Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: case report and review of the literature

Esin, Sertaç; Başer, Eralp; Küçüközkan, Tuncay; Magden, Hasim Ata

doi:10.1007/s00404-011-2073-9

Cited by 30 publications

(48 citation statements)

References 12 publications

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“…On the basis of this finding, it would seem that gonadectomy should not be recommended in cases of type 3 Frasier syndrome. However, the existence of 8 nonFrasier syndrome cases with gonadoblastoma in pure 46,XX females suggests that there is a level of risk of gonadal tumor in type 3 Frasier syndrome that cannot be ignored (37,38). The prudent recommendation in type 3 Frasier syndrome cases might, therefore, be that medical practitioners carry out careful follow-up examinations of gonadal (ovarian) tissues.…”

Section: Type 3 Frasier Syndrome (Female External Genitals With Sex Cmentioning

confidence: 99%

Gonadal Tumor in Frasier Syndrome: A Review and Classification

Ezaki

Hashimoto

Asano

et al. 2015

Cancer Prevention Research

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Frasier syndrome is a rare inherited disease characterized by steroid-resistant nephrotic syndrome, gonadal tumor, and male pseudohermaphroditism (female external genitalia with sex chromosomes XY), which is based on a splice site mutation of Wilms tumor-suppressor gene 1 (WT1). Several unusual Frasier syndrome cases have been reported in which male pseudohermaphroditism was absent. We reviewed 88 Frasier syndrome cases in the literature and classified them into three types (type 1–3) according to external genitalia and sex chromosomes, and described their clinical phenotypes. Type 1 Frasier syndrome is characterized by female external genitalia with 46,XY (n = 72); type 2 by male external genitalia with 46,XY (n = 8); and type 3 by female external genitalia with 46,XX (n = 8). Clinical course differs markedly among the types. Although type 1 is noticed at the mean age of 16 due to mainly primary amenorrhea, type 2 and 3 do not present delayed secondary sex characteristics, making diagnosis difficult. The prevalence of gonadal tumor is high in type 1 (67%) and also found in 3 of the 8 type 2 cases, but not in any type 3 cases, which emphasize that preventive gonadectomy is unnecessary in type 3. On the basis of our findings, we propose a new diagnostic algorithm for Frasier syndrome. Cancer Prev Res; 8(4); 271–6. ©2015 AACR.

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Section: Type 3 Frasier Syndrome (Female External Genitals With Sex Cmentioning

confidence: 99%

Gonadal Tumor in Frasier Syndrome: A Review and Classification

Ezaki

Hashimoto

Asano

et al. 2015

Cancer Prevention Research

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“…In cases with a 46 XX karyotype, the necessity of bilateral gonadectomy is less clear and rareness of the situation makes it difficult to decide the appropriate treatment [2].…”

Section: Discussionmentioning

confidence: 99%

“…Considerable size variation has been described with diameters varying from those beyond detection by naked eye up to 8 cm [3]. Esin et al, reported a case of gonadoblasotma of 0.5 cm and stated it to be the smallest in a 46 XX patient [2]. When gonadoblastoma is replaced by a malignant germ cell tumour, it may reach huge dimensions [1].…”

Section: Discussionmentioning

confidence: 99%

“…All cases were in young females, the youngest being 10 years old and the oldest 27. All had coexisting germ cell tumour, being common dysgerminoma [2]. Gonadoblastomas have been described in pregnant women too.…”

Section: Discussionmentioning

confidence: 99%

“…Most patients have 46XY karyotype or various forms of mosaicism [2]. However, rare cases with normal 46, XX karyotype have been reported.…”

Section: Introductionmentioning

confidence: 99%

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