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Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report
Todd D Nebesio1, Erica A Eugster
1Department of Pediatrics, Section of Pediatric Endocrinology/Diabetology, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN 46202, USA. tdnebesi@iupui.edu
Insights
Hypertension (HTN) is more common in children with 21-hydroxylase deficiency (21OHD) than previously thought. Elevated BMI did not predict HTN development in this pediatric endocrine disorder.
Area of Science:
- Pediatric Endocrinology
- Genetics and Genetic Diseases
- Cardiovascular Health
Background:
- 21-hydroxylase deficiency (21OHD) is the primary cause of congenital adrenal hyperplasia.
- The prevalence and risk factors for hypertension (HTN) in pediatric patients with 21OHD remain largely uncharacterized.
- Obesity is a known risk factor for HTN in the general pediatric population, prompting investigation into its role in 21OHD.
Purpose of the Study:
- To determine the prevalence of hypertension in children diagnosed with 21-hydroxylase deficiency.
- To investigate whether elevated body mass index (BMI) is a predictive factor for the development of hypertension in this cohort.
- To compare the observed HTN prevalence in children with 21OHD to historical pediatric data.
Main Methods:
- Retrospective chart review of pediatric patients with 21OHD treated at pediatric endocrine clinics over a 21-year period.
- Identification of patients diagnosed with 21OHD and assessment for the presence of hypertension.
- Analysis of body mass index (BMI) as a potential predictor for hypertension development.
Main Results:
- A total of 91 children with 21OHD were included in the study.
- Six patients (6.6%) were diagnosed with hypertension, with five (5.6%) having essential hypertension.
- Elevated BMI was not found to be a significant determining factor in the development of HTN among these children.
Conclusions:
- Children with 21OHD exhibit a higher prevalence of hypertension compared to historical pediatric population data.
- Elevated BMI is not a predictive factor for HTN in children with 21OHD.
- The co-occurrence of HTN with salt-wasting and mineralocorticoid deficiency in some 21OHD patients presents a paradoxical clinical picture requiring further etiological investigation.
Abstract:
The most common cause of congenital adrenal hyperplasia is 21-hydroxylase deficiency (21OHD). The prevalence of hypertension (HTN) in children with 21OHD is unknown, and HTN has not been reported to be a component of this disorder. As children with 21OHD are at risk of developing obesity, we hypothesized that an elevated body mass index (BMI) would be a predictive factor in the development of HTN. A retrospective chart review of children with 21OHD seen in our pediatric endocrine clinics for the past 21 yr was performed. Ninety-one children with 21OHD were identified (54% female). Of these children, six (6.6%) had HTN, and five (5.6%) had essential HTN, which was defined as HTN of unknown etiology. Elevated body mass index was not a determining factor in the development of HTN. Children with 21OHD do appear to have a higher prevalence of HTN when compared to historical reports of pediatric populations. The coexistence of HTN with a salt-wasting state and mineralocorticoid deficiency in some children with 21OHD is paradoxical and of unclear etiology.
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