Lecomte P, Lamisse F, Soutoul J H, Morel J J
Sem Hop. 1977 Jan 23;53(4):227-33.
The authors report a case of Steinert's disease in a woman and discuss the endocrine profile of this disease after giving an account of the criteria of diagnosis. Disorders of gonad function are mild in women, primary testicular atrophy is very frequent in man with reduction in 17-ketosteroids and testosterone. Thyroid function was normal but, in a few cases, a low fixation curve was found (our case) corrected by TSH stimulation. The frequency of cataract emphasizes the interest of this sign for detection. Diabetes, associated with hyperinsulinism, seemed more frequent than in a population without Steinert's disease. The pathogenesis of these endocrine disorders appears secondary and is ill explained if one considers it as a single disease. Better knowledge, no doubt linked to progress in biochemistry of normal and myopathic muscle, will help to explain the pathogenesis.
作者报告了一例女性斯坦纳特病病例，并在阐述诊断标准后讨论了该疾病的内分泌特征。女性性腺功能障碍较轻，男性原发性睾丸萎缩非常常见，伴有17 - 酮类固醇和睾酮减少。甲状腺功能正常，但在少数病例中，发现固定曲线较低（我们的病例），经促甲状腺激素刺激后得到纠正。白内障的发生率凸显了该体征在检测中的意义。与高胰岛素血症相关的糖尿病似乎比无斯坦纳特病的人群更为常见。这些内分泌紊乱的发病机制似乎是继发性的，如果将其视为单一疾病，则难以解释清楚。毫无疑问，随着正常肌肉和肌病肌肉生物化学研究的进展，更深入的了解将有助于解释其发病机制。
