PDF(Pubmed)
Abstract：
OBJECTIVE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.
METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.
RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.
CONCLUSIONS: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.
METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.
RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.
CONCLUSIONS: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.
摘要：
目的：17α羟化酶/17,20裂解酶缺乏症（17OHD）是一种罕见的先天性肾上腺增生，通常在青春期后期诊断为青春期延迟和高血压的症状。本研究旨在确定17OHD病例的临床和实验室特征，并收集疾病管理数据。
方法：使用CEDD-NET网络系统对来自全国97例病例的数据进行分析。诊断,后续调查结果，并对患者的最终身高进行了评估。
结果：入院时的平均年龄为13.54±4.71岁，青春期延迟是最常见的主诉。报告时检测到65％的高血压；低钾血症占34％。遗传分析显示外显子1-6纯合缺失是最常见的突变，发现42例。氢化可的松置换普遍；66例进行青春期置换。57例（90％）患者需要抗高血压治疗。37例达到最终高度，46，XX的平均SD为0.015，46，XY的平均SD为-1.43。尽管进行了雌二醇治疗，但在某些情况下，Thelarche和pubarche并未正常发育。
结论：本研究是文献中记录的17-羟化酶缺乏症（17OHD）儿科病例中最大的队列。高血压和低钾血症可作为早期诊断的指导指标。最终高度通常被认为是正常的。基因型和表型之间的关系仍然难以捉摸。外显子1-6缺失的初始遗传测试可能是我们地区的MLPA。
方法：使用CEDD-NET网络系统对来自全国97例病例的数据进行分析。诊断,后续调查结果，并对患者的最终身高进行了评估。
结果：入院时的平均年龄为13.54±4.71岁，青春期延迟是最常见的主诉。报告时检测到65％的高血压；低钾血症占34％。遗传分析显示外显子1-6纯合缺失是最常见的突变，发现42例。氢化可的松置换普遍；66例进行青春期置换。57例（90％）患者需要抗高血压治疗。37例达到最终高度，46，XX的平均SD为0.015，46，XY的平均SD为-1.43。尽管进行了雌二醇治疗，但在某些情况下，Thelarche和pubarche并未正常发育。
结论：本研究是文献中记录的17-羟化酶缺乏症（17OHD）儿科病例中最大的队列。高血压和低钾血症可作为早期诊断的指导指标。最终高度通常被认为是正常的。基因型和表型之间的关系仍然难以捉摸。外显子1-6缺失的初始遗传测试可能是我们地区的MLPA。
