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Is 46XX karyotype always a female?
Ayesha Ahmad1, Mohammad Asim Siddiqui, Anju Goyal
1Aligarh Muslim University, Aligarh, Uttar Pradesh, India. aahmad19@gmail.com
BMJ Case Reports
|July 21, 2012
Summary
A 19-year-old male presented with symptoms of gonadotropin deficiency, including gynecomastia and low libido. Genetic analysis revealed a rare 46XX karyotype with the SRY gene present, indicating a unique case of sex reversal.
Area of Science:
- Endocrinology
- Genetics
- Human Biology
Background:
- The case involves a 19-year-old male presenting with symptoms indicative of endocrine dysfunction.
- The patient exhibited bilateral gynecomastia, diminished libido, and sparse facial hair, prompting referral to an endocrine department.
Observation:
- The patient had no prior history of chronic illness, mumps, or testicular trauma.
- Clinical examination suggested gonadotropin deficiency, which was subsequently confirmed through biochemical testing.
Findings:
- Karyotype and fluorescent in situ hybridization (FISH) analysis were performed.
- The genetic analysis revealed the patient possesses a 46XX karyotype with the presence of the SRY gene (46XX, SRY+).
Implications:
- This finding represents a rare case of XX male sex reversal.
- The genetic anomaly explains the observed clinical features of hypogonadism and gynecomastia.
- Further research into the mechanisms of SRY translocation in XX individuals is warranted.
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