Evidence map›Paper›PMID 28541281›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.

Fady Hannah-Shmouni, Rachel Morissette, Ninet Sinaii, Meredith Elman, Toni R Prezant, Wuyan Chen, Ann Pulver, Deborah P Merke

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 4 pooled it
3.9field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

68 citing papers in PubMed, 4 syntheses or guidelines pooled it, 128 citations in OpenAlex.

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8 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 1 country.

Fady Hannah-ShmouniThe Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Rachel MorissetteNational Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Ninet SinaiiNational Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Meredith ElmanNational Institutes of Health Clinical Center, Bethesda, Maryland, USA.
Toni R PrezantEndocrine Sciences, Laboratory Corporation of America Holdings, Calabasas, California, USA.
Wuyan ChenPreventionGenetics, Marshfield, Wisconsin, USA.
Ann PulverDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Deborah P MerkeThe Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
National Institutes of Health Clinical Center · USEunice Kennedy Shriver National Institute of Child Health and Human Development · USJohns Hopkins University · USLabCorp (United States) · US

Funding

Natural History Study of Patients with Excess AndrogenZIAHD008934 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MERKE, DEBORAH · 2013 to 2021
$238k
Intramural NIH HHS Z99 CL999999Intramural NIH HHS Z99 HD999999
6 · The paper itself

Abstract

PurposeNonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.MethodsCYP21A2 genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis.ResultsNonclassic CAH carriership was found similarly in 15% (95% confidence interval (CI): 10.4-20.7) of Ashkenazi Jews and 9.5% (95% CI: 5.8-14.4) of Caucasians (P=0.13). The proportion of Ashkenazi Jewish nonclassic CAH carriers (0.15 versus 0.309, P<0.0001) and disease affected (0.005 versus 0.037, P=0.009) was not as high as previously reported. The estimated prevalence of nonclassic CAH in Caucasians was 1 in 200 (0.5%, 95% CI: 0.01-2.8).ConclusionNonclassic CAH is a common condition, regardless of ethnicity, and should be considered with preconception and infertility counseling.

Indexed as

JewsAdrenal Hyperplasia, CongenitalGene FrequencyGenotyping TechniquesHeterozygoteHumansMutationPrevalenceSteroid 21-HydroxylaseUnited StatesWhite PeopleSteroid 21-Hydroxylase

Identifiers

PMID28541281
PMCPMC5675788
OpenAlexW2618609100

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.