Hypospadias is one of the most common male genital anomalies, second only to undescended testes. Abnormal development of the penis may be due to gene mutations, estrogenic exposure, androgenic stimulation, or developmental arrest. Reports suggest maternal exposure to certain chemicals, detergents, cosmetics, and pesticides may be causative. Approximately 90% of cases are isolated and without associated genetic disorders. While most cases are isolated, hypospadias with undescended testes is associated with numerous disorders of sex development and warrants a karyotype study.
Hypospadias may cause problems with urinary stream control, an increased risk of urinary tract infections, erectile dysfunction, and problems with semen flow, resulting in infertility.
Depending on the severity and location of the urethral opening, neonatal circumcision is not recommended prior to surgery, as the foreskin may be used in reconstruction.
Q54.9 – Hypospadias, unspecified
416010008 – Hypospadias
Differential Diagnosis & Pitfalls
- Chordee without hypospadias – Characterized by penile curvature and abnormalities of fascia or corpus spongiosum with normal location of the urethral meatus.
- Epispadias – Urethral meatus is located on the dorsal aspect of the penis.
- Disorders of sex development – , 5-α reductase deficiency, partial or complete , ovotesticular disorder, mixed gonadal dysgenesis, etc.
- – Inborn error of cholesterol synthesis characterized by facial dysmorphism and intellectual disability.
- – Wilms tumor, aniridia, genital anomalies, and intellectual disability.
- Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome – A spectrum of disorders with characteristic facial dysmorphism, delayed growth and development, seizures, and intellectual disability.
- 13q deletion syndrome – Characteristic craniofacial abnormalities, imperforate anus, and hypospadias.
- Hand-foot-uterus syndrome – Characterized by short digits and various genitourinary tract abnormalities.