Aetiological Studies of Hypospadias in Hungary

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Abstract
A complex etiological (epidemiological, teratological and genetic) study was made in 294 index patients with simple isolated hypospadias. The epidemiological study conducted by the help of personal interviews of the mothers revealed a higher frequency of index patients among children born between Aug. and Dec., among twins, mainly monozygotic, and finally in the lower birth weight groups and among 1st-borns. The teratological study showed a higher frequency in mothers of index patients who had had sex hormone treatment, mainly progestogen, before the 16th gestational wk. This seems to indicate the etiological role of fetal androgen deficit caused by the regulation disturbances of human chorionic gonadotropin. The genetic family study completed by personal examination of 1st-degree male relatives showed a familial clustering (4.0% vs. a point prevalence of 0.44% in live births). Both the pattern of affected relatives (h2 [heritability] values 0.62 .+-. 0.21 and 0.72 .+-. 0.33 in fathers and brothers, respectively, not differing significantly from each other) and further characteristics (other malformations were not frequent in relatives) correspond to the multifactorial-threshold model.

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