiguous genitalia, had gonadal juvenile granulosa cell tumors. Two of the patients had mixed gonadal dysgenesis and the third had an intersexual disorder of undetermined type. Two tumors arose in undescended testes, and the third in an undescended gonad of uncertain nature. The occurrence of this uncommon neoplasm in these infants indicates that it is another type of neoplasm that may develop in the gonad of a patient with an abnormal karyotype and ambiguous genitalia.

WKY/Ztm-ter: a new rat inbred strain on the WKY/Ztm genetic background with congenital teratomas.

We describe a new rat model for teratomas (WKY/Ztm-ter) which arose through a spontaneous mutation in the inbred WKY/Ztm rat strain. When the tumours of the gonads became clinically apparent, affected males were 14 to 224 days of age, whereas the females only developed tumours between days 21 and 63. Tumour incidence is not gender-dependent. However, almost all females develop bilateral tumours, while 50% of the males show unilateral tumours. Histologically, all examined tumours (n = 65) represent partially undifferentiated teratocarcinomas.

[Guideline for the prevention and early detection of breast and ovarian cancer in high risk patients, particularly in women from HBOC (hereditary breast and ovarian cancer) families]. / Leitlinie zur Prävention und Früherkennung von Brust- und Eierstockkrebs bei Hochrisikopatientinnen, insbesondere bei Frauen aus HBOC (Hereditary Breast and Ovarian Cancer) Familien.

The Austrian guideline for prevention and early detection of breast and ovarian cancer in high risk patients--particularly in women from hereditary breast and ovarian cancer families--were established with particular consideration of the most recent position paper of the European Society of Breast Cancer Specialists (EUSOMA) by the authors mentioned above. The guideline is aimed at facilitating and standardizing the care and early detection strategies in women with an elevated life time risk for breast and ovarian cancer.

Neonatal ovarian lymphangioma.

Ovarian cysts are primarily of follicular origin and ovarian lymphangioma is an extremely rare lesion. We report a case of prenatal diagnosis of unilateral ovarian cyst in which pathologic examination revealed an ovarian lymphangioma. Ovarian cystic lymphangioma should be included in the differential diagnosis of an ovarian cyst mass in neonate.

Atypical Meigs' syndrome in a neonate with ovarian torsion associated with an ovarian dermoid cyst.

We describe a female neonate with ovarian torsion, ovarian follicular and dermoid cysts, congenital ascites, pleural effusions, and respiratory distress. Her symptoms were consistent with atypical Meigs' syndrome and resolved after unilateral oophorectomy. This is the first report in a neonate of this syndrome in association with congenital ovarian disease.

[Ovarian tumors in childhood]. / Ovarialtumore im Kindesalter.

Over 16 years 60 girls underwent surgery for ovarian disease. A total of 23 girls suffered from ovarian tumors, as was confirmed by surgery and histological examination in 18 cases. In five girls ultrasound, CT, and MRT examinations showed tumors, which later turned out to be ovarian cysts; in two cases a tumor was found despite the preoperative diagnosis of an ovarian cyst. A total of 15 patients underwent total resection of the ovary, two partial tumor resections and one exploratory laparotomy. Histological findings: eight teratomas, three dysgerminomas, two endodermal sinus tumors, one cystadenoma, one thecalutein cell tumor, one Sertoli cell tumor, one germinal cell tumor, and one angiofibroma. Five tumors were malignant. Surgery and histological examinations are necessary to exclude ovarian tumors.

[Ovarian cysts and tumors in neonates, infants and children (author's transl)]. / Tumeurs et kystes de l'ovaire du nouveau-né, du nourrisson et de l'enfant.

Twenty-six girls, aged from 0 to 15 years, were operated, upon ovarian cysts and tumors from 1952 to 1977. Before the age of one year, 11 non-neoplastic cysts and 2 benign tumors were observed. After the age of one, 1 non-neoplastic cyst and 12 tumors: 8 germ-cell tumors, 3 tumors of specialized gonadal stroma, and one epithelial tumor. Three germ-cell tumors were malignant (1 girl dead of disease, 2 alive at 2 and 1 1/2 years). All three gonadal stromal tumors are benign (with a follow-up of 3 months, 4 and 20 years). Epidemiology, pathology prognosis and management of these tumors are discussed according the recent literature.

Surgical treatment of ovarian tumors in childhood.

