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Rare disease
Is 46XX karyotype always a female?
  1. Ayesha Ahmad1,
  2. Mohammad Asim Siddiqui2,
  3. Anju Goyal2,
  4. Subhash Kumar Wangnoo2
  1. 1Aligarh Muslim University, Aligarh, Uttar Pradesh, India
  2. 2Department of Endocrinology, Indraprastha Apollo Hospital, New Delhi, India
  1. Correspondence to Dr Ayesha Ahmad, aahmad19{at}gmail.com

A19-year-old man, from a middle east country was referred by his physician to the endocrine department for bilateral gynaecomastia, low libido and sparse facial hair. There was no history of any chronic illness, mumps or traumatic injury to testis. He had clinical features suggestive of gonadotropin deficiency which was confirmed on biochemical testing. On karyotype and fluorescent in situ hybridisation analysis, he was found to have 46XX(SRY+) karyoptype.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.