Raygorodskaya N Yu, Novikova E P, Tyulpakov A N, Kareva M A, Nikolaeva N A, Bolotova N V
Saratov State Medical University by V.I. Rasumovskiy.
Endocrinology Research Centre; Genetic Research Centre by N.P.Bochkov.
Probl Endokrinol (Mosk). 2021 Sep 26;67(5):53-57. doi: 10.14341/probl12749.
11β-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11β-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11β-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.
11β-羟化酶缺乏症是一种罕见的常染色体隐性疾病，由CYP11B1基因的致病性突变导致肾上腺皮质类固醇生成受损引起。主要临床表现由皮质醇缺乏、促肾上腺皮质激素（ACTH）过度分泌、雄激素分泌过多以及11-脱氧皮质酮蓄积决定，后者会导致动脉高血压的发生。在诊断过程中，考虑患者的种族很重要，因为不同种族之间该病的发病率和突变流行情况有所不同。本文介绍了一名突厥族裔患者因CYP11B1基因复合杂合突变导致11β-羟化酶缺乏症的临床病例。该病例展示了11β-羟化酶缺乏症的临床表现及并发症发展情况，以及21-羟化酶缺乏症患者的鉴别诊断阶段。
