Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorder associated with enzymatic deficiency which control the essential cortisol and aldosterone synthetis. This condition results in decreasing cortisol and aldosterone production and increasing androgen production excessively by adrenal cortex. Inadequate treatment in children with CAH can develop many problems such as excessive growth, skeletal maturation, virilization, and menstrual irregularities. It can affect the patient’s quality of life.
Objective: To report a case with the impact of discontinuance treatment for congenital adrenal hyperplasia in a fourteen-year-old girl. The case: A 14-year girl was diagnosed with CAH since 3 years old. Previously, the patient had the treatment with dexamethasone but she discontinued. After 9 years without any control, she had signs of androgen excess, such as enlarged clitoris, looked boyish and darker-skinned, had deep voice, no development of breast, and menstrual irregularities. Patient had history of acceleration of the growth velocity. The diagnosis with CAH was based on increased of 17-OH-progesterone and testosterone levels. Genital examination, the clitoris length was about 5.8 cm. Bone age was advanced (17 year old). Radiological examination showed uterus hypoplasia and ambiguous genitalia. Karyotype test result was 46,XX. The patient was treated with hydrocortison orally and was consulted to obstetry department for management of menstrual cycle with cycloprogynova tablet.
Conclusion: A case of congenital adrenal hyperplasia was reported. The diagnosis was based on history taking, physical examination and laboratory findings. Early diagnosis and proper treatment are key objectives for improvement of clinical condition and prevents virilization, allowing normal growth and development.