Penis agenesia

Penis Agenesia

Penis agenesia is a rare congenital condition characterized by the complete absence of the penis in an individual with a typical male karyotype (46,XY). This condition is a form of genital agenesis, which involves the absence of one or more of the primary genital structures.

Etiology

Penis agenesia occurs due to a failure in the development of the genital tubercle during embryogenesis. The exact cause of this developmental failure is not well understood, but it is believed to involve genetic and environmental factors that disrupt normal genital development.

Diagnosis

Diagnosis of penis agenesia is typically made at birth through physical examination. Further diagnostic procedures may include:

• Karyotype analysis to confirm the presence of a 46,XY chromosomal pattern.
• Ultrasound or MRI to assess the presence and development of internal reproductive structures.

Associated Conditions

Penis agenesia may be associated with other congenital anomalies, such as:

• Bladder exstrophy
• Cloacal exstrophy
• Renal agenesis

Management

Management of penis agenesia involves a multidisciplinary approach, including:

• Psychological support for the individual and family.
• Surgical reconstruction options, such as phalloplasty, to create a functional neophallus.
• Hormone therapy to induce secondary sexual characteristics if needed.

Prognosis

The prognosis for individuals with penis agenesia varies depending on the presence of associated anomalies and the success of surgical interventions. With appropriate medical and psychological support, individuals can lead fulfilling lives.

Research and Future Directions

Ongoing research aims to better understand the genetic and environmental factors contributing to penis agenesia and to improve surgical techniques and outcomes for affected individuals.

NIH genetic and rare disease info

• NIH info on Penis agenesia

Penis agenesia is a rare disease.