Malignant Teratoma Arising in a Dysgenetic Gonad

Seraj, Ibrahim M.; Chase, Donald R.; Chase, Resa L.; King, Alan; Jacokes, Allison

doi:10.1006/gyno.1993.1203

Cited by 7 publications

(6 citation statements)

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“…The youngest case reported in the literature was in a 9‐month‐old infant with ambiguous genitalia 6 . Gonadoblastomas are benign tumours with no metastatic potential; however, they can be precursors to germ cell malignancies, such as dysgerminomas, which is the most commonly associated malignancy, or teratomas, embryonal carcinomas and endodermal sinus tumours 7,8 . In our study, there were seven cases of dysgerminoma.…”

Section: Discussionmentioning

confidence: 57%

Swyer syndrome: presentation and outcomes

Michala

Goswami

Creighton

et al. 2008

BJOG

179

149

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Objective To establish the spectrum of presentation, natural history and gynaecological outcomes in women with Swyer syndrome.Design Retrospective notes review.Setting Tertiary referral centre for disorders of sex development.Population A total of 29 adult women with Swyer syndrome.Methods Information was collected on age at diagnosis, biometric characteristics, timing of gonadectomy, histology of gonad, bone mineral density, uterine size and fertility.Main outcome measures Age at diagnosis, risk of gonadal malignancy, bone mineral density, uterine size.Results With regard to presentation, 26/29 (90%) women in this series presented with delayed puberty, and the median age at diagnosis was 17.2 years (range 0-55 years). The median age at gonadectomy was 18 years (range 9-33 years). Histology of the gonad was available in 22 women and demonstrated streak gonads with no evidence of malignancy in 12, dysgerminoma in 7 and gonadoblastoma in 3. The youngest patient diagnosed with dysgerminoma was 10 years old. The median height of the women was 1.73 m (range 1.54-1.95 m). Twelve out of the 20 (60%) women had evidence of osteopenia on dual energy X-ray absorptiometry scan. The uterine size and shape was assessed in eight women after completion of induction of puberty, and the uterine cross-section was found to be significantly lower than that in normal controls. Fertility was achieved with ovum donation in three women, all of whom had live births and one subsequently had a second successful pregnancy.Conclusion Early diagnosis of Swyer syndrome is necessary in view of the risk of dysgerminoma that can develop at an early age. Adequate hormone replacement is required to maintain bone mineral density and may improve the uterine size and shape.

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Section: Discussionmentioning

confidence: 57%

Swyer syndrome: presentation and outcomes

Michala

Goswami

Creighton

et al. 2008

BJOG

179

149

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“…Thus far, 2 cases have been reported in which the choriocarcinoma and gonadoblastoma were found in opposite gonads of 46,XY females with gonadal dysgenesis [10,11]. A 3rd case of choriocarcinoma admixed with malignant teratoma in a dysgenetic gonad, in the absence of gonadoblastoma, has also been described [12]. We report here for the 1st time the presence of a choriocarcinoma and a gonadoblastoma in the same dysgenetic gonad in a 46,XY female.…”

Section: Discussionmentioning

confidence: 71%

Coexistence of a Choriocarcinoma and a Gonadoblastoma in the Gonad of a 46,XY Female: A Single Nucleotide Polymorphism Array Analysis

et al. 2010

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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 halfsisters, 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.

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Section: Discussionmentioning

confidence: 98%

“…7,8 Choriocarcinoma, a HCG-secreting germ cell tumor, has rarely been reported under such circumstances. 8 In this case, breast development and accelerated growth under the effect of HCG might have mimicked pubertal onset, a condition that has been earlier reported. 9,10 The abrupt withdrawal of HCG as a result of tumor resection could have precipitated the vaginal bleeding, which was interpreted as menarche.…”

Section: Discussionmentioning

confidence: 98%

Ovarian Choriocarcinoma as the First Manifestation of 46,XY Pure Gonadal Dysgenesis

Lee¹,

Fong²

2011

Journal of Pediatric Hematology/Oncology

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We report a case of 46,XY pure gonadal dysgenesis (Swyer syndrome) in a phenotypically normal 12-year-old girl with a history of vaginal bleeding and early breast development, with ovarian choriocarcinoma as the first manifestation. The clues leading to the diagnosis included the failure to establish any relationship between normal menstrual cycles postoperatively and a small remaining contralateral ovary. The correct diagnosis is important for cancer prophylaxis and hormonal replacement therapy. Prepubertal and peripubertal girls presenting with gonadal germ cell tumors should be carefully evaluated for the possibility of underlying gonadal dysgenesis. A history of vaginal bleeding or early signs of puberty does not exclude the diagnosis.

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Malignant Teratoma Arising in a Dysgenetic Gonad

Cited by 7 publications

References 0 publications

Swyer syndrome: presentation and outcomes

Swyer syndrome: presentation and outcomes

Coexistence of a Choriocarcinoma and a Gonadoblastoma in the Gonad of a 46,XY Female: A Single Nucleotide Polymorphism Array Analysis

Ovarian Choriocarcinoma as the First Manifestation of 46,XY Pure Gonadal Dysgenesis

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