Clinical retrospective analysis of 19 newborn cases with congenital adrenal hyperplasia

Abstract

Objective To investigate clinical features,diagnosis and treatment of congenital adrenal hyperplasia (CAH) and to improve the knowledge of 21-hydroxylase deficiency form in CAH.Methods Ninteen neonatal CAH cases admitted to the neonatal intensive care unit of Shenzhen Children's Hospital from Jan 2004 to Aug 2011 were reviewed retrospectively.According to the early clinical manifestations,the serum levels of 17-hydroxyprogesterone,testosterone,progesterone,cortisol and adrenocorticotropic hormone (ACTH),early diagnosis was drawn and they were given to the glucocorticoid therapy.The alterations of blood sodium and potassium were compared before and after glucocorticoid therapy.Results Fourteen cases of 21-hydroxylase deficiency were salt-losing form who all were complicated with adrenal crisis and five cases were simple virilizing form.All CAH newborns(19 cases) appeared dark color of skin and mucosa.Fifteen cases had resistence to milk,poor response and feeding problem.The weight of eight cases at admission were lower than birth weight.Five cases suffered from repeating vomiting and diarrhea.After glucocorticoid therapy,there were significant improvement of hyponatremia[(110.2 ±9.5) mmol/L vs (138.7 ±5.2) mmol/L] and hyperkalemia[(7.40 ± 1.59) mmol/L vs (4.40 ±0.69) mmol/L] (P both ＜0.05).Conclusion We should raise the knowledge and level of diagnosis of neonatal CAH.We should diagnose the salt-losing form of 21 hydroxylase deficiency which is highly complicated with adrenal crisis through specific clinical manifestations and necessary biochemical assay as early as possible.The glucosteroid therapy is effective. Key words: Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; Infant,newborn