Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls

Varness, Todd; Allen, David B.; Hoffman, Gary

doi:10.1016/j.jpeds.2005.04.035

Cited by 48 publications

(36 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Studies have reported that all children with severe SW-CAH are detected by analysis of 17-OHP levels on dried blood spot specimens, but up to one third of cases of SV-CAH are missed by analysis of a single specimen collected soon after birth [42, 43]. Most cases of SV-CAH can be detected on analysis of a second specimen [39].…”

Section: Resultsmentioning

confidence: 99%

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

Grosse

Vliet

2007

Horm Res Paediatr

View full text Add to dashboard Cite

Background/Aims: Congenital adrenal hyperplasia (CAH) is increasingly being included in newborn screening programs. Screening can prevent neonatal mortality in children with salt-wasting CAH, but the number of deaths prevented is not known. Cost-effectiveness analyses of screening require estimates of the probability of mortality in CAH. Methods: We reviewed the literature to identify cohort studies of children with CAH ascertained clinically in the absence of screening. We abstracted the numbers of infant deaths attributable to CAH. We also addressed sex ratios among children with clinically detected CAH and the contribution of ascertainment bias to unbalanced ratios. Results: The evidence suggests a probability of infant death due to adrenal crises in salt-wasting CAH of 4% or less in contemporary advanced economies without screening for CAH. This is lower than previous estimates, although the rate of mortality could be considerably higher in populations with limited clinical awareness or access. Conclusion: Although screening for CAH is conducted in a number of countries, further research is still needed to provide reliable estimates on the numbers of prevented deaths, along with evidence-based assessments of the potential benefits, harms, and costs of screening.

show abstract

Section: Resultsmentioning

confidence: 99%

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

Grosse

Vliet

2007

Horm Res Paediatr

View full text Add to dashboard Cite

show abstract

“…Although early diagnosis of simple virilising CAH can minimize advancement in bone age and protect final height (19,20), the 17-OHP cut-offs required to detect these milder cases lead to an unacceptably low PPV (12). Therefore, it is important that physicians remain vigilant to clinical signs of CAH, even where there has been a normal report from newborn screening (21,22). Importantly, half of all babies who met criteria for direct referral to a pediatrician were true cases of severe CAH.…”

Section: Discussionmentioning

confidence: 99%

Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994–2013

Heather

Seneviratne²,

Webster

et al. 2015

The Journal of Clinical Endocrinology &Amp; Metabolism

View full text Add to dashboard Cite

show abstract

“…In the case of 330 parents, siblings, and children to women with NCAH, 51 (15 %) were diagnosed with NCAH when screened [14]. Since the introduction of neonatal screening in many countries, classic CAH is now usually diagnosed in the neonatal period, however, occasional classic CAH patients may still be missed in the neonatal screening [25,26]. In contrast, NCAH is not usually identified in neonatal screening programs [27].…”

Section: Clinical Presentationmentioning

confidence: 99%

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

2015

View full text Add to dashboard Cite

Nonclassic congenital adrenal hyperplasia (NCAH) is one of the most frequent autosomal recessive disorders in man with a prevalence ranging from 0.1 % in Caucasians up to a few percent in certain ethnic groups. Most cases are never diagnosed due to very mild symptoms, misdiagnosing as polycystic ovary syndrome, or ignorance. In contrast to classic CAH, patients with NCAH present with mild partial cortisol insufficiency and hyperandrogenism and will survive without any treatment. Undiagnosed NCAH may result in infertility, miscarriages, oligomenorrhea, hirsutism, acne, premature pubarche, testicular adrenal rest tumors, adrenal tumors, and voice problems among other symptoms. A baseline measurement of 17-hydroxyprogesterone can be used for diagnosis, but the ACTH stimulation test with measurement of 17-hydroxyprogesterone is regarded as the golden standard. The diagnosis can be verified by CYP21A2 mutation analysis. Treatment is symptomatic and usually with glucocorticoids alone. The lowest possible glucocorticoid dose should be used. Long-term treatment with glucocorticoids will improve the symptoms but will also result in iatrogenic cortisol insufficiency and may also lead to long-term complications such as obesity, insulin resistance, hypertension, osteoporosis, and fractures. Although the complications seen in NCAH patients have been assumed to be related to the glucocorticoid treatment, some may, in fact, be associated with prolonged hyperandrogenism. Different risk factors and negative consequences should be monitored regularly in an attempt to improve the clinical outcome. More research is needed in this relatively common disorder.

show abstract

Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls

Cited by 48 publications

References 25 publications

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

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

Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994–2013

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

Contact Info

Product

Resources

About