Hiperplasia congénita da suprarrenal por deficiência de 21-hidroxilase: correlação genótipo-fenótipo

Fontes, Natacha; Pereira, Marco; Nascimento, M.; Oliveira, Eliana; Espada, Filipa; Fonseca, Marcelo Cunio Machado

doi:10.1016/s1646-3439(12)70003-2

Cited by 2 publications

(1 citation statement)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by inadequate cortisol secretion (with or without insufficient aldosterone production) and androgen excess, caused by deficiency in one of the enzymes responsible for cholesterol degradation ( 1 , 2 ). CAH is related in 90–95% of cases to mutations in the CYP21A2 gene, which modifies the activity of 21α-hydroxylase (21α-OH) ( 1 , 3 , 4 ), leading to a decrease in the conversion of progesterone to 11-deoxycorticosterone and 17-hydroxyprogesterone (17-OHP) to 11-deoxycortisol, decreasing mineralocorticoid and glucocorticoid levels and increasing progesterone and 17-OHP levels ( 5 , 6 ).…”

Section: Introductionmentioning

confidence: 99%

The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience

Castro,

Wiest,

Spritzer

et al. 2023

Endocrine Connections

View full text Add to dashboard Cite

Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21-hydroxylase deficiency accounts for 90%–95% of cases, triggering accumulation of 17-hydroxyprogesterone (17-OHP). Early diagnosis through neonatal screening allows adequate treatment and reduced mortality. The purpose of the study was to determine 17-OHP cutoffs for the diagnosis of CAH in a public newborn screening program in Southern Brazil. Retrospective, descriptive, cross-sectional study was conducted to analyze 17-OHP levels in dried blood samples collected on filter paper of 317,745 newborns screened at a public newborn screening center from May 2014 to April 2017. Neonatal 17-OHP was measured in DBS samples using a time-resolved fluoroimmunoassay (GSP® kit 3305-0010; PerkinElmer). Different cutoffs were determined and stratified by birth weight. The incidence of CAH was 1:15,887 live births in the state of Rio Grande do Sul, with 20 cases of classical CAH diagnosed during the study period. Most newborns (80.73%) were white, and the prematurity rate was 9.8% in the study population. The combination of different percentiles, 98.5th for birth weight 2001–2500 g and 99.8th for the other birth weight groups, decreased false-positive results and increased specificity compared with current reference values to identify classical CAH cases. The local 17-OHP cutoffs determined were higher than those currently used by this screening program for all birth weight groups. The calculation of reference values from local population data and the combination of percentiles proved to be a valuable tool for proper diagnosis of CAH and reduction in the number of false positives.

show abstract