Apparent cortisone reductase deficiency:: A functional defect in 11β-hydroxysteroid dehydrogenase type 1
Apparent cortisone reductase deficiency:: A functional defect in 11β-hydroxysteroid dehydrogenase type 1
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DOI：
10.1210/jc.84.10.3570
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发表时间：
1999-10-01
影响因子：
5.8
通讯作者：
Connell, JMC
中科院分区：
文献类型：
--
作者：
Jamieson, A;Wallace, AM;Connell, JMC
一位36岁女性因月经过少、多毛和痤疮被转诊至内分泌诊所。她是多胸和超重与中央脂肪分布。血浆皮质醇正常，但肾上腺增大（CT扫描）。尿四氢可的松排泄率一直很高，增加了11 β-羟基类固醇脱氢酶1型（11 β-HSD 1）缺乏的可能性。此外，皮质醇和可的松的5 β-还原显著增强。所有皮质醇代谢产物的水平与地塞米松抑制正常，但口服醋酸可的松转化为血浆皮质醇延迟和低于正常与健康志愿者相比。这伴随着血浆可的松浓度高于正常水平的增加。因此，缺陷似乎是在11 β-HSD 1活性中，而不是在5 β-还原酶活性中。受试者的三个近亲没有表现出可比的异常，对病例的11 β-HSD 1基因的编码区和外显子/内含子边界的分析显示与共有序列没有差异。缺陷可能位于编码区之外。或者，一些其他遗传或获得性缺陷可能导致该酶系统的抑制。
A 36-yr-old woman was referred to the endocrine clinic for investigation of oligomenorrhea, hirsutism, and acne. She was plethoric and overweight with central fat distribution. Plasma cortisol was normal, but her adrenal glands were enlarged (CT scan). Urinary tetrahydrocortisone excretion rate was consistently high, raising the possibility of 11 beta-hydroxysteroid dehydrogenase type 1 (11 beta-HSD1) deficiency. In addition, 5 beta- reduction of cortisol and cortisone was markedly enhanced. The levels of all cortisol metabolites were suppressed normally with dexamethasone, but conversion of oral cortisone acetate to plasma cortisol was delayed and subnormal compared with that of healthy volunteers. This was accompanied by a larger than normal increase in plasma cortisone concentration. Thus, the defect appears to be in 11 beta-HSD1 activity and not in 5 beta-reductase activity. Three close relatives of the subject showed no comparable abnormalities, and analysis of the coding region and exon/intron boundaries of the 11 beta-HSD1 gene of the case revealed no differences from the consensus sequence. The defect may lie outside the coding region. Alternatively, some other inherited or acquired defect may lead to inhibition of this enzyme system.