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首页> 美国卫生研究院文献>Journal of the Endocrine Society >SUN-LB11 What Is the Value of Clinical Suspicion in Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (CAH 21OHD)?
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SUN-LB11 What Is the Value of Clinical Suspicion in Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (CAH 21OHD)?

机译：Sun-LB11由于21-羟化酶缺乏（CAH 21OHD）对新生儿筛查中的新生儿筛查中临床怀疑的价值是多少？

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Aim: The aim of the study was to analyze the clinical suspicion and where patients were when they received the positive result of the neonatal screening for CAH 21OHD.Patients, material and methods: The present data derived from a retrospective analysis of a relatively large group of patients with classical CAH 21OHD patients nosed by newborn screening in Madrid, Spain. Results: During the period from 1990 to 2015 of this study 46 children were diagnosed with classical 21OHD [36 with the salt-wasting (SW) form and 10 with simple virilizing (SV)]. The median age at diagnosis for the patients with SW and SV form were 8,0 (6,0 - 9,0) and 18,0 (14,5 - 37,5) days respectively (P= 0,001). The disease had been suspected before the result of the newborn screening in only 11 (23,9%) patients but had not been suspected before the screening in 35 (76,1%) patients. In 11 of the patients with clinical suspicion of the disease, 8 of them were affected by SW form (1 male with a previous brother affection and 7 females, 2 of them by previous brother affected and 5 of them with ambiguous genitalia). In only 3 patients affected by SV the disease there was clinical suspicion before the result of the screening. One of them was a boy with a previous brother affected and 2 of them were females born with ambiguous genitalia. In 35 patients the disease had not been suspected before the result of the newborn screening. Twenty-eight of them were affected by SW form and 7 by SV form. Twenty five of the 28 patients with SW form were males and 4 were females (in 3 of them had been an incorrect sex assignment at born). Six of the 7 patients affected by SV form without clinical suspicion of the disease were males and 1 was female (with genitalia classificated by degree 2 according to Prader scale). The disease was suspected in 64.3% of women (9/14) and only 6.3% of men (2/32) (p<0.001).The most frequent cause of clinical suspicion of CAH 21OHD were the presence of ambiguous genitalia in women [n = 7 (63.6%), of which 5 were SW and 2 SV form) followed by positive family history [n = 4 (36, 4%), of which 3 were SW form and 1 SV form)].
机译：目的：该研究的目的是分析临床怀疑以及患者在接受CAH 21OHD的新生儿筛查的阳性结果的位置，材料和方法：目前的数据来自对相对大的群体的回顾性分析西班牙马德里新生儿筛查患者患有古典CAH 21OHD患者。结果：在本研究的1990年至2015年期间，46例儿童被诊断为典型21Ohd [36，用盐浪潮（SW）形式，10种具有简单的病毒（SV）]。 SW和SV形式诊断的中位年龄分别为8,0（6,0-9,0）和18,0（14,5-37,5）天（P = 0.001）。在仅11名（23,9％）患者的新生儿筛查结果之前，该疾病已怀疑，但在35例（76,1％）患者筛查之前未怀疑尚未怀疑。在11例患有疾病的患者中，其中8名受到SW形式的影响（1名男性，前一个兄弟感情，7名女性，其中2名以前的兄弟受到影响，其中5名与暧昧的生殖器有5个。只有3例受SV影响的患者，疾病在筛查结果之前存在临床怀疑。其中一人是一个男孩，其中一个受影响的兄弟，其中2个是女性出生，含糊不清的生殖器。在35例患者中，在新生儿筛查结果之前，疾病未被怀疑。其中二十八种受到SW形式的影响，7例通过SV形式的影响。 28例SW形式的28名患者中有205名是男性，4例是女性（其中3人在出生时是一个不正确的性别分配）。受SV形式影响的7例患者中有六种没有临床怀疑的疾病，1是女性（根据PRADER SCALE归类为2学位的生殖器）。该疾病在64.3％的女性（9/14）中怀疑，只有6.3％的男性（2/32）（P <0.001）。Cah 21Ohd的临床怀疑的最常见原因是女性中暧昧的生殖器存在[ n = 7（63.6％），其中5个是SW和2个SV形式），然后是阳性家庭历史[n = 4（36,4％），其中3是SW形式和1个SV形式）]。

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