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Published on: September 15, 2017
The presentation of congenital adrenal hyperplasia in an unscreened population
Tracey A Conlon1,2, Colin P Hawkes3,4,5, Jennifer J Brady6
1Department of Paediatric Endocrinology, Children's Health Ireland at Temple Street, Dublin 1, Ireland.
Insights
Congenital adrenal hyperplasia (CAH) incidence is higher in Ireland than other unscreened regions. Early clinical signs, particularly salt-wasting, often present late, highlighting the need for clinician awareness and potential newborn screening.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- Early diagnosis and management are crucial for preventing life-threatening complications.
Purpose of the Study:
- To determine the incidence and spectrum of early clinical presentations of CAH in an unscreened population in the Republic of Ireland.
- To identify delays in diagnosis and treatment.
Main Methods:
- A national retrospective observational study was conducted in the Republic of Ireland from January 2005 to December 2019.
- 103 cases of CAH were reported, with 69 meeting inclusion criteria.
- Anonymized clinical questionnaires were completed by reporting clinicians.
Main Results:
- The estimated incidence of CAH was 1:14,754 live births.
- 47 infants presented clinically within six months, but only 17 were diagnosed by day 10.
- Salt-wasting crisis was the most common presentation (28 infants), often occurring after day 10, with delays noted in presentation, diagnosis, and treatment.
Conclusions:
- The incidence of CAH in Ireland is higher than in other unscreened populations.
- Clinicians must maintain a high index of suspicion for CAH in infants, especially with salt-wasting presentations.
- Introducing newborn screening could lead to earlier detection and prevent severe clinical decompensation.
Background:
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 0-1] and males at 14 days [IQR 9-21]. 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.
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