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Title: AMBIGUOUS GENITALIA - CAH

e-poster Number: EP 104

Category: Miscellaneous
Author Name: Dr. Harish Maharana
Institute: MKCG Medical College And Hospital , Brahmapur
Co-Author Name:
Abstract :
Introduction: Ambiguous genitalia refers to a congenital disorder where the development of chromosomal, gonadal, and anatomical sex is atypical. It is commonly associated with conditions like Congenital Adrenal Hyperplasia (CAH), where enzyme deficiencies lead to virilizing forms in females. Aims & Objectives: This study aims to highlight the clinical presentation, diagnosis, and management of ambiguous genitalia, focusing on a case of Congenital Adrenal Hyperplasia. The objective is to improve understanding of early identification and treatment strategies for optimizing patient outcomes. Material & Methods: A 28-year-old female presented with ambiguous genitalia, delayed menarche, and excessive facial hair. She had a history of a consanguineous marriage and was diagnosed as female at birth. Physical examinations revealed clitoromegaly and virilization signs. Investigations showed elevated levels of testosterone and 17-OH progesterone, with an abnormal MRI indicating bilateral adrenal gland enlargement. The patient was managed with corticosteroids, clitoroplasty, vaginoplasty, and laser therapy. Results: The patient was diagnosed with Congenital Adrenal Hyperplasia (CAH), with a simple virilizing type caused by 21-hydroxylase deficiency. After medication and surgical interventions, including clitoroplasty and vaginoplasty, the patient showed significant improvement in physical appearance, including reduced facial hair. The management plan involved lifelong corticosteroid replacement to control hormone levels and prevent further virilization. Conclusions: Ambiguous genitalia, particularly due to CAH, requires multidisciplinary management involving hormonal therapy and surgical correction. Early diagnosis and intervention, especially in delayed cases like this, are crucial for preventing complications and improving the quality of life. Consistent hormonal regulation and patient education are key components of successful long-term outcomes