How Many Deaths Can Be Prevented by Newborn Screening for Congenital Adrenal Hyperplasia?

Grosse, Scott D.; Vliet, Guy Van

doi:10.1159/000098400

Cited by 73 publications

(68 citation statements)

References 88 publications

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“…The unrecognized and thus untreated disease may lead to life-threatening SW crisis in the newborn period (2). Neonatal screening for classical 21-OHD, which is now routinely performed in most western countries, has significantly reduced the number of SW crises in neonates and thereby mortality rates during infancy (2,3,4,5). However, patients with classical CAH are at risk of lifethreatening adrenal crisis (AC) during their entire life (6,7).…”

Section: Introductionmentioning

confidence: 99%

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Reisch

Willige

Kohn

et al. 2012

European Journal of Endocrinology

120

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Objective: To study adrenal crisis (AC) in patients with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (21-OHD). AC was defined as an acute state of health impairment requiring i.v. glucocorticoid administration and hospital admission. Design and methods: In a cross-sectional study with detailed retrospective assessment, AC was studied following two approaches: i) questionnaire based: 122 adult 21-OHD patients (50 men, 72 women, median age 35 years, range 18-69 years) completed a disease-specific questionnaire; and ii) patient chart based: charts of 67 21-OHD patients (32 males, 35 females, median age 31 years, range 20-66 years) were analyzed from diagnosis to last follow-up with regard to frequency and causes of AC since diagnosis. Results: Evaluation of questionnaires revealed 257 ACs in 4456 patient years (py; frequency 5.8 crises/100 py), while patient charts documented 106 ACs in 2181 py (4.9 crises/100 py). The chartbased evaluation showed that gastrointestinal infections (29%) and salt-wasting crisis (18%) were the main causes of AC. In 14%, the cause remained uncertain. There was no difference in the overall frequency of AC in males and females. AC mostly occurred during childhood, with more than 70% of AC in the first 10 years of life and one-third of AC in the first year of life. Still, 20% of cases of AC were observed in adults (O18 years). Conclusion: Our data demonstrate a significant risk of AC in patients with 21-OHD over lifetime. Specific age-adapted and repeated crisis prevention training may help to reduce morbidity due to AC in 21-OHD.

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Section: Introductionmentioning

confidence: 99%

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Reisch

Willige

Kohn

et al. 2012

European Journal of Endocrinology

120

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“…(5) for metabolic disorders is not established even in teaching hospitals, this case serves as an example for mandatory screening in the second child when the first sibling is affected with CAH, which could prevent many deaths in the severe form. (6,7) …”

Section: Resultsmentioning

confidence: 99%

Congenital Adrenal Hyperplasia in Male and Female Siblings Leading to Precocious Puberty

Manjula¹,

Nirmala²,

Bharathi³

et al. 2016

jemds

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CAH in male and female siblings leading to isosexual and heterosexual precocious puberty is extremely rare and not very well reported in the paediatric age group, but it is reported among female siblings. (1) CAH is mainly seen in infants and young children with the major enzyme defect being 21-hydroxylase, the loss of which maybe complete or partial; 21-hydroxylase deficiency accounts for 90% of CAH cases, whereas other enzyme deficiencies such as 11-beta hydroxylase, 17-alpha hydroxyls and 3-beta hydroxysteroid dehydrogenase account for minority of the cases; 70% of affected infants present with the salt losing form; 30% of them present with simple virilising form. Present case study is about a pair of male and female siblings affected by simple virilising form of CAH.

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“…38 Available data from high-income countries indicate a low level of mortality associated with unscreened CAH, even taking into account the missed cases. 33,39 As a consequence, economic evaluations that use historical estimates of mortality associated with unscreened CAH will likely overestimate the cost-effectiveness of screening for CAH in such countries. 38 On the other hand, screening has benefits besides prevention of death, such as the prevention of morbidity.…”

Section: Clinical Outcomes For Individuals Identified Via Screening Vmentioning

confidence: 99%

Decision analysis, economic evaluation, and newborn screening: challenges and opportunities

Prosser

Grosse

Kemper

et al. 2012

Genetics in Medicine

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reviewThe number of conditions included in newborn screening panels has increased rapidly in the United States during the past decade, and many more conditions are under consideration for addition to state panels. The rare nature of candidate conditions for newborn screening makes their evaluation challenging. The scarcity of data on the costs of screening, follow-up, treatment, and long-term disability must be addressed to improve the evaluation process for nominated conditions. Decision analyses and economic evaluations can help inform policy decisions for newborn screening programs by providing a systematic approach to synthesizing available evidence and providing projected estimates of long-term clinical and economic outcomes when long-term data are not available. In this review, we outline the types of data required for the development of decision analysis and cost-effectiveness models for newborn screening programs and discuss the challenges faced when applying these methods in the arena of newborn screening to help inform policy decisions. 2012:14(8):703-712 Genet Med

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How Many Deaths Can Be Prevented by Newborn Screening for Congenital Adrenal Hyperplasia?

Cited by 73 publications

References 88 publications

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Congenital Adrenal Hyperplasia in Male and Female Siblings Leading to Precocious Puberty

Decision analysis, economic evaluation, and newborn screening: challenges and opportunities

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