Scopul nostru este sprijinirea şi promovarea cercetării ştiinţifice şi facilitarea comunicării între cercetătorii români din întreaga lume.
Autori: D. Vasilie, M. Puiu, C. S. Pop
Editorial: European Journal of Human Genetics, 2005.
Hypospadias is a congenital malformation with a complex etiology which consist in abnormal opening of penile urethra. We have studied 756 cases of hypospadias in our clinic between 1975 -2000. This trial was statistical significant. In order to determine the role of genetic factors familial study were performed to investigate the frequency of such malformation in relatives. An increase frequency could be explained by the transmission of an enzymatic defect in the synthesis of testosterone or decrease sensitivity of testosterone receptor. In 13.7% of cases significant familial aggregation of hypospadias ( 2 or more members of the same family) were identified. In 3.17% of cases related malformations were found (skeletal and cardiac). In 13.49% of cases hypospadias was associated to other genital malformations. The study determines the role of genetic factors in the etiology and pathology of hypospadias . The inheritance of hypospadias ist probably polygenic multifactorial.
Cuvinte cheie: Hypospadias, familial aggregation, polygenic multifactorial inheritance