17α-Hydroxylase Deficiency is an Underdiagnosed Disease: High Frequency of Misdiagnoses in a Large Cohort of Brazilian Patients

Author:

Fontenele Rafaela,Costa-Santos Marivânia,Kater Claudio E.

Publisher

Elsevier BV

Subject

Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism

Reference29 articles.

1. 17-Hydroxylation deficiency in man;Biglieri;J Clin Invest,1966

2. Frequency study of congenital adrenal hyperplasia in reference medical centers in Brazil (port);Brazilian CAH Multicenter Study Group;Arq Bras Endocrinol Metabol,1998

3. Disorders of steroid 17 alpha-hydroxylase deficiency;Kater;Endocrinol Metab Clin North Am,1994

4. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency;Brazilian CAH Multicenter Study Group;J Clin Endocrinol Metab,2004

5. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping;Martin;J Clin Endocrinol Metab,2003

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