251. Ullrich-Turner syndrome: Relevance of searching for Y chromosome fragments
- Author
-
Marc Fellous, Jorge Elias Kalil Filho, Nuvarte Setian, Thais Della Manna, Dulce Rondina Guedes, Sandrine Barbaux, Anna Carla Goldberg, Carlos Alberto Moreira-Filho, Ângela Barbosa, Durval Damiani, Vaê Dichtchekenian, and Ken McElreavey
- Subjects
endocrine system ,Endocrinology, Diabetes and Metabolism ,Marker chromosome ,Turner Syndrome ,Gonadoblastoma ,Locus (genetics) ,Y chromosome ,Polymerase Chain Reaction ,Chromosomes ,Malignant transformation ,Endocrinology ,Turner syndrome ,medicine ,Humans ,DNA Primers ,Sequence Tagged Sites ,Genetics ,Base Sequence ,medicine.diagnostic_test ,urogenital system ,business.industry ,medicine.disease ,Molecular biology ,Testis determining factor ,Karyotyping ,Pediatrics, Perinatology and Child Health ,Female ,business ,Fluorescence in situ hybridization - Abstract
Forty consecutive patients with Ullrich-Turner syndrome (UTS) were followed-up and investigated for the presence of Y chromosome fragments in their genomes. We used the polymerase chain reaction (PCR) to detect SRY (sex-determining region on the Y chromosome) and the sequence-tagged sites (STS) sY57, sY59, sY85, sY94, sY124 and sY157--which correspond to regions 3C (sY57 and 59), 5C, 5G, 5P, and 6F, respectively, of the Y chromosome--searching for Y fragments that could bear the putative locus (loci) for gonadoblastoma (GBY). It has been shown that the presence of GBY greatly increases the risk of dysgenic gonads to undergo malignant transformation. Among our 40 patients, we found Y-derived sequences--including SRY and the region spanning from sY57 to sY94--in two. These two patients had a marker chromosome detected by conventional cytogenetic analysis (45,X/46,X + mar). Their gonads were excised and found to be streaks. In one of the patients, we found foci of primitive sex cords (amidst the gonadal stroma), oviducts and Wolffian remnants. Fluorescence in situ hybridization (FISH) did not show Y chromosome material in her gonad-derived fibroblasts. The other girl had hyperplastic Leydig cells in the gonadal stroma, oviducts and Wolffian remnants, with signs of epididymal differentiation. PCR assays performed on DNA extracted from paraffin-embedded gonadal tissue were negative for SRY sequences in both patients. These findings show that all UTS patients should be examined for Y chromosome material, and that positive cases should have their dysgenic gonads excised due to the high risk of malignancy.