Adnexal masses in children and adolescents.

Adnexal masses in children encompass a variety of lesions of the ovaries and fallopian tubes, including ovarian cysts and tumors (benign or malignant), fallopian tube cysts and abscesses, paratubal cysts, and endometriomas. When developing a differential diagnosis for adnexal masses in childhood, the clinician must have a broad understanding of adnexal pathology and consider the patient's age, presenting complaints, physical examination findings, and imaging results to generate a list of possible diagnoses and the appropriate treatment plan. We review the clinical presentation of these lesions and discuss the current recommendations for their management.

Genome profiles of bilateral dysgerminomas, a unilateral gonadoblastoma, and a metastasis from a 46, XY phenotypic female.

We present a case report of a 16-year-old, phenotypic female with bilateral dysgerminomas, a unilateral gonadoblastoma, and a peritoneal metastasis. The patient's constitutional karyotype was 46,XY. The chromosomal copy number, examined by the comparative genomic hybridization technique, showed 3 gains in the dysgerminoma of the right ovary, 6 gains in the dysgerminoma of the left ovary, and 2 gains and 1 loss in the gonadoblastoma of the left ovary. The metastasis showed 5 gains of which 4 were also observed in the dysgerminoma of the left ovary. The DNA ploidy classifications of the gonadoblastoma and the dysgerminoma in the right ovary were tetraploid, whereas the dysgerminoma in the left ovary and the metastasis were aneuploid. We therefore propose that the metastasis most probably developed from the dysgerminoma of the left ovary.

Gonadoblastoma in androgen insensitivity syndrome: a case report.

We report a case of androgen insensitivity syndrome (AIS) characterized by malignant degeneration of the testes consisting of gonadoblastoma and dysgerminoma. AIS is a rare inherited form of male pseudohermaphroditism that can manifest as a normal female phenotype without müllerian derivatives and absence of the upper third of the vagina. A 32-year-old white 46,XY female with AIS underwent removal of the dysgenetic gonads at the Gynecological Oncology Department of the Istituto Nazionale Tumori, Milan, Italy. We investigated cytogenetic alterations, hormonal levels and the presence of neoplasia in the dysgenetic gonads. Histological analysis revealed a gonadoblastoma mixed with dysgerminoma in the left gonad and a pure dysgerminoma in the right gonad. The patient's hormonal status matched that of a male. Second-look laparotomy after chemotherapy showed a complete pathological response. AIS should be suspected in phenotypically female patients with primary amenorrhea; surgical removal of the gonads is mandatory to avoid malignant degeneration.

[Germinal cell tumors in young and adolescent girls]. / Nowotwory germinalne u dziewczat i mlodych kobiet.

OBJECTIVE: Germ cell tumours are the most common ovarian tumours in childhood and adolescence. This diverse group of tumours derives from germ cells. DESIGN: The aim of this work is presentation of germ cell tumours in the material from our clinic with characteristic clinical features, the scope of operation and effects of many years of observation. MATERIALS AND METHODS: We treated 109 girls with germ cell tumours of the ovary: 13 had malignant tumours: there were 7 patients with dysgerminomas, 2 with endodermal sinus tumour of the ovary, 3 with immature teratomas, 1 with carcinoma embryonale. Gonadoblastomas was diagnosed 4 patients and mature teratomas in 92 patients. RESULTS: 11 patient had gonadal dysgenesia with abnormal karyotype. These girls had no follicle apparatus in gonads and had elevated levels of gonadotropins. Gonadoblastoma is almost always found in patients with gonadal dysgenesis. Gonadoblastoma often produces estradiol or testosterone. There can be problems with diagnosis of the syndrome, because developmental features imitate the onset of normal puberty. Most patients with dysgerminoma have stage I of disease and surgery is sufficient. It must be suggested that patients of stage I who wish to preserve childbearing function may be treated with unilateral salpingoophorectomy and adjuvant chemotherapy. Monitoring of the treatment is connected with measurement of biochemical markers. Some of these markers are useful for monitoring of response to therapy. When levels of markers are low second look laparoscopic operation should be performed. Cytological smears and biopsy specimens from the remaining ovary, peritoneum and subdiaphragmatic area should be obtained laparoscopically. CONCLUSIONS: The sift ultrasonographic investigations can be helpful in the early diagnosis of germ cell tumours of the ovary in girls. Absence of follicle apparatus in the gonads requires determination of levels of gonadotropins and karyotype. Fertility sparing operative treatment is preferred when karyotype is normal.

