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5 alpha-reductase deficiency: diagnosis via abnormal plasma levels of reduced testosterone derivatives.

作者信息

Corrall R J, Wakelin K, O'Hare J P, O'Brien I A, Ishmail A A, Honour J

出版信息

Acta Endocrinol (Copenh). 1984 Dec;107(4):538-43. doi: 10.1530/acta.0.1070538.

Abstract

A case of 5 alpha-reductase deficiency is described who presented clinically as primary amenorrhoea. Plasma levels of the two isomers resulting from the 5 alpha-reduction of testosterone provide a simple method for diagnosing this condition. An intermediate abnormality was found in other family members consistent with the heterozygous state.

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