Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening ... Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by van der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome (300068) and Opitz syndrome (300000). - Genetic Heterogeneity of Hypospadias See also HYSP2 (300758), caused by mutation in the MAMLD1 gene (300120) on chromosome Xq28; HYSP3 (146450), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 (300856), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene (300837).
Sutherland et al. (1996) analyzed penile tissue from several locations in 40 patients who underwent reconstructive surgery for various degrees of hypospadias and found a C-to-T transition in exon 2 of the androgen receptor gene (pro546-to-ser) in only ... Sutherland et al. (1996) analyzed penile tissue from several locations in 40 patients who underwent reconstructive surgery for various degrees of hypospadias and found a C-to-T transition in exon 2 of the androgen receptor gene (pro546-to-ser) in only 1 patient (313700.0037). In the child with the mutation, the hypospadias was at the distal penile shaft and not associated with other genitourinary anomalies. Of the 26 patients with adequate information, none had an affected father or brother. Allera et al. (1995) also observed an AR mutation in exon 2 in a case of perineal isolated hypospadias and likewise concluded that AR mutations are rarely the cause of isolated hypospadias.
In a case-control study in Alsace, France, Stoll et al. (1990) found 176 cases of hypospadias out of 60,847 male infants, giving a prevalence at birth of 2.89 per 1,000 male newborns. Other malformations were present in about ... In a case-control study in Alsace, France, Stoll et al. (1990) found 176 cases of hypospadias out of 60,847 male infants, giving a prevalence at birth of 2.89 per 1,000 male newborns. Other malformations were present in about 15% of infants with hypospadias; of those with other malformations, renal and urinary tract malformations were present in 37%. The recurrence risk for brothers was 17%, and the heritability coefficient was calculated to be 56.9%.