Corrall R J, Wakelin K, O'Hare J P, O'Brien I A, Ishmail A A, Honour J
Acta Endocrinol (Copenh). 1984 Dec;107(4):538-43. doi: 10.1530/acta.0.1070538.
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.