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Male Factor Infertility: Clues to Diagnose 46, XX Male

  • Partha P. ChakrabortyEmail author
  • Rana Bhattacharjee
  • Ajitesh Roy
  • Satinath Mukhopadhyay
  • Subhankar Chowdhury
Case Report
  • 83 Downloads

Introduction

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.

Case Report

Case 1

A couple, married for 2 years, presented with primary infertility. The 26-year-old husband was found to have azoospermia. His height was 154.7 cm with upper segment (US)/lower segment (LS) ratio of 0.82. His arm span was 155.4 cm. He was well virilized (Tanner stage 4 pubic hair) with normal stretched penile length (SPL) (Fig.  1a). However, both the testes were 3 ml in volume and were...

Notes

Funding

The study was not funded by anybody. The patients themselves bore the cost of suggested investigations.

Authors contribution

PPC, RB, SM and SC were involved in evaluation and management of first four patients. AR was involved in evaluation and management of case 5. PPC and RB were involved in the literature search and writing of the manuscript. SM and SC checked and finalized the manuscript.

Compliance with Ethical Standards

Conflicts of interest

Disclosure of potential conflicts of interest if any: None. All the authors (PPC, RB, AR, SM and SC) declare that they have no conflict of interest.

Ethical Approval

This article contains case series only. The patients were evaluated according to their presentations. They were not included in any study protocol by any of the authors. The Institute approves publication of case series.

Informed Consent

Informed consents were obtained from all individual patients.

References

  1. 1.
    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.CrossRefGoogle Scholar
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    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.CrossRefGoogle Scholar
  3. 3.
    de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981;58:105–16.CrossRefGoogle Scholar
  4. 4.
    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.PubMedGoogle Scholar

Copyright information

© Federation of Obstetric & Gynecological Societies of India 2015

Authors and Affiliations

  • Partha P. Chakraborty
    • 1
    Email author
  • Rana Bhattacharjee
    • 2
  • Ajitesh Roy
    • 3
  • Satinath Mukhopadhyay
    • 2
  • Subhankar Chowdhury
    • 2
  1. 1.Department of MedicineMidnapore Medical College & HospitalPaschim MedinipurIndia
  2. 2.Department of Endocrinology & MetabolismIPGME&R/SSKM HospitalKolkataIndia
  3. 3.Ruby General HospitalKolkataIndia

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