From 1971 to 1988, 45 girls aged 1 week to 17 years were treated for a total of 46 solid and cystic tumors of the ovaries. Pathohistological examination revealed epithelial tumors in eight cases, a tumor originating from the ovarian stroma in one case, germinal tumors in 17 cases, 15 functional ovarian cysts, and five paraovarian cysts. The stroma tumor and four of the 17 germinal tumors were malignant. Surgical treatment for solid tumors consisted generally of a unilateral salpingo-oophorectomy, but in operations for cystic tumors as well, vital ovarian tissue could only rarely be preserved. Functional ovarian cysts were excised if they were larger than 5 cm. Subsequent to excision of malignant tumors, chemotherapy with cisplatin, vincristine and bleomycin was performed. On follow-up, all patients with benign lesions were well. One of the girls with malignancies died and another is undergoing chemotherapy for tumor recurrence in the contralateral ovary.

Juvenile granulosa cell tumor: a clinicopathologic study of three cases with ultrastructural observations.

We have encountered three cases of a recently recognized form of granulosa cell tumor referred to by Scully as the juvenile type, and we have made ultrastructural observations on one case. This variant is encountered almost exclusively in the first two decades, and is characterized at the optical microscopic level by a macrofollicular or a diffuse, sometime disorderly pattern of growth, often with extensive luteinization and hyperchromatic nuclei. One of our patients developed precocious pseudopuberty. Our ultrastructural observations in this case supported the concept that this tumor is a granulosa cell tumor, and the tumor showed some similarities to previously reported granulosa cell tumors. A spectrum of cells was observed ranging from well differentiated granulosa cells to stromal cells with many intermediate forms present. The stromal cells varied from being fibroblast-like to theca-like. Both granulosa and stromal cells sometimes contained abundant lipid. Evidence of luteinization, i.e. abundant smooth endoplasmic reticulum and tubular mitochondrial cristae, was not noted in either the granulosa or stromal cells. Focal areas of smooth endoplasmic reticulum were found, however, in teh cytoplasm of cells intermediate between granulosa and stromal types. These cells may represent the source of steroid hormone secretion.

Endodermal sinus tumour in girls--improved survival in metastatic disease.

In girls, endodermal sinus tumours are rare and malignant germinal tumours. They are highly lethal and it has previously been considered in cases with distant metastases at the time of diagnosis, that there is no satisfactory therapy. However, the rapid development during the last years of highly effective chemotherapeutic agents seems to have improved the survival rate. Already there are a few reports of surviving patients with metastatic disease. In our material of five girls with endodermal sinus tumour, one with metastatic disease has been treated according to a new protocol with combination therapy (cis-VAB). Four years after the operation she is alive and well without any sign of recurrence.

[Diagnosis of fetal ovarian cysts. Follow-up or differential diagnosis?]. / Diagnostik fetaler Ovarialzysten. Kontrolle oder differenzierte Abklärung?

AIM: To find better diagnostic and prognostic criteria for the prenatal evaluation of suspected fetal ovarian cysts. METHOD: 13 abdominal tumors were diagnosed sonographically and evaluated. The ultrasound equipment was an Acuson Computer Sonograph XP 128 with 3.5 MHz sector transducer (Acuson) and a realtime-ultrasound machine Sonoline SL 1 with 3 MHz linear transducer (Siemens). Picture documentation was made by Agfa Scopix camera, Sony printer documentation UPS or Panasonic video documentation VHS. If a cyst was aspirated, hormonal concentrations were measured by RIA (Radioimmunoassay). Protein levels electrolytes were also analysed and cytology performed. RESULTS: Fetal ovarian cysts are rare connatal abdominal tumours of unknown pathogenesis. Typical sonographic findings are cystic structures, partially septated with homogenous inner structures and sharp outer contours. Their ovarian origin is documented by demonstrating high hormonal activity (estrogen, progestin, testosterone). Sonographic structural variations may hint at tissue trauma or a rare fetal teratoma. CONCLUSIONS: Ultrasound guided cyst puncture with fluid analysis is helpful in the differential diagnose of suspected fetal ovarian cysts. This approach will also help avoid obstetric procedures with possible prematurity complications and post-delivery abdominal surgery. Ultrasound can be used for monitor clinically asymptomatic, uncomplicated cysts, both pre- and postnatally to avoid removal of normal ovarian tissue.