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Hormones (Athens) Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea. Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L Pediatric Endocrine Unit, Makarios Hospital, Nicosia, Department of Molecular Genetics Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. nskordis@cytanet.com.cy The clinical spectrum of 5a-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genit... Read More Source: PubMed Hormones (Athens) Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea. Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L Pediatric Endocrine Unit, Makarios Hospital, Nicosia, Department of Molecular Genetics Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. nskordis@cytanet.com.cy The clinical spectrum of 5a-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genit... Read More Source: PubMed |
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