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The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype.

hormones

Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A&gt;G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea