Congenital adrenal hyperplasia

Abstract

A four-year-old girl was diagnosed with salt-wasting type of congenital adrenal hyperplasia with a high level of 17-hydroxyprogesterone and high level of testosterone. Congenital adrenal hyperplasia (CAH) is a genetic disorder at birth. It is caused by a deficiency of 21-hydroxylase and is the most common factor in influencing cortisol and aldosterone levels in >60% of patients. Excessive prenatal androgen exposure (e.g., testosterone, and rostenedione) during sexual differentiation induces prenatal virilization of the external genitalia, leading to ambiguous genitalia at the birth of a genetically female infant. Based on the patient's ability to produce aldosterone as a salt-retaining hormone, classic 21-OH deficiency-induced CAH is divided into two subtypes: simple virilizing (SV) and salt wasting (SW). 21-OH enzyme deficiency is the most common factor in reducing cortisol and aldosterone levels and stimulating the adrenal gland to work extra hard and produce more cortisol. Moreover, 21-OH enzyme deficiency inhibits cortisol production, resulting in lower cortisol levels and excessive testosterone production. In boys, excessive testosterone leads to precocious puberty, while in girls it induces prenatal virilization of the external genitalia and hirsutism, acne, and menstrual disorders in adulthood. This patient exhibited clitoromegaly at birth and underwent clitoroplastyin 2011 and currently undergoes observation and treatment at the FKUI-RSCM endocrinology division every 3 months in addition to monitoring hervital signs, developmental status, virilization signs, puberty status, and side effects of treatment. Her weight increases according to the growth curve, indicating sufficient nutritional status. Her electrolyte level appears normal; however, the testosterone level is still higher than normal. She is currently being treated with hydrocortisone. We recommend monitoring the patient's 17-OHP, electrolyte, and testosterone levels every 3 months.