Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads

Martine Cools, Marjan Boter, Ruud van Gurp, Hans Stoop, Pino Poddighe, Yun-Fai Chris Lau, Stenvert L S Drop, Katja P Wolffenbuttel, Leendert H J Looijenga

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)184-92
Aantal pagina's9
TijdschriftClinical endocrinology
Volume67
Nummer van het tijdschrift2
DOI's
StatusGepubliceerd - aug. 2007
Extern gepubliceerdJa

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