Challenges in Adolescent and Adult Males With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
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Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in severe cortisol and aldosterone deficiency, leading to persistent adrenal stimulation and excess production of ACTH and adrenal androgens. This review examines the clinical considerations and challenges of balancing under- and overtreatment with glucocorticoids in adolescent and adult male individuals with CAH. Adolescents face many unique challenges that can hinder adherence, hormonal control, and transition to independence. Thus, patient education is critical during adolescence, especially in poorly controlled postpubertal males who lack obvious symptoms and may not recognize the long-term consequences of nonadherence, such as reduced final height, reduced reproductive health, poor bone health, obesity, and hypertension. The risk of subfertility/infertility begins early, especially in males with poor hormonal control, who often have reduced sperm counts, small testes, and benign tumors called testicular adrenal rest tumors (TARTs). Even males with good hormonal control can experience subfertility/infertility due to TARTs. In addition, several factors such as hypogonadism and long-term glucocorticoid treatment can predispose males with CAH to poor bone health (eg, low bone mineral density, increased risk of osteoporosis/osteopenia and fractures) and metabolic syndrome (eg, obesity, insulin resistance, dyslipidemia, and hypertension). Regular monitoring is recommended, with glucocorticoid dose optimization and prophylactic treatment to maximize future fertility potential and protect long-term bone health. Early implementation of lifestyle interventions and medical treatment are needed to address cardiometabolic consequences.