Clinical patterns and linear growth in children with congenital adrenal hyperplasia, an 11-year experience

Abstract

Objective: An important goal in treating children with congenital adrenal hyperplasia (CAH) is to achieve a normal final adult height (FH). The aim of this study was to describe the clinical presentations and evaluate linear growth and possible factors affecting it in children with CAH. Methods: This is a retrospective study of 56 patients with CAH followed up in a tertiary center for 11 years. Patient's data including demographics, clinical, anthropometric, and laboratory information at presentation and during follow-up period were collected from medical records. Results: Fifty-six children (31 females) with CAH were seen at KAMC-Jeddah over 11-year period and 91% were 21-hydroxylase deficient. Of these, 46.4% had hyponatremia and 28.6% had hyperkalemia (21.4% had hyponatremia and hyperkalemia) at presentation. Positive family history was documented in 53.6%. Ambiguous genitalia were present in 72% of females and the majority required corrective surgery. Males had significantly decreased HtSDS versus females and females had significantly higher body mass index. The HtSDS of children who had had higher 17OHP or salt-losing crisis during treatment was significantly lower than those who had normal 17OHP and those who did not have salt-losing crisis, respectively. Conclusion: The final height outcome in our patients with CAH treated with glucocorticoids is lower than the population norm. Proper control of the disease clinically and biochemically through strict compliance to medical therapy as well as close clinical and laboratory monitoring is an important key to achieve normal final adult height in these patients. Side effects, including overweight, obesity, and hypertension are true risk associations and need timely diagnosis and early management.

Keywords

• Congenital adrenal hyperplasia
• presentation
• growth
• height SDS
• BMI
• hydrocortisone dose
• 17-hydroxy progesterone