P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed by CYP17 Genotyping

P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital adrenal hyperplasia characterized by hypertension, hypokalemia, and impaired production of sex hormones. We performed a clinical, hormonal, and molecular study of 11 patients from 6 Brazilian families with the combi...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2003-12, Vol.88 (12), p.5739-5746
Hauptverfasser:	Martin, Regina M., Lin, Chin J., Costa, Elaine M. F., de Oliveira, Maria Leocadia, Carrilho, Alexandre, Villar, Heloisa, Longui, Carlos A., Mendonca, Berenice B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adrenal Hyperplasia, Congenital - blood Adrenal Hyperplasia, Congenital - complications Adrenal Hyperplasia, Congenital - diagnosis Adrenal Hyperplasia, Congenital - genetics Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Adult Base Sequence - genetics Biological and medical sciences Brazil Case-Control Studies Child Child, Preschool Diagnosis, Differential Disorders of Sex Development - etiology Endocrinopathies Female Genotype Heterozygote Homozygote Hormones - blood Humans Male Medical sciences Mutation, Missense Non tumoral diseases. Target tissue resistance. Benign neoplasms Progesterone - blood Steroid 17-alpha-Hydroxylase - genetics Tropical medicine
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