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Volume 19, Issue 2 (March 2017) 19, 168–172; DOI:10.4103/1008-682X.181224

46 XX karyotype during male fertility evaluation; case series and literature review

Ahmad Majzoub1, Mohamed Arafa2, Christopher Starks3, Haitham Elbardisi4, Sami Al Said4, Edmund Sabanegh5

1 Cleveland Clinic Foundation, Department of Urology, Cleveland, Ohio, USA; Hamad Medical Corporation, Department of Urology, Qatar,
2 Cairo University, Department of Andrology, Giza, Egypt
3 Reston Hospital, Department of Urology, Virginia, USA
4 Hamad Medical Corporation, Department of Urology, Qatar
5 Cleveland Clinic Foundation, Department of Urology, Cleveland, Ohio, USA

Correspondence: Dr. A Majzoub (dr.amajzoub@gmail.com)

Date of Submission 16-Nov-2015 Date of Decision 21-Jan-2016 Date of Acceptance 10-Mar-2016 Date of Web Publication 10-Jun-2016


Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

Keywords: hypogonadism; infertility; male; sex-determining region; XX disorders of sex development

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