PDF(Pubmed)
Abstract：
Nonclassic congenital adrenal hyperplasia (NCAH) is a genetic disorder characterized by mutations in the genes encoding enzymes involved in cortisol production, most commonly the 21-hydroxylase enzyme. Unlike classic congenital adrenal hyperplasia (CAH), NCAH typically presents later in life with milder symptoms. The diagnosis of NCAH can be challenging due to its nonspecific symptoms and variable presentation. Early detection is crucial for timely intervention and management, particularly in families with a history of the condition. We report a case of NCAH in a patient from the Central-East Region of Tunisia, in whom the subsequent genetic testing revealed a Val281Leu (V281L) mutation in the CYP21A2 gene. A 26-year-old female presented with facial hirsutism and irregular menstrual cycles. Physical examination revealed mild hirsutism and laboratory tests showed elevated levels of testosterone and 17-hydroxyprogesterone (17-OHP). A provisional diagnosis of NCAH was made, subsequently confirmed by an adrenocorticotropic hormone (ACTH) stimulation test demonstrating an exaggerated 17-OHP response. Genetic testing revealed heterozygosity for the V281L mutation. Family testing showed the patient\'s mother to be homozygous and the father heterozygous for the mutation. This report highlights the importance of recognizing subtle symptoms of NCAH for early diagnosis and management. Genetic testing aids in confirming the diagnosis and identifying carriers within families. Treatment with glucocorticoids aims to suppress adrenal androgen production and manage symptoms. Regular follow-up is essential to monitor treatment response and adjust medication as needed. NCAH can present with subtle symptoms, necessitating a high index of suspicion for a proper diagnosis. Genetic testing plays a crucial role in confirming the diagnosis and identifying carriers within families. Early intervention and regular follow-up improve outcomes in affected individuals. This report also underscores the significance of genetic testing in the management of NCAH and highlights the need for increased awareness about this condition among healthcare providers.
摘要：
非经典先天性肾上腺增生（NCAH）是一种遗传性疾病，其特征是编码与皮质醇产生有关的酶的基因突变。最常见的是21-羟化酶。与经典的先天性肾上腺增生（CAH）不同，NCAH通常在以后的生活中出现较轻的症状。NCAH的诊断可能由于其非特异性症状和可变表现而具有挑战性。及早发现对于及时干预和管理至关重要,特别是在有病史的家庭中。我们报告了一名来自突尼斯中东部地区的NCAH患者，随后的基因检测显示CYP21A2基因中的Val281Leu（V281L）突变。一名26岁的女性出现面部多毛症和月经周期不规则。体格检查显示轻度多毛症，实验室检查显示睾丸激素和17-羟基孕酮（17-OHP）水平升高。对NCAH进行了临时诊断，随后通过促肾上腺皮质激素（ACTH）刺激试验证实，显示17-OHP反应过度。遗传检测揭示了V281L突变的杂合性。家庭测试显示患者的母亲是纯合的，父亲是杂合的。该报告强调了识别NCAH的细微症状对早期诊断和治疗的重要性。基因检测有助于确认诊断和识别家庭内的携带者。糖皮质激素治疗旨在抑制肾上腺雄激素产生并控制症状。定期随访对于监测治疗反应和根据需要调整药物至关重要。NCAH可以表现出微妙的症状，需要高度怀疑才能正确诊断。基因检测在确认诊断和识别家庭中的携带者中起着至关重要的作用。早期干预和定期随访可改善受影响个体的预后。该报告还强调了基因检测在NCAH管理中的重要性，并强调需要提高医疗保健提供者对这种情况的认识。
