Efficiency of Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Children Born in Mainland France Between 1996 and 2003

Coulm, Bénédicte; Coste, Joël; Tardy, Véronique; Écosse, Emmanuel; Roussey, M.; Morel, Yves; Carel, Jean‐Claude

doi:10.1001/archpediatrics.2011.774

Cited by 66 publications

(55 citation statements)

References 25 publications

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“…In our sample, PPV (1.6%) and false positive rate were similar to those of previous reports [10, 24, 28]. False positive results are a long-standing concern of CAH neonatal screening programs [7, 9–11, 23, 27, 29].…”

Section: Discussionsupporting

confidence: 89%

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

et al. 2017

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BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil.MethodsWe reviewed the screening database in search of babies with suspected CAH, that is, altered birth-weight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence.ResultsOf 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g.ConclusionThe present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds.

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Section: Discussionsupporting

confidence: 89%

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

et al. 2017

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“…Its incidence is estimated at 1:12 000 to 1:20 000 births worldwide (3-5 and http:ghr.nlm.nih.gov/condition/21-hydroxylase). So-called classic 21OHD is subclassified into salt-wasting (SW) and simple virilizing (SV) forms, depending on whether or not a clinical episode of salt-wasting dehydration occurs during the neonatal period (1)(2)(3)(4)(5)(6). Clinical manifestations of 21OHD are due to a combination of cortisol and aldosterone deficiency and accumulation of steroid precursors that are shunted into the androgen synthesis pathway (1,3,6), resulting in an androgen excess.…”

Section: Discussionmentioning

confidence: 99%

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

Bouvattier

Esterle

Renoult-Pierre

et al. 2015

The Journal of Clinical Endocrinology & Metabolism

101

113

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“…A very high random 17OHP (>20,000 ng/dL) is diagnostic of 21OHD. False-positive results, however, are common in premature and severely ill infants 34,35 . Thus, weight and gestational age adjusted cutoffs for 17OHP improve the positive predictive value of screening 36-38 .…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

Turcu

Auchus

2015

Endocrinology and Metabolism Clinics of North America

133

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Synopsis Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids, glucocorticoids and adrenal androgens occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive enzymatic defects in cortisol biosynthesis. 21-hydroxylase (21OHD) deficiency accounts for over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD.

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Efficiency of Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Children Born in Mainland France Between 1996 and 2003

Cited by 66 publications

References 25 publications

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

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