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INTRODUCTIONThe incomplete descent of one or both testis through the inguinal canal into the scrotum is a developmental anomaly known as cryptorchidism (DOID: 11383), which is seen in approximately 1%–9% of male newborns.1,2 By the end of the first year of life, due to spontaneous descent, only 1% of boys will still have cryptorchidism.3 The persistence of cryptorchidism represents a risk factor for testicular cancer4 and sub‐fertility.5 The influence of different factors over cryptorchidism has been extensively studied. Potential etiological factors include maternal, gestational and hormonal disturbances, and also genetic factors. Only a few of them, however, have demonstrated significant associations, such as maternal smoking, birth weight, family history of cryptorchidism, and some genetic variants.2 Among the genes potentially implicated in cryptorchidism is the androgen receptor gene (AR).6Testicular descent occurs in two phases; transabdominal, mainly regulated by INSL3, and inguinoscrotal, which is under androgen control (testosterone and dihydrotestosterone—DHT). The first phase (transabdominal) occurs between the 10th and 12th weeks of gestation in humans and is characterized by gubernaculum thickening which pulls the testicles from the abdominal wall into the inguinal ring. The last phase (inguinoscrotal) is characterized by migration of the gubernaculum with elongation of the processus vaginalis following
Andrology – Wiley
Published: Jun 28, 2023
Keywords: androgen receptor; cryptorchidism; polymorphisms
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