Camurati-Engelmann disease in conjunction with hypogonadism.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
Shaili Gupta, Issam E Cheikh

Abstract

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 ho...Continue Reading

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Citations

Dec 10, 2013·Case Reports in Dentistry·Marília Ferreira CorreiaDenise Madalena Palomari Spolidorio
Nov 13, 2014·Iranian Red Crescent Medical Journal·Soo Fin LowChai Soon Ngiu
May 5, 2011·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Michael P WhyteSteven Mumm
Jul 9, 2009·Nature Medicine·Jameel IqbalMone Zaidi
Feb 6, 2019·Calcified Tissue International·Wim Van HulGeert Mortier
Jun 5, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Meropi ToumbaNicos Skordis
Jul 13, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Meropi ToumbaNicos Skordis
Feb 2, 2013·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Blazej MeczekalskiAlessandro Genazzani

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