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Hypospadias is a congenital anomaly of the male urethra that results in abnormal ventral placement of the urethral opening and is associated with abnormal foreskin development and penile curvature.

Hypospadias is one of the most common congenital anomalies with an incidence that varies from 0.3 to 0.7 percent in live male births.

In most cases, the pathogenesis remains unknown but is thought to be caused by disruption of the androgenic stimulation required for the development of the normal male external genitalia with both associated genetic and environmental factors. 

The diagnosis of hypospadias is generally made during the newborn examination. The following physical findings are consistent with the diagnosis:

Abnormal foreskin resulting in an incomplete closure around the glans leading to the appearance of a dorsal hooded prepuce.

Abnormal penile curvature (chordee).

Ectopic urethral meatus or blind ending urethral pit

The initial evaluation focuses on identifying other associated anomalies and the genital examination that determines the presence and degree of hypospadias.

The genital examination is used to classify hypospadias based on the location of the ectopic urethral meatus, penile curvature, and the appearance of the foreskin.

Further evaluation includes:

Evaluation for patients at risk for disorders of sex development (DSD), including those with both cryptorchidism and hypospadias, and those with isolated severe hypospadias. The workup for these patients includes pelvic ultrasound, karyotype, and serum electrolytes.

Renal and bladder imaging with ultrasonography is reserved for patients with other anomalies and those with febrile or symptomatic urinary tract infection, because they are at risk for upper tract abnormalities. In cases where there are multiple major birth defects, further evaluation to detect an underlying syndrome or genetic defect is performed. 

From Up To Date: Hypospadias: Pathogenesis, diagnosis, and evaluation 

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