Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,Xy Mosaicism

Autor: Jw Oosterhuis, H. Stoop, Piet Hoebeke, B. Deleeuw, Martine Cools, Remko Hersmus, Lhj Looijenga, Sls Drop, Katja P. Wolffenbuttel
Rok vydání: 2010
Předmět:
Zdroj: Journal of Pediatric Urology. 6:S88
ISSN: 1477-5131
DOI: 10.1016/j.jpurol.2010.02.170
Popis: Purpose The decision to perform gonadectomy in patients with 45,X/46,XY mosaicism is often difficult: the increased gonadal tumor risk has to be balanced against the functional capacity of the gonad and the psychological burden of gonadectomy. Material and Methods We combined detailed pathological investigations with corresponding clinical data of 26 45,X/46,XY individuals (43 gonadal specimen), divided into 3 groups according to the external masculinisation score (EMS). Differentiation of gonadal tissue was studied by morphology, and staining for AMH, FOXL2 and SOX9. Tumor risk was assessed based on the differentiation of the gonad, and the presence of malignant or premalignant (immunohistochemical staining for OCT3/4 and/or stem cell factor (SCF)) changes. In males with at least one gonad in situ, results of an HCG test or data on pubertal progression were recorded. Results Testis tubules are SOX9 positive and FOXL2 negative. In undifferentiated gonadal tissue (UGT), co-presence of SOX9 (Sertoli cell differentiation) or FOXL2 (granulosa cell differentiation) is common, with a predominance of FOXL2. No SOX9 or FOXL2 is found in streak gonads. In individuals with atypical genitalia and EMS≥7, indices for (pre)malignancy were found in 1/13 gonads (7.6%), whereas in individuals with atypical genitalia and EMS Conclusions The morphology of UGT is associated with the co-presence of SOX9 and FOXL2 positive cells, normally leading to testicular or ovarian differentiation respectively. In 45,X/46,XY individuals, the clinical phenotype, as evaluated by the EMS, reflects the degree of gonadal “testicularisation” and
Databáze: OpenAIRE
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