Hypospadias in Three Generations: Is There a Dominant Responsible Gene for Hypospadias?

Abstract

Hypospadias can be defined as a incomplete development of the urethra. Most hypospadias cases show spontaneous occurrence and have no clear cause because the genetic pathways of external genitalia formation are poorly understood. Familial tendency is associated with hypospadias. The brother of an affected boy may also have hypospadias, and this rate is approximately 9-17%. In this case report, we present three hypospadias cases with the same localization that have prolonged to three generations including grandfather, father and three sons. They were applied by their father for circumcision. The socio-economic status of the father was the main reason for the delay of elder brothers' circumcision. We revealed midshaft hypospadias without chordee in three brothers at physical examination. The father also told us he had the same disorder and our physical examination of the father supported hypospadias. Also according to the history taken from father, the grandfather had also hypospadias probably at the same localization. We performed tubularized incised urethral plate to these cases. In the light of these cases, we have thought that there should be a dominant gene responsible for formation of hypospadias.

Asociación entre hipospadias y criptorquidia con anquiloglosia y anquiloquilia en pacientes del Hospital Infantil de Morelia

“…Es de etiología multifactorial, siendo asociada en gran parte a cambios ambientales como la contaminación ambiental, existen casos reportados por traumatismos embrionarios en edad crítica y factores hereditarios asociados al cromosoma X. (34)(35)(36)(37)(38) Demir relaciona las hipospadias con los genes: AR, SRD5A2, HSD17B3, ESR1, ESR2, ATF3, MAMAMLD1/CX o F6. (36) Las hipospadias se clasifican en anterior, siendo las propias del glande y subcoronal, media, peneana comprende al pene distal, eje medio y pene proximal, posterior penoescrotal, escrotal y perineal.…”

“…(34)(35)(36)(37)(38) Demir relaciona las hipospadias con los genes: AR, SRD5A2, HSD17B3, ESR1, ESR2, ATF3, MAMAMLD1/CX o F6. (36) Las hipospadias se clasifican en anterior, siendo las propias del glande y subcoronal, media, peneana comprende al pene distal, eje medio y pene proximal, posterior penoescrotal, escrotal y perineal. Criptorquidia, es un fallo en el descenso del testículo a su posición escrotal, es una afección congénita común que se manifiesta en pacientes pediátricos del 1 al 3 %.…”

Our Experience with a Double-Layer Surgical Technique for Preventing Fistula Development in Children and Young Adults with Hypospadias

“…Hp is the second most common congenital malformation in males, and its incidence is 1/1,000 to 1/100; it changes according to the literature due to differences of ethnic origin and countries. Etiologic reasons for its development is the environmental factors of child and mother, the endocrine and genetic background of the child, principally gonadal steroid synthesis, and the genes of the phallic development [2,3]. …”