Camurati-Engelmann disease in conjunction with hypogonadism.
OBJECTIVE
To report a case of Camurati-Engelmann disease (CED) in conjunction with hypogonadism, an association that has not been previously described.


METHODS
We present the clinical, laboratory, and histopathologic features of our case. In addition, we review the molecular genetics of CED.


RESULTS
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.


CONCLUSIONS
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.
Gupta
Shaili
S
Division of Internal Medicine and Endocrinology, Union Memorial Hospital, 201 East University Parkway, Baltimore, MD 21218, USA.
Cheikh
Issam E
IE
D001481:Basal Metabolism; D001772:Blood Cell Count; D003966:Camurati-Engelmann Syndrome / Q000097:blood / Q000150:complications* / Q000000981:diagnostic imaging / Q000652:urine; D006728:Hormones / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications* / Q000652:urine; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D013902:Radiography, Thoracic; D013737:Testis / Q000166:cytology / Q000648:ultrastructure; D014057:Tomography, X-Ray Computed
D006728:Hormones