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关于尿道下裂的病因学因素。

On aetiological factors in hypospadias.

作者信息

Avellán L

出版信息

Scand J Plast Reconstr Surg. 1977;11(2):115-23. doi: 10.3109/02844317709025507.

Abstract

An analysis of genetic and non-genetic factors which might be of importance for the aetiology of hypospadias was performed in a clinical and in a registered material comprising altogether 893 hypospadiacs. Of 213 index patients in the clinical material, the probable aetiology was known in 11: in 3 patients chromosomal aberrations, in 2 well-defined syndromes with a known genetic background, in one maternal diabetes, in 2 maternal rubella, and 2 of the hypospadiacs were born after the mothers' use of anticonvulsant drugs and one after the mother's use of thalidomide. Other hypospadiacs were identified in 28 of the families of the remaining 202 index patients. As regards inheritance, 10 cases of hypospadias associated with clinodactyly were found in one family and this suggests an autosomal dominant gene as the cause of hypospadias. In the great majority (174/213) of index patients neither genetic nor non-genetic factors could be demonstrated but a significant cyclic trend for the month of birth and the month of the last menstrual period was found.

摘要

在一个临床病例材料和一个登记材料(共包含893例尿道下裂患者)中,对可能在尿道下裂病因学中具有重要意义的遗传和非遗传因素进行了分析。在临床材料的213例索引患者中,已知11例的可能病因:3例患者存在染色体畸变,2例患有具有已知遗传背景的明确综合征,1例母亲患有糖尿病,2例母亲感染风疹,2例尿道下裂患者在母亲使用抗惊厥药物后出生,1例在母亲使用沙利度胺后出生。在其余202例索引患者的家庭中又发现了28例尿道下裂患者。关于遗传,在一个家庭中发现10例尿道下裂与弯指畸形相关,这表明常染色体显性基因是尿道下裂的病因。在绝大多数(174/213)索引患者中,既未发现遗传因素也未发现非遗传因素,但发现出生月份和末次月经月份存在显著的周期性趋势。

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