先天性肾上腺皮质增生症/21羟-化酶缺陷44例分析

Analysis of 44 Cases of Congenital Adrenal Hyperplasia/21-Hydroxylase Deficiency

目的探讨先天性肾上腺皮质增生症/21羟-化酶缺陷的病因、临床特点及诊治进展。方法对2000年5月-2009年12月在本院内分泌科门诊和病房诊治的先天性肾上腺皮质增生症/21羟-化酶缺陷44例患儿的临床资料进行回顾性分析。包括患儿性别、年龄、家族史、临床特点、疾病类型、实验室检查结果及治疗方法和预后等情况。结果 44例患儿中男23例,女21例;年龄7d^14岁;5例有家族史。患儿均有肤色黑及男性化表现。女童表现为阴蒂肥大,部分肥大阴蒂似阴茎或伴尿道下裂,或无阴道开口;部分大阴唇融合肥厚似阴囊。男童则表现为阴茎粗大,甚至有勃起遗精现象。3~5岁即变声,生长加速,身材较同龄儿高大。根据患儿的症状体征轻重,除男性化表现外是否伴随低钠、高钾、酸中毒等失盐表现,分别诊断男性化伴失盐型26例、单纯男性化型17例、非典型类型1例。44例患儿中40例血17羟-孕酮及睾酮均升高,4例未查。确诊后41例患儿用氢化可的松替代治疗。9例重症失盐型加用9α-氟氢可的松替代。3例家长放弃治疗,患儿出院后死亡。激素替代治疗后,患儿肤色黑及男性化表现明显好转;钠、钾恢复正常,酸中毒纠正,生长发育基本正常。结论本病多数在新生儿期及婴儿期即发病,新生儿筛查可对本病进行早期诊断。临床上如遇新生儿或婴幼儿肤色黑,伴外生殖器改变应想到本病;同时合并失盐表现应高度怀疑;血17羟-孕酮升高、睾酮升高可明确诊断。早期、适量、长期的皮质激素替代治疗,可明显提高患儿生活质量,使其健康成长。治疗首选氢化可的松。

Objective To discuss the pathogenic,clinical characteristics,diagnosis and treatment progress of congenital adrenal hyperplasia(CAH)/21-hydroxylase deficiency.Methods The retrospective research was based on the analysis on gender,age,family history,clinical characteristics,laboratory tests,treatment and prognosis of 44 cases of CAH/21-hydroxylase deficiency in children treated in Children′s Hospital Affiliated to Capital Institute of Pediatrics from May 2000 to Dec.2009.Results Total 44 patients(23 male and 21 female) aged from 7 days to 14 years were included.Five cases of the patients had family history.All of the patients were showing hyperpigmentation and virilisation when diagnosed.The females were found to have enlarged clitoris.Some of the enlarged clitoris looked like penis,some also had inferior vigina fissure.Some patients had no vaginal orifice.Also some of the females had merged labium major with the appearance of scrotum.Meanwhile,the males were found to have enlarged penis and even to be associated with erection or spermatorrhea.The change of voice happened even at 3-5 years of age.The growth rate was sped up and therefore they were usually taller than their peers.According to the symptoms and whether being accompanied by hyponatremia,hyperkalemia and(or) acidosis,the included children were diagnosed as follows:17 simple-virilising cases,26 virilising and salt-wasting cases and a non-classical case.In addition,17-OH progesterone(17-OHP) and testosterone were increased in 40 cases and the rest of 4 cases were not tested.Forty-one cases were given corticosteroid treatment and developed normally.Nine serious salt-wasting cases were further treated with 9-α-fludrocortisone as replacement.There were 3 cases that the patients quitted the treatment and died after discharged from the hospital.After hormone replacement therapy,hyperpigmentation and virilisation were improved obviously.The children′s sodium and kalium were recovered to the normal levels along with corrected acidosis.In addition,their growth rate almost turned back to normal.Conclusions The onset of CAH is usually in neonatal and infancy period,so neonatal screening is crucial for early diagnosis.The diagnosis of CAH cases usually is not difficult if combining biochemical findings and clinical characteristics.Biochemical findings include very high 17-OHP and testosterone values.Early quantum satis and long-term corticosteroid replacement therapy may improve the quality of life for CAH patients and ensure their normal growth.It suggests to start to treat CAH children with corticosteroid first.