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The Journal of Obstetrics and Gynecology of India
Published in: The Journal of Obstetrics and Gynecology of India 2/2016

01-12-2016 | Case Report

Male Factor Infertility: Clues to Diagnose 46, XX Male

Authors: Partha P. Chakraborty, MBBS MD DM DNB, Rana Bhattacharjee, MBBS MD DM MRCP, Ajitesh Roy, MBBS MD DM, Satinath Mukhopadhyay, MBBS MD DM, Subhankar Chowdhury, MBBS DTM&H MD DM MRCP

Published in: The Journal of Obstetrics and Gynecology of India | Special Issue 2/2016

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Excerpt

The XX male syndrome, first reported in 1964, is an unusual cause of male factor infertility. Its relative rarity coupled with the presence of unambiguous male external genitalia in most patients with this syndrome makes clinicians overlook the condition in the differential diagnosis of primary infertility. We report five genetically proven XX males, who all presented with azoospermia and primary infertility (four out of five), and discuss their phenotypic characteristics and hormonal profiles to make treating physicians aware of this diagnosis in appropriate settings. …
Literature
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Vorona E, Zitzmann M, Gromoll J, et al. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients. J Clin Endocrinol Metab. 2007;92:3458–65.CrossRef
2.
Gao X, Chen G, Huang J, et al. Clinical, cytogenetic, and molecular analysis with 46, XX male sex reversal syndrome: case reports. J Assist Reprod Genet. 2013;30(3):431–5.CrossRef
3.
de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981;58:105–16.CrossRef
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Hado HS, Helmy SW, Klemm K, et al. XX male: a rare cause of short stature, infertility, gynaecomastia and carcinoma of the breast. Int J Clin Pract. 2003;57(9):844–5.PubMed
Metadata
Title
Male Factor Infertility: Clues to Diagnose 46, XX Male
Authors
Partha P. Chakraborty, MBBS MD DM DNB
Rana Bhattacharjee, MBBS MD DM MRCP
Ajitesh Roy, MBBS MD DM
Satinath Mukhopadhyay, MBBS MD DM
Subhankar Chowdhury, MBBS DTM&H MD DM MRCP
Publication date
01-12-2016
Publisher
Springer India
Published in
The Journal of Obstetrics and Gynecology of India / Issue Special Issue 2/2016
Print ISSN: 0971-9202
Electronic ISSN: 0975-6434
DOI
https://doi.org/10.1007/s13224-015-0791-9

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