Mix gonadal dysgenesis associated with ring y chromosome mosaics in a phenotypic male

J. A. Lopez-Valdes, K. Nieto, N. Najera, A. Cervantes, S. Kofman-Alfaro, G. Queipo

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Ring chromosomes are present in 1 in 25,000 human fetuses; 99% arise de novo while less than 1% of rings are inherited. This chromosomal rearrangement may arise through a cytogenetic mechanism involving breaks in chromosome arms and fusion of the proximal broken ends, leading to a loss of distal material. Most patient Y ring chromosomes are present in a 45,X/46,X,r(Y) mosaic karyotype; molecular analyses of infertile men have shown that it is not rare to find r(Y) in these patients. However, the clinical spectrum in those cases with a 45,X cell line is broad and depends on the percentage of the monosomic cell line in different tissues. Y chromosome abnormalities and 45,X mosaic karyotypes are often associated with disorders of sex determination. Here, we report a male patient with hypospadias, cryptorchidism and a mosaic karyotype containing a low proportion of 45,X monosomic cells and multiple ring Y chromosomes in peripheral blood. Clinical, surgical, and molecular evidence was sufficient for a diagnosis of mixed gonadal dysgenesis. We suggest that a detailed cytogenetic and molecular analysis should be done in all males with bilateral descended testes and infertility. © 2009 S. Karger AG, Basel.
Original languageAmerican English
Pages (from-to)177-182
Number of pages158
JournalSexual Development
DOIs
StatePublished - 1 Sep 2009
Externally publishedYes

Fingerprint

Ring Chromosomes
Gonadal Dysgenesis
Y Chromosome
Karyotype
Mixed Gonadal Dysgenesis
Physiological Sexual Dysfunctions
Chromosome Breakage
Cell Line
Hypospadias
Cryptorchidism
Cytogenetic Analysis
Cytogenetics
Chromosome Aberrations
Infertility
Testis
Fetus

Cite this

Lopez-Valdes, J. A., Nieto, K., Najera, N., Cervantes, A., Kofman-Alfaro, S., & Queipo, G. (2009). Mix gonadal dysgenesis associated with ring y chromosome mosaics in a phenotypic male. Sexual Development, 177-182. https://doi.org/10.1159/000228717
Lopez-Valdes, J. A. ; Nieto, K. ; Najera, N. ; Cervantes, A. ; Kofman-Alfaro, S. ; Queipo, G. / Mix gonadal dysgenesis associated with ring y chromosome mosaics in a phenotypic male. In: Sexual Development. 2009 ; pp. 177-182.
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Mix gonadal dysgenesis associated with ring y chromosome mosaics in a phenotypic male. / Lopez-Valdes, J. A.; Nieto, K.; Najera, N.; Cervantes, A.; Kofman-Alfaro, S.; Queipo, G.

In: Sexual Development, 01.09.2009, p. 177-182.

Research output: Contribution to journalArticle

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