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Genotype and clinical outcomes in children with congenital adrenal hyperplasia
Author(s) -
Yoon Ju Young,
Cheon Chong Kun
Publication year - 2021
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.14478
Subject(s) - medicine , congenital adrenal hyperplasia , genotype , short stature , pediatrics , 21 hydroxylase , newborn screening , bone age , growth hormone deficiency , sanger sequencing , endocrinology , endocrine system , gastroenterology , physiology , mutation , hormone , growth hormone , genetics , gene , biology
Background The study aimed to delineate the genotypic features and endocrine / metabolic profiles in patients with 21‐hydroxylase deficiency. Methods Subjects were diagnosed with 21‐hydroxylase deficiency by direct Sanger sequencing or multiple ligation‐dependent probe amplification analysis and followed up in Pusan National University Children's Hospital from July 2008 to April 2019. The genotype, phenotype, and endocrine and metabolic profiles in children and young adults with congenital adrenal hyperplasia were investigated. Results Of a total of 33 patients, 16 (48.5%) were males. Median age was 7.4 years (range, 0.1–23.8 years). Thirty (90.9%) had salt‐wasting phenotypes. Eleven (33.3%) initially presented with abnormality in a neonatal screening test without other symptoms. Among the 17 girls, seven received genital surgery. Sixty‐five alleles from the 33 patients were evaluated. The distribution of CYP21A2 gene mutations revealed an intron 2 splice site (c.293‐13A>G or c.293‐13C>G) mutation as the most common one (22, 33.8%), followed by c.518T>A (10, 15.4%) and a large deletion / conversion (7, 10.8%), in order. One novel mutation was detected, c.332del(p.G111fs). Among the 27 patients aged >2 years, fifteen (55.6%) were obese / overweight, and ten (37.0%) needed growth hormone therapy due to short stature. Among the seven subjects aged >2 years and having high‐risk genotype, five had impaired fasting glucose, three had precocious puberty, and four used growth hormone. A greater proportion of the high current corticosteroid dose group had impaired fasting glucose than in the low‐dose group (64.3 vs 23.1%, P = 0.031). Conclusions Early monitoring of endocrine and metabolic complications from childhood might benefit patients with congenital adrenal hyperplasia.