Open Access Highly Accessed Research article

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

Ana Paula dos Santos12, Juliana Gabriel Ribeiro Andrade3, Cristiane Santos Cruz Piveta2, Juliana de Paulo1, Gil Guerra-Junior34, Maricilda Palandi de Mello2 and Andréa Trevas Maciel-Guerra13*

Author Affiliations

1 Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Tessália Vieira de Camargo Street, 126 - Zip Code, 13083-887 Campinas, SP, Brazil

2 Center of Molecular Biology and Genetic Engineering, University of Campinas – UNICAMP, Campinas, SP, Brazil

3 Interdisciplinary Group to Study of Sex Determination and Differentiation (GIEDDS), Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil

4 Department of Pediatrics, Faculty of Medical Sciences, University of Campinas – UNICAMP, Campinas, SP, Brazil

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BMC Medical Genetics 2013, 14:115  doi:10.1186/1471-2350-14-115

Published: 5 November 2013



Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/or structural abnormalities of the Y chromosome) is generally found in MGD. Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia. During the last few years, evidences of a linkage between Y microdeletions and 45,X mosaicism have been reported. There are also indications that the instability caused by such deletions might be more significant in germ cells. The aim of this work was to investigate the presence of Y chromosome microdeletions in individuals with PGD and in those with 45,X/46,XY mosaicism or its variants and variable phenotypes.


Our sample comprised 13 individuals with PGD and 15 with mosaicism, most of them with a MGD phenotype (n = 11). Thirty-six sequence tagged sites (STS) spanning the male specific region (MSY) on the Y chromosome (Yp, centromere and Yq) were analyzed by multiplex PCR and some individual reactions.


All STS showed positive amplifications in the PGD group. Conversely, in the group with mosaicism, six individuals with MGD had been identified with Yq microdeletions, two of them without structural abnormalities of the Y chromosome by routine cytogenetic analysis. The deleted STSs were located within AZFb and AZFc (Azoospermia Factor) regions, which harbor several genes responsible for spermatogenesis.


Absence of deletions in individuals with PGD does not confirm the hypothesis that instability of the Y chromosome in the gonads could be one of the causes of such condition. However, deletions identified in the second group indicate that mosaicism may be associated with Y chromosome abnormalities detectable only at the molecular level. If patients with mosaicism and Y microdeletions reared as males decide to undergo in vitro fertilization, Y chromosomes which tend to be unstable during cell division may be transmitted to offspring.

Partial gonadal dysgenesis; Genital ambiguity; Mosaicism; Microdeletions; Chromosome Y