[Ovarian tumors in children]. / Tumori ovarici in età pediatrica.

Ovarian tumors in children are uncommon. We reviewed all cases of ovarian tumors treated at the Department of Pediatric Surgery of Vicenza Regional Hospital from 1979 to 1994. They include 6 cases of cystic teratoma and 1 gonadoblastoma; the malignant lesions included 1 immature teratoma, 1 dysgerminoma, 1 yolk-sac tumors and 1 patient with ovarian infiltration from malignant leukemia. Only the patient with leukemia died of progression of the disease. These data show that most ovarian masses are benign. Germ-cell tumors are the most common malignancy and epithelial cell tumors are less likely. Epithelial cyst and teratomas are the most common benign lesions. Although ultrasound was 100% accurate in the diagnosis of ovarian pathology, the ultrasonogram could not distinguish between benign and malignant lesions.

Gonadoblastoma: Case report of two young patients with isochromosome 12p found in the dysgerminoma overgrowth component in one case.

Gonadoblastomas are unusual neoplasias that frequently appear in the dysgenetic gonads of women with chromosome Y anomaly. We present two cases of gonadoblastoma associated with complete gonadal dysgenesis and Turner syndrome, respectively, with dysgerminoma overgrowth found in one case. We were interested in the DNA ploidy, the presence of Y chromosome DNA sequence and the status of chromosome 12p arm among the tumor cells. We performed cytophotometry to analyze the DNA content and fluorescence in situ hybridization (FISH) to identify the Y chromosome and the isochromosome 12p within the tumor cells. The cytophotometric result showed diploid DNA content in gonadoblastoma, whereas dysgerminoma revealed aneuploid DNA. The FISH result revealed Y chromosome DNA sequence within gonadoblastoma and dysgerminoma. Isochromosome 12p was identified in dysgerminoma, but not in gonadoblastoma. We conclude that gonadoblastoma and dysgerminoma have a strong association with the Y chromosome, and dysgerminoma overgrowth is due to further chromosomal aberrations, such as isochromosome 12p. Histological, immunohistocheimcal and molecular studies should render the correct diagnosis. Identifying dysgerminoma overgrowth is crucial since it is associated with adverse prognosis and requires additional therapy.

Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis.

Females with 46,XY complete gonadal dysgenesis are at significant risk of developing germ cell tumors, mostly gonadoblastomas. We present here the case of 2 half-sisters, sharing the same father, diagnosed with 46,XY complete gonadal dysgenesis. The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive choriocarcinoma within the same gonad. No SRY mutation, chromosome abnormalities, or mosaicism were detected in blood. Single nucleotide polymorphism (SNP) profiling of the choriocarcinoma revealed a complex hyperdiploid pattern with gains of 1 to 4 copies of material from several autosomes, as well as the loss of the Y chromosome and a homozygous SNP profile without copy number change for the X chromosome. Our results are in agreement with the recurrent chromosome gains and losses previously published in germ cell tumors, and the coexistence of both tumors within the same gonad suggests that choriocarcinomas may derive from gonadoblastomas.

Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report.

Gonadoblastoma and dysgerminoma developed in a 24-year-old phenotypic female patient with 46,XY pure gonadal dysgenesis. This patient presented with primary amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and bilateral streak gonads. A 46,XY karyotype was made by lymphocyte culture. The patient was counseled to undergo a prophylactic bilateral gonadectomy, but she refused. Three years and three months after the initial diagnosis she felt a growing pelvic mass. Bilateral gonadectomy and total hysterectomy were performed. Histological examination revealed gonadoblastoma and dysgerminoma on both gonads. After surgery the patient received radiation therapy and also was started on hormone replacement therapy. Two years and two months after treatment by surgery the patient is well and free of recurrence.

Gonadoblastoma en un paciente con disgenesia gonadal mixta 45, XO/46,XY / Gonadoblastome in a patient with gonadal disgenesia mixed 45, XO/46, XY

Se presenta un caso de Gonadoblastoma en un paciente con Disgenesia Gonadal Mixta, cromatina sexual negativa y cario tipo 45,XO/46,XY, fenotipo femenino. Se hace una revisión sobre este raro tumor gonadal, presentándose algunos alcances clínicos, genéticos y terapéuticos.