Epidemiology and initial management of ambiguous genitalia at birth in Germany
Epidemiology and initial management of ambiguous genitalia at birth in Germany
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DOI：
10.1159/000094782
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发表时间：
2006-01-01
期刊：
影响因子：
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通讯作者：
Hiort, Olaf
中科院分区：
文献类型：
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作者：
Thyen, Ute;Lanz, Kathrin;Hiort, Olaf
背景资料：在这项流行病学研究中，我们试图捕捉新生儿不明生殖器的发病率，并描述初步的管理策略。研究方法：我们使用德国儿科罕见疾病登记处来确定病例，并询问报告机构有关表型、实验室检查、影像学结果、诊断、初始管理和性别分配的信息。结果如下：我们在2年的研究期内确定了80例病例，并计算出德国每年每10，000名新生儿中有2例生殖器不清。非德国家庭背景的婴儿患病率较高。超过50%的婴儿甚至在6个月大时也缺乏明确的诊断。在病因确诊的病例中，最常见的诊断是先天性肾上腺皮质增生，其次是雄激素不敏感综合征和混合性性腺发育不全。相关畸形非常常见，占所有婴儿的37.5%。46，XY婴儿性别分配为女性，女性表型占主导地位，所有46，XX婴儿均为女性。早期手术在许多情况下，无论是否已建立明确的诊断或没有。综合心理社会护理是例外，而不是常规。结论：出生时不明生殖器的分类和处理仍然是所有相关专业人员的挑战。国家和国际登记处可能有助于更好地了解这类疾病的发病率和临床病程。版权所有（c）2006 S. Karger AG，巴塞尔。
Background: In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies. Methods: We used the registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting institutions for information on phenotype, laboratory tests, imaging results, diagnosis, initial management and sex assignment. Results: We identified 80 cases within a 2-year study period and calculated an incidence of 2 per 10,000 births with ambiguous genitalia per year in Germany. Prevalence was higher in infants from non-German family background. In more than 50% of all infants a definite diagnosis was lacking even at the age of 6 months. In those cases where the etiology was confirmed, the most common diagnosis was congenital adrenal hyperplasia, followed by androgen insensitivity syndrome and mixed gonadal dysgenesis. Associated malformations were very common, affecting 37.5% of all infants. Sex assignment was female in 46,XY infants with predominately female phenotype and all 46,XX infants. Early surgery was performed in many cases irrespective whether a definite diagnosis had been established or not. Integrated psychosocial care was the exception rather than the rule. Conclusions: Classification and management of ambiguous genitalia at birth remain a challenge for all professionals involved. National and international registries may help to provide a better understanding of the incidence and clinical course of such disorders. Copyright (c) 2006 S. Karger AG, Basel.