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Hypospadias

Definition:

Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic and environmental factors. Mutations in the androgen receptor gene (AR) have been found in patients with severe forms of hypospadias. It was also reported that MAMLD1 is a causative gene. MAMLD1 is an X-linked transcriptional co-activator, expressed in foetal Sertoli and Leydig cells around the critical period for sexual development.

References:

[1]. Aurore Bouty, et al. The Genetic and Environmental Factors Underlying Hypospadias. Sex Dev. 2015;9(5):239-259. [Content Brief]

[2]. Maki Fukami, et al. CXorf6 is a causative gene for hypospadias. Nat Genet. 2006 Dec;38(12):1369-71. [Content Brief]

[3]. N Kalfa, et al. Hypospadias: interactions between environment and genetics. Mol Cell Endocrinol. 2011 Mar 30;335(2):89-95. [Content Brief]

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