Baskent University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey.
Mehmet Ali Aydınlar University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey.
Endocrine. 2024 Aug;85(2):916-925. doi: 10.1007/s12020-024-03799-z. Epub 2024 Apr 8.
Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide.
The medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers.
Among 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 ± 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 ± 11.2 (minimum-maximum: 17-67). More patients in the nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients.
Our findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.
先天性肾上腺皮质增生症（CAH）是一组影响肾上腺类固醇生成的遗传性疾病，呈常染色体隐性遗传模式。该疾病的临床表现和生化表现多种多样，从不同程度的外生殖器异常到危及生命的肾上腺皮质功能减退症不等。本多中心研究旨在确定全国范围内 CAH 成年患者的人口统计学、生化、临床和遗传特征，以及当前状况。
研究评估了 19 家成人内分泌诊所的 223 例各种形式 CAH 患者的病历。各中心填写并寄回一份询问所有形式 CAH 患者人口统计学、病因学和遗传（如有）数据的表格。
在 223 例患者中，181 例（81.16%）为 21-羟化酶缺乏症（21OHD），27 例（12.10%）为 11-β-羟化酶缺乏症（110HD），13 例（5.82%）为 17-羟化酶缺乏症（17OHD），2 例（0.89%）为 3-β-羟类固醇脱氢酶缺乏症。在我国的系列中，21OHD 是最常见的 CAH 形式。在我们的队列中，有 102 例（56.4%）经典型和 79 例（43.6%）非经典型 210HD 病例。经典 CAH 患者的年龄为 24.9±6.1（最小-最大：17-44），而非经典 CAH 患者的年龄为 30.2±11.2（最小-最大：17-67）。非经典 CAH 组中更多的患者已婚并育有子女。54 例（78.3%）经典 CAH 女性和 42 例（77.8%）非经典 CAH 女性接受了生殖器重建手术，她们均未生育。32 例（50.8%）非经典 CAH 患者存在同质 CYP21A2 基因突变，31 例（49.2%）存在异质基因突变。V281L 病理变异是最常见的突变，在 35 例（55.6%）非经典 21OHD 患者中发现了该变异。
除了 110HD 和 17OHD 的频率较高外，我们的发现与当前文献一致，这可能归因于未识别的遗传原因。对 CAH 病例进行新的分类，而不是经典型和非经典型，可能会有所帮助，因为该疾病表现出较大的临床和生化连续性。应告知受影响的病例他们可能面临的并发症。研究得出结论，更好地了解 CAH 患者的临床特征可以改善日常实践中对该疾病的管理。
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