Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience

González, Ernesto Carlos; Carvajal, Frank; Frómeta, Amarilys; Arteaga, Ana Luisa; Castells, Elisa; Espinosa, Tania; Coto, Remigio; Pérez, Pedro L.; Tejeda, Yileidis; Río, L. Del; Segura, Mary Triny; Almenares, Pedro; Robaina, René; Fernández, José Luís

doi:10.1016/j.cca.2013.02.020

Cited by 18 publications

(8 citation statements)

References 33 publications

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“…Our results indicate sex differences in mean 17-OHP concentrations as has previously been reported in Saudi Arabia, Cuba, Wisconsin and Iowa with mean levels higher in males than females [16] , [17] , [18] , [19] . In contrast, in Colorado female infants were reported to have higher 17-OHP values which was explained by their lower birth weights [20] .…”

Section: Discussionsupporting

confidence: 87%

Newborn screening for congenital adrenal hyperplasia in New York State

Pearce

DeMartino

McMahon

et al. 2016

Molecular Genetics and Metabolism Reports

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From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland). During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69%) infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection.

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Section: Discussionsupporting

confidence: 87%

Newborn screening for congenital adrenal hyperplasia in New York State

Pearce

DeMartino

McMahon

et al. 2016

Molecular Genetics and Metabolism Reports

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“…After various pilot projects [15][16][17], general NBS for classic CAH was introduced as part of the NBS in many countries worldwide [7,[18][19][20][21][22][23][24]. However, in the beginning of newborn screening, many laboratories have used an immunologic method to measure 17-OHP.…”

Section: Newborn Screening For Classic Cahmentioning

confidence: 99%

Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening

Dörr

Odenwald²,

Nennstiel-Ratzel³

2015

IJNS

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Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessively inherited disorders of cortisol biosynthesis in the adrenal cortex. More than 95% are based on a defect in the CYP21A2 gene causing 21-hydroxylase deficiency. Newborn screening (NBS) for CAH by means of 17-hydroxy-progesterone (17-OHP) determination in dried whole blood on filter paper has been introduced as part of the NBS in many countries worldwide. The goals of CAH screening are early detection of the severe, salt-wasting form, therefore prevention of adrenal crisis or death, early detection of the simple virilizing form, and prevention or shortening of the period of incorrect gender assignment in females. Methodological problems of false-positive samples, especially in pre-term infants, can be corrected by adapting the cut-off values for 17-OHP to birth weight, gestational age and age at the time of collection and by performing a second tier screening. Despite a positive voting for newborn CAH screening by the European Society for Pediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society, it is obvious that the acceptance of CAH screening varies worldwide.

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“…In 2005, the neonatal screening program was established in Cuba [ 12 , 13 ], using 17-hydroxyprogesterone (17OHP) detection in dry blood on filter paper through the neonatal UMELISA Kit [ 14 ]. Its main objectives are early diagnosis of the classic form in both genders, to prevent life-treating salt-wasting crisis and to avoid incorrect sex assignment in the newborn.…”

Section: Introductionmentioning

confidence: 99%

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Reyes¹,

Mesa²,

Cruz

et al. 2020

BMC Endocr Disord

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Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. Objectives To characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mutations in the Cuban population. Methods Cross-sectional descriptive study that included all patients diagnosed with 21OHD from January 2000 to December 2018. For the molecular analysis of the CYP21A2 gene, a protocol was used that used the polymerase chain reaction in 2 stages; in the first stage genomic DNA was amplified and 5 point mutations were detected in the second stage (Intron 2, Deletion of 8 bp, G318X, I172N and P30L). Results The 5 point mutations were identified in 31 of the 55 (56%) studied patients, 16/21 (76%) in the salt-wasting, 12/18 (67%) in the simple virilizing and 3/16 (19%) in the nonclassical form. The Intron 2 mutation was the most frequent, followed by G318X and 8 bp deletion. Compound heterozygotes were found in 10 patients, all corresponded to classic forms of the disease. Conclusions The causal CYP21A2 gene mutation was detected in 56% (72% in classic CAH), which makes the method encouraging. The most frequent mutations observed were Intron 2 and G318X. The detection of mutations offers confirmation of diagnosis, prediction of phenotype and genetic counseling.

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Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience

Cited by 18 publications

References 33 publications

Newborn screening for congenital adrenal hyperplasia in New York State

Newborn screening for congenital adrenal hyperplasia in New York State

Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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