The presentation of congenital adrenal hyperplasia in an unscreened population

Simple item page
dc.contributor.authorConlon, Tracey A.
dc.contributor.authorHawkes, Colin P.
dc.contributor.authorBrady, Jennifer J.
dc.contributor.authorMurphy, Nuala P.
dc.date.accessioned2021-11-29T10:54:19Z
dc.date.available2021-11-29T10:54:19Z
dc.date.issued2021-06-25
dc.date.updated2021-11-29T10:33:39Z
dc.description.abstractBackground: The aim of this study was to describe the incidence and spectrum of early clinical presentations of congenital adrenal hyperplasia (CAH) in an unscreened population. Methods: A national retrospective observational study was undertaken to identify all children diagnosed with CAH in the Republic of Ireland, between January 2005 and December 2019. Reporting clinicians completed anonymized clinical questionnaires. Results: There were 103 cases of CAH reported and 69 cases met the study inclusion criteria. The estimated annualized incidence of CAH in the Republic of Ireland was 1:14,754 or 0.07 cases per 1,000 live births. Forty-seven children presented clinically in the first six months of life, but only 17 of these had a confirmed diagnosis by day 10. Of these early presentations, there were 28 infants with salt-wasting, 15 females presented with virilized genitalia and four infants were detected due to a family history of CAH. Female infants presented at a median age of 0 days [IQR 0â 1] and males at 14 days [IQR 9â 21]. Seventy-eight percent of salt-wasting presentations occurred after day 10. Delays in clinical presentation, biochemical diagnosis and treatment initiation were identified. Conclusions: The incidence of CAH is higher in Ireland than in other unscreened populations. In the absence of screening, clinicians should be aware of the possibility of CAH and appropriate investigations should be urgently requested. Life-threatening salt-wasting is the most frequent clinical presentation and many cases could be detected prior to decompensation if newborn screening were introduced.en
dc.description.statusPeer revieweden
dc.description.versionPublished Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationConlon, T. A., Hawkes, C. P., Brady, J. J. and Murphy, N. P. (2021) 'The presentation of congenital adrenal hyperplasia in an unscreened population', Journal of Pediatric Endocrinology and Metabolism, 34(9), pp. 1123-1129. doi: 10.1515/jpem-2021-0123en
dc.identifier.doi10.1515/jpem-2021-0123en
dc.identifier.eissn2191-0251
dc.identifier.endpage1129en
dc.identifier.issn0334-018X
dc.identifier.issued9en
dc.identifier.journaltitleJournal of Pediatric Endocrinology and Metabolismen
dc.identifier.startpage1123en
dc.identifier.urihttps://hdl.handle.net/10468/12279
dc.identifier.volume34en
dc.language.isoenen
dc.publisherWalter de Gruyter GmbHen
dc.rights© 2021, Walter de Gruyter GmbH.en
dc.subjectCongenital adrenal hyperplasiaen
dc.subjectDisorders of sex developmenten
dc.subjectNewborn screeningen
dc.subject17-hydroxyprogesteroneen
dc.subjectSalt-wastingen
dc.titleThe presentation of congenital adrenal hyperplasia in an unscreened populationen
dc.typeArticle (peer-reviewed)en
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Colin.pdf
Size:
11.58 MB
Format:
Adobe Portable Document Format
Description:
Published Version
Download
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
2.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Medicine - Journal Articles