gonadoblastoma and nephropathy ( 6 ). Wilm’s tumor is not typically seen in patients with FS. Very few exonic pathogenic variants have been described with FS to date ( 7 ). While the risk of Wilm’s tumor is well described, the literature regarding gonadoblastoma
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Sneha Arya, Sandeep Kumar, Anurag R Lila, Vijaya Sarathi, Saba Samad Memon, Rohit Barnabas, Hemangini Thakkar, Virendra A Patil, Nalini S Shah, and Tushar R Bandgar
Elin Kahlert, Martina Blaschke, Knut Brockmann, Clemens Freiberg, Onno E Janssen, Nikolaus Stahnke, Domenika Strik, Martin Merkel, Alexander Mann, Klaus-Peter Liesenkötter, and Heide Siggelkow
our results. In contrast to our study, other studies often used the karyotype as inclusion criterion. However, we included patients independent of the knowledge of karyotype present. Given the high risk of developing gonadoblastoma ( 39 , 40 ) and a
R Walia, M Singla, K Vaiphei, S Kumar, and A Bhansali
left intra-abdominal haemorrhagic corpus luteal cyst. Mass in inguinal region was uterine adenomyosis. His karyotype was 46,XY/47,XXY and was reared as male. In 11 patients, the disorder could not be defined. Gonadoblastoma was found in one patient
Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, Yoav Zehavi, Charles Sultan, Rita Bertalan, Anu Bashamboo, and Kenneth McElreavey
failure and high risk for Wilms tumor, and Frasier syndrome exhibiting nephrotic syndrome with a high risk for gonadoblastoma. In our case, primary testicular failure was observed in the patient at the age of 12 years, but with no renal anomalies. Case 5
