Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle. Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management. Patients and Methods: Clinical data, steroid profiles by liquid chromatography-tandem mass spectrometry, and Sanger sequencing of the CYP17A1 gene was evaluated in 12 patients with 17OHD diagnosed between 2004 and 2020. Results: Median age of diagnosis was 13.9 (range: 0.04–29.5) years. Ten of 12 patients had 46,XY karyotype. Except for one boy with partial 17OHD, all patients had female external genitalia hence raised as females. The clinical presentation of 17OHD was earlier (median age: 7 years) in patients, who presented with severe hypertension, atypical genitalia, or positive family history (n = 6, 50%) than those without (median age: 15.3 years; p = 0.0005). The latter group presented with amenorrhea (n = 6, 50%). Steroid profile of patients uniformly showed a typical pattern of 17OHD regardless of the age at diagnosis. Serum gonadotropin concentrations were elevated in patients #x3e;12 years (n = 7), normal in pre-adolescents (n = 4), and low in a patient, who had a digenic inheritance of homozygous CYP17A1 and KISS1R mutations. Conclusions: Early clinical presentation and diagnosis in 17OHD are associated with symptomatic hypertension in both 46,XX and 46,XY patients or inadequate virilization of external genitalia in 46,XY partial 17OHD. In the absence of these, the clinical presentation is at late pubertal ages at which time amenorrhea and elevated gonadotropins are the hints for diagnosis.
Horm Res Paediatr

中文翻译：

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基因型性别和疾病严重程度决定了类固醇 17α-羟化酶/17,20-裂解酶缺乏症的临床表现时间

背景：类固醇 17α-羟化酶/17,20-裂合酶缺乏症 (17OHD) 的特征是性类固醇和皮质醇减少，以及盐皮质激素作用过度。低皮质醇血症的临床症状是微妙的。目的：评估17OHD患者的临床、生化和分子特征，以确定影响诊断时间和处理的因素。患者和方法：对 2004 年至 2020 年间诊断的 12 名 17OHD 患者的临床数据、液相色谱-串联质谱法的类固醇谱和CYP17A1基因的 Sanger 测序进行了评估。结果：诊断的中位年龄为 13.9（范围：0.04-29.5）岁。12名患者中有10名有46，XY核型。除一名患有部分 17OHD 的男孩外，所有患者的外生殖器均为女性，因此作为女性抚养。患有严重高血压、非典型生殖器或阳性家族史的患者（n = 6, 50%）比没有（中位年龄：15.3 岁；p = 0.0005)。后一组出现闭经（n = 6, 50%）。无论诊断时的年龄如何，患者的类固醇特征均显示出典型的 17OHD 模式。患者的血清促性腺激素浓度升高#x3e；12 岁（n = 7），在青春期前正常（n= 4)，并且在具有纯合CYP17A1和KISS1R突变的双基因遗传的患者中较低。结论： 17OHD 的早期临床表现和诊断与 46,XX 和 46,XY 患者的症状性高血压或 46,XY 部分 17OHD 的外生殖器男性化不足有关。如果没有这些，临床表现是在青春期后期，此时闭经和促性腺激素升高是诊断的提示。
儿科荷尔蒙