A Case with late onset of ambiguous genitalia
Ambiguous genitalia is an uncommon situation that happensbetween 1 and 2 per every 1000 live births and falls under the umbrella diagnosisof disorders of sexual development.
Case:
In this article, we report a case of male pseudohermaphroditism withambiguous genitalia. The proband was a 12 yr old girl without any uterus orovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexualdifferentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY geneswere sequenced in both directions. No mutations were found in these geneseither.
It seems advisable to be cautious in similar cases, and reviseprotocol for tracing the genes involved in the patients
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