A Case Report on Ambiguous Genitalia

Abstract

Disorders of sexual development are a group of congenital condition in which the development of chromosomal, gonadal and anatomical sex is atypical. The term atypical or ambiguous genitalia refer to any case in which the external genitalia do not appear completely male or female. Child with ambiguous genitalia possesses unique decision-making challenges regarding sex assignment family education and medical management.

In this case study, a 28-year-old female patient presented with abnormal genitalia and excessive facial hair growth. Patient was diagnosed with virilizing type of congenital adrenal hyperplasia after clinical evaluation, physical examination and biochemicalinvestigations. She was treated with prednisolone and spironolactone followed by surgical correction of external genitalia at plastic surgery department.

Congenital adrenal hyperplasia is an autosomal recessive disorder caused by mutations in the CYP21 gene, leading to a deficiency of the 21-hydroxylase enzyme. This deficiency results in decreased levels of corticosteroids and an overproduction of androgens. Early diagnosis and corticosteroid supplementation, such as prednisolone, can effectively reduce virilisation in affected individuals.