Abstract
ObjectiveTo assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques. Data sourceA literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. Data synthesisThe main results regarding the prevalence of Y-chromosome sequences in TS were: (1) about 60% of the studies were conducted by Brazilian researchers; (2) the prevalence varied from 4.6 to 60%; (3) the most frequently investigated genes were SRY, DYZ3 and TSPY; (4) seven studies used only polymerase chain reaction, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10–25%; in two of them it was zero. ConclusionsAccording to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated.
Highlights
Turner syndrome (TS) is a chromosomal disorder with an incidence of 1:2500 girls; its etiology is associated with total or partial X-chromosome monosomy and the diagnosis is made by karyotype testing.[1,2] A retrospective study of 260 patients with TS showed that the improvement in chromosomal analysis provided a change in the proportion of observed karyotype types.[3]Patients with TS exhibit have short stature and gonadal dysgenesis as main clinical signs
Women with TS who have Y chromosome material are at increased risk of developing gonadal tumors, such as gonadoblastoma and dysgerminoma
The present literature review study showed the prevalence of Y-chromosome sequences and the risk of developing gonadoblastoma in TS patients
Summary
Turner syndrome (TS) is a chromosomal disorder with an incidence of 1:2500 girls; its etiology is associated with total or partial X-chromosome monosomy and the diagnosis is made by karyotype testing.[1,2] A retrospective study of 260 patients with TS showed that the improvement in chromosomal analysis provided a change in the proportion of observed karyotype types.[3]Patients with TS exhibit have short stature and gonadal dysgenesis as main clinical signs. Prophylactic removal of gonads has been indicated.[4] Two recently published retrospective studies showed Y chromosome material frequencies in TS by classical cytogenetics of 6.6% (4/61)[5] and 7.6% (12/158).[6] In one such study, 33% of patients (4/12) had gonadoblastoma and in two patients it progressed to disgerminona or teratoma.[6] In another study with 11 patients with sexual differentiation disorders, 7 had Turner phenotype and mosaic karyotype Y in peripheral blood.[7] All patients with TS underwent gonadectomy, and histopathological findings revealed that four of them (57.1%) had gonadoblastoma, and in two cases it was associated with dysgerminoma.[7] Regarding the classical cytogenetic analysis by GTG banding, peripheral blood lymphocytes are the material of choice because it is easy to harvest this tissue, and the analysis is usually performed in 30 metaphases, which allows detection of 10% of mosaicism.[8] The advantage of molecular methods is that it require no cell culture and only a small sample for analysis and are more sensitive to detect low mosacismo, frequent in TS.[8]
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