A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature.

@article{AlSinani2015ANM,
  title={A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature.},
  author={Aisha Al-Sinani and Waad-Allah Sharef Mula-Abed and Manal K Al-Kindi and Ghariba Al-Kusaibi and Hanan Al-Azkawi and Nahid Nahavandi},
  journal={Oman medical journal},
  year={2015},
  volume={30 2},
  pages={129-34}
}
This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not been previously described in the medical literature. An Omani child was diagnosed with 17-β-HSD3 deficiency and was followed up for 11 years at the Pediatric Endocrinology Clinic, Royal Hospital, Oman. He presented at the age of six weeks with ambiguous genitalia, stretched penile and bilateral undescended testes… CONTINUE READING

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