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

Aslan Demir, Mert Ali Karadag, Kursat Cecen, Omer Erkam Arslan

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.




J Med Cases. 2014;5(3):152-154
doi: http://dx.doi.org/10.14740/jmc1670w

Keywords


Hypospadias; Gene; Molecular genetics

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