Incidence and clinical features of congenital adrenal hyperplasia in Great Britain

Khalid, Javaria Mona; Oerton, J; Dezateux, Carol; Hindmarsh, Peter C.; Kelnar, Christopher J. H.; Knowles, Rachel L

doi:10.1136/archdischild-2011-300234

Cited by 54 publications

(59 citation statements)

References 33 publications

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“…Several definitions of an AC have been used in previous studies [5, 15, 16, 42]. Of these, projects that have analysed aggregated datasets have identified ACs by the presence of coded diagnoses [43].…”

Section: Definition Of An Ac In Paediatricsmentioning

confidence: 99%

“…Some studies, for example, have identified acute episodes of AI-related illness as ACs (or “salt-wasting crises”) or “urgent hospitalizations” [16, 42], while others have given more detailed descriptions (Table 1). While each definition may suit the particular purposes of a study, substantial differences between definitions impede synthesis of data on the incidence of ACs in AI and its subtypes.…”

Section: Definition Of An Ac In Paediatricsmentioning

confidence: 99%

“…Research projects using other methods, including surveys or cohort studies using samples of patients [5, 16, 42, 44], usually define ACs according to preset study criteria, which may or may not be detailed in the text. Some studies, for example, have identified acute episodes of AI-related illness as ACs (or “salt-wasting crises”) or “urgent hospitalizations” [16, 42], while others have given more detailed descriptions (Table 1).…”

Section: Definition Of An Ac In Paediatricsmentioning

confidence: 99%

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Adrenal Crises in Children: Perspectives and Research Directions

et al. 2018

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Adrenal crises (AC) are life-threatening physiological disturbances that occur at a rate of 5–10/100 patient years in patients with adrenal insufficiency (AI). Despite their seriousness, there is a paucity of information on the epidemiology of AC events in the paediatric population specifically, as most investigations have focused on AI and ACs in adults. Improved surveillance of AC-related morbidity and mortality should improve the delineation of AC risk overall and among different subgroups of paediatric patients with AI. Valid incidence measures are essential for this purpose and also for the evaluation of interventions aimed at reducing adverse health outcomes from ACs. However, the absence of an agreed AC definition limits the potential benefit of research and surveillance in this area. While approaches to the treatment and prevention of ACs have much in common across the lifespan, there are important differences between children and adults with regards to the physiological, psychological, and social milieu in which these events occur. Education is considered to be an essential element of AC prevention but studies have shown that ACs occur even among well-educated patients, suggesting that new strategies may be needed. In this review, we examine the current knowledge regarding AC events in children with AI; assess the existing definitions of an AC and offer a new definition for use in research and the clinic; and suggest areas for further investigation that are aimed at reducing the incidence and health impact of ACs in the paediatric age group.

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Section: Definition Of An Ac In Paediatricsmentioning

confidence: 99%

Section: Definition Of An Ac In Paediatricsmentioning

confidence: 99%

Section: Definition Of An Ac In Paediatricsmentioning

confidence: 99%

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Adrenal Crises in Children: Perspectives and Research Directions

et al. 2018

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“…The overall prevalence at birth of the classic form of CAH in the USA is estimated at 1: 20,800 and in the UK at 1: 18,000 [51,52] . However, the distribution of the condition varies with ethnicity.…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%

“…However, the distribution of the condition varies with ethnicity. For example, in the UK 25% of all cases concerned individuals of Asian ethnic origin [52] . The highest frequencies of CAH are found in isolated populations.…”

Section: Congenital Adrenal Hyperplasiamentioning

confidence: 99%

Consanguinity and Disorders of Sex Development

Bashamboo

2014

Hum Hered

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Disorders of sex development (DSD) are defined as ‘congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births. There are indications that the prevalence of DSD is higher in endogamous communities. The incidence of ambiguous genitalia in Saudi Arabia has been estimated at 1:2,500 live births; whilst in Egypt, it has been estimated at 1:3,000 live births. This may be due in part to an increase in disorders of androgen synthesis associated with 46,XX DSD. There is clearly a need for further studies to address the frequency of DSD in communities with high levels of consanguinity. This will be challenging, as an accurate diagnosis is difficult and expensive even in specialized centres. In developing countries with high levels of consanguinity, these limitations can be compounded by cultural, social and religious factors. Overall there is an indication that consanguinity may lead to an increase in incidences of both 46,XY and 46,XX DSD, and a co-ordinated study of populations with higher incidences of consanguinity/endogamy is needed to resolve this.

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Glucocorticoid replacement regimens in the treatment of 21-hydroxylase deficiency congenital adrenal hyperplasia

Stępień

2017

Cochrane Database of Systematic Reviews

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Incidence and clinical features of congenital adrenal hyperplasia in Great Britain

Cited by 54 publications

References 33 publications

Adrenal Crises in Children: Perspectives and Research Directions

Adrenal Crises in Children: Perspectives and Research Directions

Consanguinity and Disorders of Sex Development

Glucocorticoid replacement regimens in the treatment of 21-hydroxylase deficiency congenital adrenal hyperplasia

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