4. Histologic Analysis of Gonadal Tissue in Patients with Turner Syndrome and Y-Chromosome Material.

Turner syndrome (TS) is caused by the absence of part of or a whole X-chromosome and occurs in 1 in 2500 live female births. The recommendation to perform prophylactic gonadectomy at diagnosis has been called into question based on reports of spontaneous puberty and pregnancy in some individuals with TS and Y. Because the decision to forego early prophylactic gonadectomy to preserve fertility must be balanced with avoidance of gonadal malignancy, our study sought to investigate gonadal histology from individuals who underwent prophylactic gonadectomy due to a diagnosis of TS with Y material. Ovarian tissue was obtained during prophylactic bilateral gonadectomy of patients with TS and Y at a pediatric tertiary care center. Histological data (i.e., follicle number, morphology) was collected from H&E slides and immunohistochemically stained slides of patients. Chart review was used to identify associations between histological and clinical data and evaluate presence of germ cell neoplasia in situ (GCNIS), gonadal malignancy, and seminiferous tubules. This study was approved by the Institutional Review Board. Twelve TS with Y patients were included in the analysis, all of which had undergone bilateral gonadectomy with salpingectomy. The demographics, clinical outcomes, and gonadal histological characteristics of the patients are included in Table 1. One patient had menarche prior to gonadectomy. None of the patients had follicles or seminiferous tubules. GCNIS was present in 5 patients, and these were not identified in the pathology reports. There was no evidence of malignancy in the pathology reports or the histological examination of the patients. Our study revealed the absence of germ cells, indicating a low likelihood of fertility in individuals with Turner syndrome and Y-chromosome material. Furthermore, the presence of GCNIS, a precursor to cancer, suggests a non-negligible risk. Our findings revealed no instances of malignancy, which suggests that prophylactic gonadectomy need not be immediately administered upon diagnosis, although delaying the procedure appears to offer limited, if any, fertility benefits. While isolated case reports have suggested the potential for fertility in some instances, such occurrences remain rare. Our limited sample size emphasizes the need for further research to clarify the optimal timing and criteria for prophylactic gonadectomy in these cases. [ABSTRACT FROM AUTHOR]