Abstract
ObjectiveThe prevalence of cardiovascular risk factors in congenital adrenal hyperplasia (CAH) varies widely. In the light of recent changes in treatment regimens, we have reassessed the prevalence of these risk factors in our current cohort of patients with CAH due to P450c21 deficiency.MethodsA retrospective cross-sectional study of 107 children (39 m) with CAH aged 9·2 years (range 0·4–20·5 years). Anthropometric, systolic (SBP) and diastolic (DBP) blood pressure data were collected and expressed as standard deviation scores (SDS) using UK growth reference data and the Fourth Task Force data set, respectively. Fasting blood glucose with plasma insulin and lipids was measured, and insulin resistance (HOMA IR) calculated using the homoeostasis assessment model.Results23·6% (33% men; 18% women) of the cohort were obese (BMI SDS>2). BMI SDS was significantly higher (P < 0·001) when compared with the UK population. Nineteen (20·9%) of 91 patients (20% men; 21% women) had systolic hypertension and 8 [8·8% (8·6% men; 8·9% women)] had diastolic hypertension. Mean SBP [108 (SD 13·5)] mm Hg was significantly higher than the normal population (P < 0·001), but mean DBP was not (P = 0·07). Both SBP SDS and DBP SDS were not related to BMI SDS. 9·5% of the subjects had hyperlipidaemia, but HOMA IR was more favourable compared with the normal population.ConclusionDespite a reduction in steroid doses over the last decade, a number of children with CAH are still obese and hypertensive. Whether this reflects general population trends or indicates a need to further optimize treatment regimens remains to be determined.
Highlights
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid biosynthesis most commonly caused by mutations or deletions in the CYP21A2 gene
Current treatment regimens do not match the circadian rhythm often leading to poor control of the disease despite the use of supraphysiological doses
57 (53Á3%) patients were in the age group 0–9Á9 years, 37 (34Á6%) in the age group 10–14Á9 years and 13 (12Á1%) were in the age group ≥15 years
Summary
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid biosynthesis most commonly caused by mutations or deletions in the CYP21A2 gene. This leads to a variable deficiency of the enzyme 21-hydroxylase (P450c21) leading to a range of manifestations [salt-wasting type (SW CAH), simple virilizing type (SV CAH), nonclassic type (NC CAH)]. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid biosynthesis most commonly caused by mutations or deletions in the CYP21A2 gene.. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid biosynthesis most commonly caused by mutations or deletions in the CYP21A2 gene.1 This leads to a variable deficiency of the enzyme 21-hydroxylase (P450c21) leading to a range of manifestations [salt-wasting type (SW CAH), simple virilizing type (SV CAH), nonclassic type (NC CAH)]. Reduced cortisol stimulates adrenocorticotrophic hormone secretion via negative feedback which leads to adrenal hyperplasia and increased adrenal androgen production.. Reduced cortisol stimulates adrenocorticotrophic hormone secretion via negative feedback which leads to adrenal hyperplasia and increased adrenal androgen production.2 These individuals have decreased adrenal medullary function which has been suggested to lead to obesity and insulin resistance (IR) via the leptin pathway.. Current treatment regimens do not match the circadian rhythm often leading to poor control of the disease despite the use of supraphysiological doses.
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