Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis

Dumić, Miroslav; Jukić, Silvana; Batinica, Stipe; Ille, Jasenka; Filipović‐Grčić, Boris

doi:10.1007/bf03348838

Cited by 24 publications

(17 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Therefore, it is usual practice to have prophylactic gonadectomies in UTS patients with detectable Y-chromatin, because the risk of gonadoblastoma may be as high as 30% [Verp and Simpson, 1987]. Gonadoblastoma usually develops in the second decade of life, but earlier occurrence has been reported in a striking example of bilateral gonadoblastoma in a 9-month-old infant [Dumic et al, 1993]. Therefore, some have recommended removal of the gonads shortly after the presence of Y-chromatin is demonstrated [Verp and Simpson, 1987].…”

Section: Discussionmentioning

confidence: 97%

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

et al. 2000

View full text Add to dashboard Cite

The presence of Y chromatin in individuals with Ullrich-Turner syndrome (UTS) confers a risk for gonadoblastoma. In mosaic cases, little is known about Y chromatin distribution in gonads. Fluorescence in situ hybridization (FISH) is a direct approach to assess the extent of Y chromatin mosaicism in gonads. Gonadal tissue from four patients with mosaic karyotypes were analyzed by routine cytogenetics and FISH with X and Y centromere probes. Y chromatin was present in gonads in varying percentages in these patients. The distribution of Y chromatin in gonads of UTS individuals did not completely correlate with that found in blood lymphocytes. The finding of Y chromatin in the blood samples from these patients prompted the development of a screening strategy in our cytogenetics laboratory to detect low-level Y chromatin mosaicism in patients with UTS.

show abstract

Section: Discussionmentioning

confidence: 97%

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

et al. 2000

View full text Add to dashboard Cite

show abstract

“…GB commonly occurs in the second decade of life but can develop in children with gonadal dysgenesis as early as age of 9 mo (24). In our study the youngest patient was 2 yr and 11 mo old, and two other patients were diagnosed with GB associated with dysgerminoma as teenagers.…”

Section: Discussionmentioning

confidence: 99%

Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material

Matsumoto

Shimada

Ida

2014

Clin Pediatr Endocrinol

View full text Add to dashboard Cite

The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our experience with prophylactic gonadectomy in those patients and evaluate their risk of gonadal tumors. We reviewed the charts of 11 female patients who had bilateral gonadectomy (by laparoscopically in 9 patients, by laparotomy in 2 patients) between 1991 and 2012 at our hospital. Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. Age at surgery and follow-up ranged from 2 to 23 (mean 11) and 0.5 to 20 (mean 8) yr, respectively. Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 with TS, the youngest of which was 2 yr old, one with Swyer syndrome and one with Frasier syndrome. A gonadoblastoma was detected in 8 gonads, and an association of dysgerminoma with gonadoblastoma was detected in 2 gonads. Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients. In our series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high. Considering the early occurrence of gonadoblastoma and its high potential for malignant transformation, early prophylactic gonadectomy is strongly recommended.

show abstract

“…22 Data in the literature revealed 10 cases where the tumor developed during childhood, five of them had a 45,X/ 46,XY mixed gonadal dysgenesis and the diagnosis was performed only in one case at 9 months old while the rest were diagnosed around 10 years of age. [10][11][12][13][14][15] The other five patients had a 46,XY gonadal dysgenesis, one of them, a 3-year-old girl had campomelic dysplasia, sex reversal and bilateral gonadoblastoma while in the other four a WT1 mutation was observed. 16,[23][24][25][26] The presence of a suppress tumor mutation in these individuals could participate in early tumor development.…”

Section: Discussionmentioning

confidence: 99%

“…9 Around 94% of cases are diagnosed during the first three decades; however, the age at diagnosis is variable ranging from birth up to the fourth decade of life. Diagnosis in infants is rare; [10][11][12] however, several cases were diagnosed around 10 year of age. [13][14][15][16][17] The presence of gonadoblastoma in young patients and the potential risk for malignant transformation is the main reason for early diagnosis and treatment in some cases of intersex patients.…”

mentioning

confidence: 99%

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

et al. 2005

View full text Add to dashboard Cite

Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/ seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.

show abstract

Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis

Cited by 24 publications

References 5 publications

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material

Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

Contact Info

Product

Resources

About