Is 46XX karyotype always a female?
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+) karyotype.
Aligarh Muslim University, Aligarh, Uttar Pradesh, India. aahmad19@gmail.com
Ayesha
A
Ahmad
Mohammad Asim
MA
Siddiqui
Anju
A
Goyal
Subhash Kumar
SK
Wangnoo
D058531:46, XX Testicular Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D003937:Diagnosis, Differential; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D055815:Young Adult