CAJ | 학술논문

先天性肾上腺皮质增生症(CAH)是一组常染色体隐性遗传病,由于肾上腺皮质激素合成酶的缺陷,皮质醇的合成部分或完全受阻使促肾上腺皮质激素(ACTH)分泌过多导致肾上腺皮质增生,同时皮质醇的前体产物过多堆积并转化为性激素.21羟化酶缺乏(21-OHD)是最常见的CAH,同时也是人类最常见的常染色体隐性遗传病之一,分为经典型和非经典型.21-OHD的治疗目标是用糖皮质激素和盐皮质激素替代,抑制ACTH的过度分泌,使肾上腺分泌的雄激素水平正常,保证正常的生长和骨骼发育,以达到或接近其遗传潜力所决定的身高.然而,由于自身疾病以及治疗的影响,CAH患儿的成年身高常较正常人群平均水平及自身遗传靶身高低下,因而成为备受关注的问题.
선천성신상선피질증생증(CAH)시일조상염색체은성유전병,유우신상선피질격소합성매적결함,피질순적합성부분혹완전수조사촉신상선피질격소(ACTH)분비과다도치신상선피질증생,동시피질순적전체산물과다퇴적병전화위성격소.21간화매결핍(21-OHD)시최상견적CAH,동시야시인류최상견적상염색체은성유전병지일,분위경전형화비경전형.21-OHD적치료목표시용당피질격소화염피질격소체대,억제ACTH적과도분비,사신상선분비적웅격소수평정상,보증정상적생장화골격발육,이체도혹접근기유전잠력소결정적신고.연이,유우자신질병이급치료적영향,CAH환인적성년신고상교정상인군평균수평급자신유전파신고저하,인이성위비수관주적문제.
Congenital adrenal hyperplasia(CAH)is a family of autosomal recessive disorders caused by the loss or severe decrense in activitv in one of the steroidogenie enzymes involved in cortisol biosynthesis.The cortisol synthetic block leads to corticotropin stimulation of the adrenal cortex.with accumulatiOn of cortisol precursors that are diverted to sex hormone biosynthesis.The most common CAH is 21-OHD due to deficiency of the enzyme 21-hydroxylase.It is distinguished in classical(C-CAH)and non-classical form(NC-CAH),and it is also one of the most eomnon autosomal recessive inherited disorders in human.The goal of therapy in CAH is to replace the missing glucocorticoids and mineralocorticoids,thereby suppressing eorticotropin concentrations and normalizing adrenal androgens, a8 well as to enable normal growth and skeletal maturation.Nonetheless.growth is a key problem in CAH because patients often fail to reach their target height,and the average heights are shorter than the general population,relating both to the underlying disease and its treatment.This paper review the literature on growth and final height outcome,considering the factors related tO diagnosis and treatment which are known to affect height outcome.Current strategies to optimize height outcome are indicated and future treatment strategies as well.