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hrp0097p2-76 | Adrenals and HPA Axis | ESPE2023

The genotype-phenotype correlations in patients with 21-hydroxylase deficiency in Henan, China and the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype

Yang Haihua , Wei Haiyan , Huang Ai , Chen Yongxing , Li Yangshiyu

Purpose: Identify CYP21A2 gene variants in pediatric patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from Henan, China, and to analyze genotype-phenotype correlations. We also analyze the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype.Materials/Methods:A total of 214 21-OHD children were recruited in Henan children's hospital from 2008 to 202...

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hrp0092p3-12 | Adrenals and HPA Axis | ESPE2019

Clinical Follow-Up of a Novel NR0B1 Mutation in a Case of Adrenal Hypoplasia Congenital

yang haihua , wei haiyan , Shen Linghua , Wang Huizhen , Chen Qiong , Chen Yongxing , Liu Xiaojing

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...

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ESPE Abstracts

The genotype-phenotype correlations in patients with 21-hydroxylase deficiency in Henan, China and the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype

Clinical Follow-Up of a Novel NR0B1 Mutation in a Case of Adrenal Hypoplasia Congenital

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