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  • Title: Late-onset 3 beta-ol-hydroxysteroid-dehydrogenase deficiency: prevalence, clinical presentation and endocrine pattern.
    Author: Carmina E, Rosato F, Caputo A, Janní A.
    Journal: Acta Eur Fertil; 1985; 16(6):427-30. PubMed ID: 3008481.
    Abstract:
    3 patients with late-onset 3 beta-HSD deficiency are described. They presented increased DHEAs/delta 4 ratio either in basal conditions or after ACTH stimulation. All patients were hirsute but only one had increased serum values of delta 4 and total testosterone. However, all patients presented increased serum levels of free testosterone. Two patients had normal menstrual cycles and in one case a secondary PCO was found.
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