Background:Pervasive developmental disorders(PDDs)can be very difficult to diagnose in children and to communicate such a diagnosis to their parents.Families of children with PDD learn of their child's diagnosis l...Background:Pervasive developmental disorders(PDDs)can be very difficult to diagnose in children and to communicate such a diagnosis to their parents.Families of children with PDD learn of their child's diagnosis long after the first symptoms are noted in the child's behavior.Methods:An area-based survey was conducted to assess all social and health care providers taking care of patients with PDDs in the Veneto Region(North-East Italy).Results:Only 28%of health care providers arrived at a definite diagnosis when the child was in his/her first year of age,51%when the child was 2-3 years old and 21%from age of 4 years and up.On average,the latency between the time of the diagnosis and its communication to the family was 6.9 months.However,a number of families did not ever have a diagnosis communicated to them.Sometimes,68%of the providers did not communicate a PDDs diagnosis to patient's families,and 4%of them quite commonly.Conclusion:The well-known delay in making a diagnosis of PDDs has two distinct components:one relating to the difficulty of confirming a diagnosis of PDDs,the other,hitherto unrecognized,relating to the family being notified.展开更多
目的探讨人绒毛膜促性腺激素(human chorionic gonadotrophin,hCG)激发试验在诊断不同分型性发育异常(disorder of sexual development,DSD)患儿中的价值。方法回顾性分析132例DSD患儿,按染色体核型分为46,XX组(n=10)、46,XY组(n=87)、...目的探讨人绒毛膜促性腺激素(human chorionic gonadotrophin,hCG)激发试验在诊断不同分型性发育异常(disorder of sexual development,DSD)患儿中的价值。方法回顾性分析132例DSD患儿,按染色体核型分为46,XX组(n=10)、46,XY组(n=87)、性染色体异常组(n=35),比较各组患儿hCG激发试验前后的性激素水平,分析形态学上是否存在睾丸组织对hCG激发试验结果的影响。结果3组患儿激发试验后睾酮(testosterone,T)增加倍数比较差异无统计学意义(P>0.05)。46,XY组中,5α-还原酶2缺乏症患儿激发试验后的T与双氢睾酮(dihydrotestosterone,DHT)比值高于其他46,XY DSD患儿(P<0.05)。形态学上,有睾丸组织的DSD患儿激发试验后T增加倍数高于无睾丸组织患儿(P<0.05)。结论hCG激发试验对于评估不同类型的DSD患儿的睾丸间质细胞存在和功能均具有重要价值,对于性腺性质不明确的DSD患儿,均建议行hCG激发试验。展开更多
目的探讨性发育异常疾病(disorders of sex development,DSD)患儿的临床表型、遗传特点和病理学特征。方法回顾性分析2008年8月—2022年12月河北省儿童医院和唐山市妇幼保健院收治的165例DSD住院患儿的流行病学、临床表型、染色体核型...目的探讨性发育异常疾病(disorders of sex development,DSD)患儿的临床表型、遗传特点和病理学特征。方法回顾性分析2008年8月—2022年12月河北省儿童医院和唐山市妇幼保健院收治的165例DSD住院患儿的流行病学、临床表型、染色体核型、性腺病理及基因检测等资料。结果165例DSD患儿中,首诊原因以矮小(62/165,37.6%)、阴蒂肥大(33/165,20.0%)、隐睾(28/165,17.0%)、尿道下裂(24/165,14.5%)、皮肤黑和/外阴色素沉着(19/165,11.5%)较常见。