Article
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene.
European journal of endocrinology - 1 Jan 2001
Wasniewska M, De Luca F, Valenzise M, Lombardo F, De Luca F
Abstract excerpt
This case report concerns a girl born from non-consanguineous parents and hospitalized in another hospital at the age of 14 days because of a severe salt-losing syndrome (Na=125, K=8.6 mEq/l). In spite of normal genitalia, diagnosis of 21-hydroxylase deficiency was assessed on the basis of a slightly increased 17-OH-progesterone serum level (6.4 ng/ml). The onset of both hydrocortisone and...
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