ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2026
[Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTo explore the clinical and genetic characteristics of children with salt-wasting (SW) 21-hydroxylase deficiency (21-OHD) in Henan Province.
methodsClinical characteristics, laboratory results, and genetic findings were retrospectively reviewed for 165 children with SW 21-OHD who presented to the Department of Endocrinology and Genetic Metabolism, Children's Hospital Affiliated to Zhengzhou University, from August 2007 to November 2023. Associations between clinical characteristics and genotypes were analyzed.
resultsOf the 165 patients, 100 were biologically male and 65 female. The median age at diagnosis was 40 days in males and 28 days in females. Skin and mucosal hyperpigmentation occurred in 155 patients (93.9%), vomiting in 151 patients (91.5%), and failure to gain weight in 153 patients (92.7%). All females had clitoral hypertrophy. At presentation, 161 (97.6%) had adrenal crisis. Hyperkalemia (serum potassium >5.5 mmol/L) was present in 83.0% (137/165), and hyponatremia (serum sodium <135 mmol/L) in 93.9% (155/165). Elevated adrenocorticotropic hormone (ACTH) occurred in 96.4% (159/165), decreased cortisol in 90.3% (149/165), and elevated testosterone and 17-hydroxyprogesterone (17-OHP) in 100% (165/165). Six patients with male social gender had a 46,XX karyotype. All patients carried homozygous or compound heterozygous pathogenic variants in
conclusionsSW 21-OHD typically presents with adrenal crisis. Hyperkalemia, hyponatremia, elevated 17-OHP, testosterone, and ACTH, together with decreased cortisol, support the diagnosis; definitive confirmation requires genetic testing. Genotype does not fully predict clinical phenotype.
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