ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone CYP21A2 molecular analysis. Subjects and methods: Retrospectively, we have analyzed the clinical records of […]

Objective Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. Subjects and methods Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child’s age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, […]

Designing a Health Care Service Waste Management Plan, according to the RDC 306 rules, is a responsibility of all those who produce such waste. Since radioimmunoassay (RIA) is one of the most employed techniques, we studied the impact of replacing this technique by liquid chromatography (HPLC) with regard to the reduction of the radioactive residues routinely produced by the Unifesp steroid laboratory. The residues produced by the determination of serum cortisol and 17 ?-hydroxyprogesterone were classified, and those belonging to […]

Diagnosis of the nonclassical form of 21-hydroxylase deficiency (NC-21OH) is based on clinical hyperandrogenism and basal 17-hydroxyprogesterone (17OHP) levels >5ng/mL or >10ng/mL after ACTH-stimulation. We present two children with precocious pubarche and a hormonal diagnosis of NC-21OH, whose molecular study of the CYP21A2 gene confirmed the diagnosis in just one case. After that, we re-evaluated the diagnosis of 58 patients with ACTH-stimulated 17OHP levels >10ng/mL with molecular studies of CYP21A2 gene. Only 37 (67%) of these patients had mutations detected […]

Screening for non-classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is performed with baseline 17-hydroxyprogesterone (17OHPb) and confirmed with the ACTH test. Because the cutoff level of 17OHPb that prompts an ACTH testing is still a matter of discussion, we evaluated the levels of 17OHPb in diagnosing CAH caused by 21OHD. An ACTH (0.25 mg IV) test was performed in 87 hyperandrogenic women, 24.8±0.8 years old. 17OHP levels greater than 1,500 ng/dL, 60min after administration of ACTH were […]