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Impact of the Y‐containing cell line on histological differentiation patterns in dysgenetic gonads
Author(s) -
Cools Martine,
Boter Marjan,
Van Gurp Ruud,
Stoop Hans,
Poddighe Pino,
Lau YunFai Chris,
Drop Stenvert L. S.,
Wolffenbuttel Katja P.,
Looijenga Leendert H. J.
Publication year - 2007
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.2007.02859.x
Subject(s) - gonadoblastoma , karyotype , gonadal dysgenesis , biology , gonad , turner syndrome , y chromosome , endocrinology , development of the gonads , x chromosome , medicine , fluorescence in situ hybridization , sexual differentiation , chromosome , genetics , gene
Summary Objective Gonadal karyotyping is considered a tool for increasing our knowledge of disturbed gonadal development in patients with gonadal dysgenesis and for estimating more accurately the risk for gonadoblastoma formation. The objective was to gain insight into the role of Y chromosome distribution in the histological heterogeneity of gonads of patients with gonadal dysgenesis. Design Investigation of the possible relationship between peripheral blood karyotype, gonadal karyotype, morphological differentiation patterns of dysgenetic gonads and tumour formation. Patients In total 22 gonadal samples from 19 patients with gonadal dysgenesis (45,X/46,XY and variants n = 14; 46,XY: n = 3; 46,XX: n = 2) were examined. Measurements Morphological examination and immunohistochemical staining for testis specific protein, Y encoded (TSPY) and fluorescent and nonfluorescent in situ hybridization directly on gonadal tissue. Results No correlation was observed between peripheral blood karyotype and gonadal karyotype or between gonadal karyotype and the corresponding differentiation pattern. A Y‐containing cell line in Sertoli cells was encountered no more frequently than were other cell types. Conclusions The distribution of the Y‐containing cell line in peripheral blood is not a suitable indicator for predicting the histological differentiation pattern found in the gonads of patients with gonadal dysgenesis. The analysis of Y‐containing cell lines in the gonads of such patients could be informative with regard to the specific characteristics of gonadal development in humans as compared to chimeric mouse models. Moreover, it is essential to understand the mechanisms underlying disturbed gonadogenesis in these patients. As the gonadal karyotype is not related to the encountered gonadal differentiation pattern, it does not allow prediction of the risk for gonadoblastoma formation.