Gupta Shaili, Cheikh Issam E
Division of Internal Medicine and Endocrinology, Union Memorial Hospital, 201 East University Parkway, Baltimore, MD 21218, USA.
Endocr Pract. 2005 Nov-Dec;11(6):399-407. doi: 10.4158/EP.11.6.399.
To report a case of Camurati-Engelmann disease (CED) in conjunction with hypogonadism, an association that has not been previously described.
We present the clinical, laboratory, and histopathologic features of our case. In addition, we review the molecular genetics of CED.
CED is a rare autosomal dominant disorder of the skeleton, characterized by bilaterally symmetric, progressive dysplasia of the bones. The typical features of this disorder are hyperostotic and sclerotic changes in the bones, primarily of the extremities. Our patient, a 49-year-old male resident of a nursing home, presented with muscle weakness, waddling gait, bone pain, and increased fatigability, usual features of CED (which had been formally diagnosed when he was 8 years old). He also had hyponatremia, hyperkalemia, and almost undetectable serum testosterone. The gene responsible for CED has been mapped to the same locus as the gene for the synthesis of transforming growth factor (TGF-b 1). Mutations in the TGF b 1 gene have been identified in patients with CED. TGF-b 1 also has an important role in reproductive function, both during embryogenesis and in adulthood. It has predominant effects on steroidogenesis as well as spermatogenesis. We discuss the hormonal and histopathologic changes in our patient and postulate that the association of CED with hypogonadism could be attributable to the impaired regulation of gonadal growth and steroidogenesis, in which TGF-b 1 has an important role.
We propose that the association of CED with hypogonadism could be explained on the basis of a common underlying mutation in the TGF b 1 gene, leading to accumulation of excessive TGF-b 1.
报告1例卡穆拉蒂-恩格尔曼病（CED）合并性腺功能减退的病例，此前尚未有过这种关联的描述。
我们介绍了该病例的临床、实验室和组织病理学特征。此外，我们回顾了CED的分子遗传学。
CED是一种罕见的常染色体显性遗传性骨骼疾病，其特征为双侧对称、进行性骨发育异常。该疾病的典型特征是骨骼出现骨肥厚和硬化改变，主要累及四肢。我们的患者是一名49岁的养老院男性居民，表现出肌肉无力、鸭步、骨痛和易疲劳等症状，这些都是CED的常见特征（他8岁时被正式诊断为此病）。他还患有低钠血症、高钾血症，血清睾酮几乎检测不到。导致CED的基因已被定位到与转化生长因子（TGF-β1）合成基因相同的位点。在CED患者中已发现TGF-β1基因突变。TGF-β1在胚胎发生和成年期的生殖功能中也起着重要作用。它对类固醇生成以及精子发生具有主要影响。我们讨论了患者的激素和组织病理学变化，并推测CED与性腺功能减退的关联可能归因于性腺生长和类固醇生成调节受损，而TGF-β1在其中起重要作用。
我们认为，CED与性腺功能减退的关联可以基于TGF-β1基因的共同潜在突变来解释，该突变导致过量TGF-β1的积累。
