Question

Describe briefly : Penile agenesis.

Hint:

Penile agenesis requires multidisciplinary management, including surgery, psychological support, and ongoing urological care.

Answer 1

Penile agenesis is a rare congenital condition in which a male is born without a penis. This condition is part of a spectrum of disorders related to urogenital development and is usually associated with other genital and urinary tract abnormalities.
Step 1: Embryology and Pathogenesis:
1. Abnormal Development: Penile agenesis occurs due to abnormal development of the genital tubercle during the early stages of fetal life. The genital tubercle normally develops into the penis in males, but in cases of agenesis, it fails to form.
2. Associated Genetic Factors: This condition is often associated with genetic syndromes, including PAX2 and HOX gene mutations, which are critical for the development of the genital structures.
Step 2: Clinical Presentation:
1. Absence of Penis: The most striking feature is the absence of the penis, though the testes are usually present and normally developed.
2. Other Genital Abnormalities: The condition is often associated with abnormalities of the scrotum, urethra, and urinary tract.
Step 3: Diagnosis:
1. Physical Examination: Penile agenesis is diagnosed through physical examination and imaging.
2. Genetic Testing: Genetic testing may help identify any underlying genetic syndromes contributing to the agenesis.
Step 4: Management:
1. Surgical Reconstruction: Surgical interventions can create a neo-phallus using either tissue from other parts of the body or prosthetics.
2. Psychosocial Support: Psychological counseling is essential for both the patient and the family to cope with the condition and manage social and emotional challenges.