Challenges in the Diagnosis and Management of Congenital Adrenal Hyperplasia: A Case Report

Abstract

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder resulting in 21-hydroxylase enzyme deficiency. Nonclassical congenital adrenal hyperplasia is commonly found in adult patients with menstrual disorders, growth delays, secondary sexual characteristic abnormalities, or infertility. Diagnosing and managing CAH presents several challenges that can hinder patients from achieving therapeutic targets. Case Presentation: A 19-year-old female was referred from the Internal Medicine Polyclinic to the Reproductive Endocrinology and Infertility Polyclinic at Dr. Soetomo General Academic Hospital (RSUD Dr. Soetomo), presenting with primary amenorrhea and no breast development. Examination revealed signs of virilization, such as hirsutism, acne, and clitoromegaly. Ultrasound examination showed a hypoplastic uterus with normal ovaries. Elevated serum 17-OHP and testosterone from laboratory examination confirmed the diagnosis. Treatment with glucocorticoid replacement therapy using hydrocortisone, along with antiandrogenic contraceptive pills, showed therapeutic progress within six months. Discussion: Diagnosing CAH is challenging and often results in delays in patients receiving appropriate care. The primary therapeutic goal of CAH is to prevent hyperandrogenism and provide glucocorticoid replacement therapy to suppress ACTH activity. Long-term administration of hydrocortisone and contraceptive pills for puberty induction is a viable and accessible option. However, long-term therapy can lead to side effects that impact the patient. Conclusion: There are several challenges in diagnosing and managing congenital CAH. Long-term management should be personalized, prioritizing the patient's goals and maximizing the benefits of multidisciplinary therapy. KeyWords: Congenital adrenal hyperplasia, 21-hydroxylase, Disorder of sexual development.