A Case with late onset of ambiguous genitalia
Background: Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. Case: In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Shahid Sadoughi University of Medical Sciences
2017-08-01
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| Series: | International Journal of Reproductive BioMedicine |
| Online Access: | http://www.ssu.ac.ir/ijrm/index.php/ijrm/article/view/2490 |
| Summary: | Background: Ambiguous genitalia is an uncommon situation that happens
between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis
of disorders of sexual development.
Case: In this article, we report a case of male pseudohermaphroditism with
ambiguous genitalia. The proband was a 12 yr old girl without any uterus or
ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual
differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes
were sequenced in both directions. No mutations were found in these genes
either.
Conclusion: It seems advisable to be cautious in similar cases, and revise
protocol for tracing the genes involved in the patients. |
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| ISSN: | 2476-4108 2476-3772 |