Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era
Journal
Journal of the Formosan Medical Association
Journal Volume
109
Journal Issue
2
Pages
148-155
Date Issued
2010
Author(s)
Abstract
Background/Purpose: Data about the clinical manifestations of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (21-OHD) are lacking in Taiwan. Therefore, this study analyzed the clinical features of 21-OHD in Taiwanese children to improve the diagnosis of this disorder, and to provide background information regarding the ongoing neonatal screening program for 21-OHD in Taiwan. Methods: Eighty children with 21-OHD, 39 with the salt-wasting (SW) type and 41 with the simple-virilizing (SV) type, were evaluated by a review of their medical records. Their clinical symptoms and signs, laboratory findings, and genetic mutations were analyzed. Results: The most frequent features in 21-OHD patients were hyperpigmentation and signs of androgen excess. Clinical manifestations related to hyponatremia such as poor feeding, poor weight gain, and dehydration were noted most frequently in patients with SW-type 21-OHD. Five patients had low serum cortisol with elevated plasma adrenocorticotropic hormone levels, and 22 patients had elevated dehydroepiandros-terone sulfate levels. All had elevated blood levels of 17-hydroxyprogesterone, androstenedione and testosterone. Hyponatremia and hyperkalemia were detected in 29 patients with SW-type 21-OHD. In terms of molecular diagnosis, mutations at IVS2-12A/C → G and gene deletion were the most frequent mutations detected in SW-type 21-OHD, while I172N and mutation at IVS2-12A/C → G were most frequent in SV type. Conclusion: Taiwanese children with 21-OHD have characteristic clinical findings such as hyperpigmentation, androgen excess, and failure to thrive. There is a good correlation between genotype and pheno-type. Laboratory tests, including serum 17-hydroxyprogesterone, androstenedione, and testosterone levels are more sensitive than serum cortisol or dehydroepiandrosterone sulfate levels for diagnosing 21-OHD in prepubertal children. ? 2010 Formosan Medical Association & Elsevier.
SDGs
Other Subjects
androgen; bicarbonate; chloride; corticotropin; hydrocortisone; hydroxyprogesterone; potassium; prasterone sulfate; sodium; testosterone; acne; adolescent; article; bone age; child; clinical feature; congenital adrenal hyperplasia; corticotropin blood level; dehydration; failure to thrive; feeding disorder; female; gene deletion; gene mutation; genital malformation; genotype; human; hydrocortisone blood level; hyperkalemia; hyperpigmentation; hyponatremia; infant; information; laboratory test; major clinical study; male; medical record review; newborn screening; phenotype; physical disease by body function; prepuberty; preschool child; salt wasting; school child; steroid 21 monooxygenase deficiency; Taiwan; tall stature; testosterone blood level; virilization; weight gain; 17-alpha-Hydroxyprogesterone; Adrenal Hyperplasia, Congenital; Androstenedione; Dehydroepiandrosterone; Female; Genotype; Humans; Hydrocortisone; Hyponatremia; Infant, Newborn; Male; Phenotype; Pigmentation Disorders; Point Mutation; Pregnancy; Steroid 21-Hydroxylase
Type
journal article