Details

Autor(en) / Beteiligte

• Bhuiyan, Julia R.
• Brown, G. Thomas
• Dowlut-McElroy, Tazim
• Maher, Jacqueline
• Gomez-Lobo, Veronica

Titel

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

Ist Teil von

• Journal of pediatric & adolescent gynecology, 2023-04, Vol.36 (2), p.198-198

Ort / Verlag

Elsevier Inc

Erscheinungsjahr

2023

Link zum Volltext

Quelle

Elsevier ScienceDirect Journals Complete

Beschreibungen/Notizen

• 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 and correlate histologic findings with markers of ovarian reserve. This study was approved by the Institutional Review Board. 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 of patients using artificial intelligence (AI) developed in conjunction with the NCI AI core and confirmed via human counting. Data was collected from multiple slides for each patient to calculate the mean number of follicles. Chart review was used to identify associations between histological and clinical data and evaluate presence of gonadal malignancy and seminiferous tubules. Seven TS with Y patients were included in the analysis, all of which had undergone bilateral gonadectomy with salpingectomy. The demographics, clinical outcomes, and follicular number and classification of the patients are included in Table 1. One patient had menarche prior to gonadectomy, while most of the other patients are of prepubertal age. Five of the 7 patients had no follicles. Of the ovarian follicles found in the other 2 patients, nearly all had abnormal morphological features in both oocytes and granulosa cells. Gonadoblastoma or any malignancy was not present in any of the slides of individuals with TS and Y-chromosome material. Seminiferous tubules were reported in the pathology report of 1 patient and in the histological findings of 2 patients. Most of the patients did not have any follicles, indicating that TS with Y contributes to poor ovarian reserve. Furthermore, all of the follicles that were present had abnormal morphological features, including abnormal oocytes and granulosa cells. At the same time, gonadal malignancy was not found in any of the patients. There may be a presence of seminiferous tubules or other testicular tissue in patients with TS with Y. Future research is needed, likely involving prospective data collection from multiple institutions. Supporting Figures or Tables https://www.abstractscorecard.com/uploads/Tasks/upload/19245/RGXGDRUQ-1379909-1-ANY.docx