“Managing Atypical Genitalia and Persistent Urogenital Sinus in Congenital Adrenal Hyperplasia: A Multidisciplinary Approach"
Abstract:
Introduction
Atypical genitalia and persistent urogenital sinus are significant challenges in the management of congenital adrenal hyperplasia (CAH), a group of disorders caused by enzyme deficiencies in adrenal steroidogenesis. CAH leads to disruptions in cortisol and aldosterone production and excessive androgen exposure, which can result in ambiguous genitalia and urogenital anomalies, such as a persistent urogenital sinus. These conditions complicate sex assignment, requiring a multidisciplinary approach to diagnosis and management.
Aim of Study
The aim of this study is to examine the management strategies, surgical interventions, and outcomes associated with atypical genitalia and persistent urogenital sinus in a patient diagnosed with CAH. The study highlights the importance of early intervention and a comprehensive care plan in achieving optimal outcomes for affected individuals.

This case study follows a 10-year-old female patient diagnosed with CAH, who presented with atypical genitalia, including a common single opening, absence of a vagina, and a well-developed phallus. Diagnostic methods included clinical evaluation, hormonal testing, and imaging studies to confirm the diagnosis and assess the severity of the urogenital anomalies. Surgical interventions, including urethroscopy and vaginoplasty, were performed as part of a comprehensive treatment plan. Long-term follow-up and hormonal therapy were also part of the treatment protocol to normalize androgen levels and promote normal sexual differentiation.

Following multiple surgeries, including urethroscopy and vaginoplasty, the patient showed significant improvement in both physical and psychological health. The child is now living a healthy and fulfilling life, with normalized genital structure and no significant complications. Hormonal therapy has been effective in maintaining proper androgen levels, and the patient has demonstrated appropriate developmental progress. These results highlight the effectiveness of early, comprehensive intervention in managing complex cases of CAH with atypical genitalia and persistent urogenital sinus.

Early diagnosis, timely surgical interventions, and ongoing hormonal treatment are critical in ensuring positive long-term outcomes.

This case study emphasizes the importance of a multidisciplinary approach in managing atypical genitalia and persistent urogenital sinus in CAH. Early diagnosis, timely surgical interventions, and ongoing hormonal treatment are critical in ensuring positive long-term outcomes. Our experience demonstrates that with appropriate care, children with CAH can lead healthy, fulfilling lives. This report underscores the value of early, individualized management in addressing the challenges presented by this complex condition.