127例进行了染色体核型分析,结果显示36例(28.3%)为46,XX DSD,34例(26.8%)为46,XY DSD,57例(44.9%)为性染色体异常。在性染色体异常核型中,以45,X核型(11/57,19%)和45,X伴其他核型嵌合(36/57,63%)多见。16例进行了性腺组织病理学活检,获得25份性腺组织。性腺组织活检显示3份为睾丸,3份为发育不良睾丸,6份为卵巢,11份为卵睾,条索状性腺和性腺缺如各1份。基因检测显示23例(23/36,64%)携带致病性/可能致病性变异,其中12例为CYP21A2基因致病变异导致的21-羟化酶缺乏性先天性肾上腺皮质增生症。结论矮小、阴蒂肥大、隐睾、尿道下裂、皮肤色素沉着为DSD患儿的常见表型;45,X伴其他核型嵌合和CYP21A2基因复合杂合变异是DSD患儿的主要病因;患儿性腺活检以卵睾、卵巢和睾丸/发育不良睾丸常见。展开更多
目的探讨性别发育异常(disorders of sex development,DSD)合并近端尿道下裂患儿尿道成形术后并发症的危险因素。方法回顾性分析2012年1月至2020年1月郑州大学第一附属医院小儿泌尿外科收治的40例DSD合并近端尿道下裂患儿临床资料,随访...目的探讨性别发育异常(disorders of sex development,DSD)合并近端尿道下裂患儿尿道成形术后并发症的危险因素。方法回顾性分析2012年1月至2020年1月郑州大学第一附属医院小儿泌尿外科收治的40例DSD合并近端尿道下裂患儿临床资料,随访时间均超过2年。收集患儿首次入院时年龄、DSD类型、术前合并疾病、尿道成形术式、尿道成形长度、外生殖器雄性化评分(external masculinization score,EMS)、术前是否应用激素治疗、术后近期并发症等情况,分析DSD合并近端尿道下裂患儿术后出现近期并发症的影响因素。结果40例患儿入院时年龄1岁1个月至10岁8个月,平均年龄3岁8个月;尿道成形术后出现并发症10例(10/40,25%),其中尿瘘7例,尿道狭窄1例,尿道裂开1例,术后反流性附睾炎1例;并发症组与无并发症组患儿术前应用激素治疗[(2/10)比(19/30)]、EMS评分[5.5(4,8)比8(7,8)]及合并小阴茎[(6/10)比(5/30)]比较,差异具有统计学意义(P<0.05),而两组患儿入院年龄[39.0(18.75,58.50)比30.5(22.00,38.75)]、DSD类型[(3/10)比(4/10)比(3/10)]、尿道成形长度[一期5.0(5.0,6.0)比3.0(2.0,4.0),分期4.5(4.25,8.75)比5.0(4.5,6.5)]比较,差异无统计学意义(P>0.05)。结论对于DSD合并近端尿道下裂患儿,术前应用激素治疗、EMS低以及合并小阴茎可能导致术后近期并发症发生率升高。展开更多
基金supported by the Veneto Region Health Administration
文摘Background:Pervasive developmental disorders(PDDs)can be very difficult to diagnose in children and to communicate such a diagnosis to their parents.Families of children with PDD learn of their child's diagnosis long after the first symptoms are noted in the child's behavior.Methods:An area-based survey was conducted to assess all social and health care providers taking care of patients with PDDs in the Veneto Region(North-East Italy).Results:Only 28%of health care providers arrived at a definite diagnosis when the child was in his/her first year of age,51%when the child was 2-3 years old and 21%from age of 4 years and up.On average,the latency between the time of the diagnosis and its communication to the family was 6.9 months.However,a number of families did not ever have a diagnosis communicated to them.Sometimes,68%of the providers did not communicate a PDDs diagnosis to patient's families,and 4%of them quite commonly.Conclusion:The well-known delay in making a diagnosis of PDDs has two distinct components:one relating to the difficulty of confirming a diagnosis of PDDs,the other,hitherto unrecognized,relating to the family being notified.
