Distribution of androgen receptors in bulbospinal muscular atrophy

Clinical Aspects of CAG Repeat Diseases

“…Testosterone levels are usually normal but may be slightly low, and estrogen and FSH levels are commonly (but not always) elevated (143). Decreased androgen binding capacity (25, 89,173) and decreased androgen receptors in scrotal skin (94) have been reported, although a later study suggests that androgen receptors are present in muscle fibers of affected patients (98). Although diabetes was reported in several early cases, it appears not to be an integral part of the disease.…”

“…Most affected individuals eat ravenously but lose weight, particularly in the mid to late stages of the disease. The basis for weight loss has not been fully explained; it may relate in part to increased caloric requirements, psychosocial factors, or to the degenera- 89,98,104,111,120,165,178,184,186) tive nervous system disease (75, 107,110). It has been noted that patients who are overweight at the time of the diagnosis of HD progress more slowly than patients who are not, but whether this is a cause or effect of the disease is unknown (100).…”