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Mol. Hum. Reprod. Advance Access originally published online on March 23, 2006
Molecular Human Reproduction 2006 12(5):341-346; doi:10.1093/molehr/gal030
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

SRY-negative 46,XX male with normal genitals, complete masculinization and infertility

Singh Rajender1, Vutukuri Rajani1, Nalini J. Gupta2, Baidyanath Chakravarty2, Lalji Singh1 and Kumarasamy Thangaraj1,3

1Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, Andhra Pradesh and 2Institute of Reproductive Medicine, Salt Lake, Kolkata, West Bengal, India

3 To whom correspondence should be addressed at: Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad 500 007, Andhra Pradesh, India. E-mail: thangs{at}ccmb.res.in

XX maleness is a rare syndrome with a frequency of 1 in 20 000–25 000 males. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization. In this study, we report a case of SRY-negative XX male with complete masculinization but infertility. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilization. PCR analysis for SRY, ZFY, Amelogenin, AZFa, AZFb, AZFc genes, a pair of primers from heterochromatic region and six Y-STRs showed the absence of any Y-chromosome-derived material. Absence of SRY gene was confirmed by three independent PCRs for each of two sets of primers covering an increasing length of the gene. Sequence analysis of the coding regions of SOX9 and DAX1 genes did not reveal any mutation. Real-time PCR assay revealed normal copy number for SOX9 gene. Microsatellite analysis showed no evidence of 17q (SOX9 gene) or 22q duplication. Genotyping with X-STRs ruled out the possibility of any deletion on X chromosome. Development of the male phenotype in the absence of SRY probably resulted from the loss of function mutation in some unknown sex-determining gene, which normally inhibits the male pathway, or from a gain of function mutation in a gene downstream to SRY in male pathway.

Key words: 46,XX male/infertility/real-time PCR/sex determination/sex reversal/SRY gene


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 J. Clin. Endocrinol. Metab.Home page
A. T. Maciel-Guerra, M. P. de Mello, F. B. Coeli, M. L. Ribeiro, M. L. Miranda, A. P. Marques-de-Faria, M. T. M. Baptista, S. G. Moraes, and G. Guerra-Junior
XX Maleness and XX True Hermaphroditism in SRY-Negative Monozygotic Twins: Additional Evidence for a Common Origin
J. Clin. Endocrinol. Metab., February 1, 2008; 93(2): 339 - 343.
[Abstract] [Full Text] [PDF]


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