Family based genetic study in proximal penile hypospadias with undescended testis

Objective: Hypospadias is known to have familial inheritance because of multifactorial etiology. Little is known about the genetic polymorphism involved in hypospadias. A few genetic associations have been reported but mainly in studies of small sample size and were based on case control stud . The aim of this study was to evaluate whether the genetic polymorphism ies usually seen in the affected siblings, also seen in other 1st degree relative of the family (father, mother, brothers). Methods: Prospective analysis of 60 cases of penoscrotal/ scrotal hypospadias with unilateral or bilateral undescended testis and their 1st degree relatives (father, mother and brother) . Inclusion criteria included cases of penoscrotal/ scrotal hypospadias with was done 46 karyotype. Exclusion criteria included cases of disorders of sexual differentiation, lost to follow up or not giving consent for XY the study. Investigations include hormonal assessment of cases, karyotype, genitogram, and genetic assessment by allelespecific polymerase chain reaction. Mean age at presentation was 3.7 years (range 2.2-7.5 years) enoscrotal Results: . P hypospadias with unilateral undescended testis was seen in 27(45%), with bilateral in 9(15%), scrotal hypospadias with UDT unilateral undescended testis ( ) in 18(30%), with bilateral 6(10%). Mean level of serum testosterone, leutinising UDT UDT in hormone ( ), follicular stimulating hormone ( ) was 0.003 (ng/ml), 0.168 (ng/ml), 0.214(ng/ml) respectively. Most common LH FSH genetic polymorphism seen was V89L polymorphism in 5A2 gene. Hypospadias is a congenital disorder SRD Conclusion: having multifactorial etiology including familial inheritance however mothers are a carrier for genetic polymorphism is highly ,