Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B) - Report of three Italian cases with hypospadias and review
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B) - Report of three Italian cases with hypospadias and review
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DOI：
10.1159/000085894
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发表时间：
2005-01-01
期刊：
影响因子：
--
通讯作者：
Bernasconi, S
中科院分区：
文献类型：
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作者：
Garavelli, L;Cerruti-Mainardi, P;Bernasconi, S
尿道下裂，当尿道在阴茎的腹侧打开时，是一种常见的畸形，每1,000名男性中约有3名。它是一种与遗传和环境因素相关的复杂疾病，可能是遗传综合征的一部分。Mowat-Wilson综合征（MWS）是一种多发性先天性异常综合征，以独特的面部表型、先天性巨结肠、小头畸形和智力低下为特征。它是由锌指同源盒1B基因ZFHX 1B（SIP 1）突变引起的。迄今为止，已报告了68例缺失/突变阳性病例。泌尿生殖系统异常在MWS中很常见。在这里我们报告尿道下裂是常见的男性与这种综合征。在39例有此信息的患者中，46%的患者（18/39）存在尿道下裂。在这里报告的3例意大利男性病例中，尿道下裂始终存在。对于伴有发育迟缓/智力低下的尿道下裂患者，尤其是存在不同面部表型的患者，内分泌学家应考虑MWS。版权所有（C）2005 S. Karger AG，巴塞尔。
Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype. Copyright (C) 2005 S. Karger AG, Basel.