From the Guidelines
Hypospadias and epispadias are congenital urological conditions with risk factors including genetic predisposition, as seen in individuals with 22q11.2 deletion syndrome, which may involve congenital anomalies such as hypospadias 1. The management of these conditions primarily involves surgical correction, with the goal of improving urinary function, cosmetic appearance, and sexual function. Key risk factors for hypospadias include:
- Family history
- Maternal age over 35
- Low birth weight
- Premature birth
- Maternal exposure to endocrine disruptors
- Certain medications during pregnancy For epispadias, risk factors are less defined but include:
- Family history
- Association with bladder exstrophy Surgical repair is typically performed between 6-18 months of age for hypospadias and 6-12 months for epispadias, with the approach depending on defect severity. The most critical aspect of management is early intervention, as these conditions can cause psychological distress, urinary dysfunction, and sexual difficulties if left untreated, highlighting the need for prompt surgical correction and long-term follow-up 1. Postoperative care includes pain management, wound care, and monitoring for complications like fistula formation, strictures, or meatal stenosis. Long-term follow-up is essential through adolescence to assess urinary function, cosmetic outcomes, and sexual function, ensuring the best possible quality of life for individuals with these conditions.
From the Research
Risk Factors for Hypospadias
- Genetic predisposition and hormonal influences are thought to contribute to the development of hypospadias 2, 3
- Low birthweight, maternal hypertension, and pre-eclampsia have been consistently implicated as environmental risk factors for hypospadias 4
- Exogenous endocrine-disrupting chemicals may also play a role in the development of hypospadias, although the extent of human exposure is unclear 4
- Mutations in certain genes, such as WT1, SF1, and AR, have been found in some cases of hypospadias, although these are thought to be rare 4
- Polymorphisms in genes such as FGF8, FGFR2, and ESR1 have also been associated with an increased risk of hypospadias 4
Risk Factors for Epispadias
- There is limited information available on the specific risk factors for epispadias, although it is thought to be related to genetic and environmental factors similar to those involved in hypospadias
Management Options for Hypospadias and Epispadias
- Surgery is currently the recommended treatment for hypospadias, with the goal of achieving cosmetic and functional normality 2, 3
- The optimal age for surgical repair is still unclear, although most guidelines recommend referral for treatment between 6 and 18 months of age 2
- Long-term complications of hypospadias repair can include urinary tract symptoms, sexual dysfunction, and cosmetic issues 2, 3
- New developments in surgical techniques and individualized approaches may help to reduce complications and improve patient satisfaction 2
Note: There is limited information available on the management of epispadias, and further research is needed to fully understand the risk factors and treatment options for this condition.