The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
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DOI：
10.1210/jc.2016-1372
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发表时间：
2016-11
期刊：
影响因子：
--
通讯作者：
Ahmed SF
中科院分区：
文献类型：
--
作者：
Lucas-Herald A;Bertelloni S;Juul A;Bryce J;Jiang J;Rodie M;Sinnott R;Boroujerdi M;Lindhardt Johansen M;Hiort O;Holterhus PM;Cools M;Guaragna-Filho G;Guerra-Junior G;Weintrob N;Hannema S;Drop S;Guran T;Darendeliler F;Nordenstrom A;Hughes IA;Acerini C;Tadokoro-Cuccaro R;Ahmed SF
在疑似部分雄激素不敏感综合征(PAIS)的男孩中，缺乏系统证据支持识别雄激素受体基因(AR)突变的长期预后价值。目的：根据AR分析结果，评估疑似PAI的年轻男性患者的临床特征和长期预后。通过国际性发育障碍登记处，收集了怀疑患有PAI(n=52)的年轻男子的临床信息，这些人在16岁之前出现，并进行了AR的基因分析。发病时的中位年龄为1个月(1天至16岁)，研究时的中位年龄为22岁(16至52岁)。在队列中，29名男性(56%)报告了20种不同的AR突变。在诊断时，AR突变患者和无AR突变患者的外在男性化评分的中位数分别为7和6(P=0.9)，当前外在男性化评分的中位数分别为9和10(P=0.28)。35名男性(67%)至少需要一次手术，那些携带突变的男性更有可能需要多次手术治疗尿道下裂(P=0.004)。所有AR突变的病例都有女性乳房发育，而没有AR突变的病例中，这一比例为9%。在接受乳房切除术的六名男性中，有五名(83%)有AR突变。与XY DSD、T合成正常、没有可识别的AR突变的男孩相比，患有基因确认的Pais的男孩的临床结果可能更差。对变应性鼻炎进行常规基因分析，以确定PAIS，为长期预后和治疗提供信息。利用I-DSD注册表，一项关于怀疑在童年时患有PAIS的年轻男子的长期结果的研究显示，在那些确认AR基因突变的人中，结果显然更糟。
In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis. Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR. The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16 years) and 22 years (range, 16 to 52 years), respectively. Of the cohort, 29 men (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinization scores were 7 and 6 in cases with and without AR mutation, respectively (P = .9), and median current external masculinization scores were 9 and 10, respectively (P = .28). Thirty-five men (67%) required at least one surgical procedure, and those with a mutation were more likely to require multiple surgeries for hypospadias (P = .004). All cases with an AR mutation had gynecomastia, compared to 9% of those without an AR mutation. Of the six men who had a mastectomy, five (83%) had an AR mutation. Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management. Using the I-DSD Registry, a study of long-term outcome in young men suspected of having PAIS in childhood reveals that outcome is clearly worse in those with a confirmed AR gene mutation.
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影响因子：
3.5
作者：
Arboleda VA;Lee H;Sánchez FJ;Délot EC;Sandberg DE;Grody WW;Nelson SF;Vilain E
通讯作者：
Vilain E
影响因子：
3.2
作者：
Ahmed, S. Faisal;Achermann, John C.;Willis, Debbie
通讯作者：
Willis, Debbie
影响因子：
15.9
作者：
Ashcroft, GS;Mills, SJ
通讯作者：
Mills, SJ
影响因子：
4.1
作者：
Brinkmann, AO
通讯作者：
Brinkmann, AO
雄激素在早期人性发展中的差异作用。
影响因子：
9.3
作者：
Hiort O
通讯作者：
Hiort O