ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2021
Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele.
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2021. 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
21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. Phenotypically, 21-OHD can be divided into classical and non-classical (NC) forms. The genotype-phenotype correlation in 21-OHD is well established. The P30L mutation is usually associated with the NC form and common among Japanese patients with the NC form of 21-OHD. Herein, we report the clinical course of four patients with 21-OHD with the P30L mutation on one allele and loss-of-function variants on the other allele. Contrary to the findings of most previous studies, all patients were treated with hydrocortisone, and two required fludrocortisone therapy in early childhood. The management strategies for patients with 21-OHD, especially those with the P30L mutation on at least one allele, should be determined based on the clinical phenotype predicted by the
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