文摘目的探讨人绒毛膜促性腺激素(human chorionic gonadotrophin,hCG)激发试验在诊断不同分型性发育异常(disorder of sexual development,DSD)患儿中的价值。方法回顾性分析132例DSD患儿,按染色体核型分为46,XX组(n=10)、46,XY组(n=87)、性染色体异常组(n=35),比较各组患儿hCG激发试验前后的性激素水平,分析形态学上是否存在睾丸组织对hCG激发试验结果的影响。结果3组患儿激发试验后睾酮(testosterone,T)增加倍数比较差异无统计学意义(P>0.05)。46,XY组中,5α-还原酶2缺乏症患儿激发试验后的T与双氢睾酮(dihydrotestosterone,DHT)比值高于其他46,XY DSD患儿(P<0.05)。形态学上,有睾丸组织的DSD患儿激发试验后T增加倍数高于无睾丸组织患儿(P<0.05)。结论hCG激发试验对于评估不同类型的DSD患儿的睾丸间质细胞存在和功能均具有重要价值,对于性腺性质不明确的DSD患儿,均建议行hCG激发试验。
文摘目的探讨性发育异常疾病(disorders of sex development,DSD)患儿的临床表型、遗传特点和病理学特征。方法回顾性分析2008年8月—2022年12月河北省儿童医院和唐山市妇幼保健院收治的165例DSD住院患儿的流行病学、临床表型、染色体核型、性腺病理及基因检测等资料。结果165例DSD患儿中,首诊原因以矮小(62/165,37.6%)、阴蒂肥大(33/165,20.0%)、隐睾(28/165,17.0%)、尿道下裂(24/165,14.5%)、皮肤黑和/外阴色素沉着(19/165,11.5%)较常见。127例进行了染色体核型分析,结果显示36例(28.3%)为46,XX DSD,34例(26.8%)为46,XY DSD,57例(44.9%)为性染色体异常。在性染色体异常核型中,以45,X核型(11/57,19%)和45,X伴其他核型嵌合(36/57,63%)多见。16例进行了性腺组织病理学活检,获得25份性腺组织。性腺组织活检显示3份为睾丸,3份为发育不良睾丸,6份为卵巢,11份为卵睾,条索状性腺和性腺缺如各1份。基因检测显示23例(23/36,64%)携带致病性/可能致病性变异,其中12例为CYP21A2基因致病变异导致的21-羟化酶缺乏性先天性肾上腺皮质增生症。结论矮小、阴蒂肥大、隐睾、尿道下裂、皮肤色素沉着为DSD患儿的常见表型;45,X伴其他核型嵌合和CYP21A2基因复合杂合变异是DSD患儿的主要病因;患儿性腺活检以卵睾、卵巢和睾丸/发育不良睾丸常见。
文摘目的探讨性别发育异常(disorders of sex development,DSD)合并近端尿道下裂患儿尿道成形术后并发症的危险因素。方法回顾性分析2012年1月至2020年1月郑州大学第一附属医院小儿泌尿外科收治的40例DSD合并近端尿道下裂患儿临床资料,随访时间均超过2年。收集患儿首次入院时年龄、DSD类型、术前合并疾病、尿道成形术式、尿道成形长度、外生殖器雄性化评分(external masculinization score,EMS)、术前是否应用激素治疗、术后近期并发症等情况,分析DSD合并近端尿道下裂患儿术后出现近期并发症的影响因素。结果40例患儿入院时年龄1岁1个月至10岁8个月,平均年龄3岁8个月;尿道成形术后出现并发症10例(10/40,25%),其中尿瘘7例,尿道狭窄1例,尿道裂开1例,术后反流性附睾炎1例;并发症组与无并发症组患儿术前应用激素治疗[(2/10)比(19/30)]、EMS评分[5.5(4,8)比8(7,8)]及合并小阴茎[(6/10)比(5/30)]比较,差异具有统计学意义(P<0.05),而两组患儿入院年龄[39.0(18.75,58.50)比30.5(22.00,38.75)]、DSD类型[(3/10)比(4/10)比(3/10)]、尿道成形长度[一期5.0(5.0,6.0)比3.0(2.0,4.0),分期4.5(4.25,8.75)比5.0(4.5,6.5)]比较,差异无统计学意义(P>0.05)。结论对于DSD合并近端尿道下裂患儿,术前应用激素治疗、EMS低以及合并小阴茎可能导致术后近期并发症发生率升高。
