Bhatia E, Shukla R, Gupta R K, Misra U K
Department of Endocrinology, Sanjay Gandhi Post Graduate Institute, Lucknow, U.P., India.
J Endocrinol Invest. 1993 Sep;16(8):639-42. doi: 10.1007/BF03347686.
Degenerative spinocerebellar ataxia has a rare association with hypogonadotropic hypogonadism. In this report we present the results of the detailed endocrine evaluation and magnetic resonance imaging in one such patient. A 20-year-old male with progressive cerebellar ataxia, hypogonadism, and short stature was investigated. Basal testing revealed hypogonadotropic hypogonadism (LH < 5 mU/L, FSH < 5 mU/L, testosterone 2.5 nM/L). There was no rise in LH after stimulation with LHRH, peak LH level being < 5 mU/L. Insulin hypoglycemia testing was consistent with GH deficiency, with peak GH being 3.2 mU/L. On TRH stimulation, there was no significant rise in prolactin, though the TSH response was normal. Magnetic resonance imaging revealed cerebellar atrophy. The anterior pituitary was atrophic, with a height of 1.4 mm. The posterior pituitary and the pituitary stalk were normal in size and position. This patient with degenerative spinocerebellar ataxia had multiple pituitary hormone deficiencies. The results of our endocrine evaluation and MR imaging lead us to believe that these deficits may result from a lesion at the level of the pituitary gland.
退行性脊髓小脑共济失调与低促性腺激素性性腺功能减退的关联罕见。在本报告中，我们展示了对一名此类患者进行详细内分泌评估及磁共振成像的结果。对一名患有进行性小脑共济失调、性腺功能减退及身材矮小的20岁男性进行了调查。基础检测显示为低促性腺激素性性腺功能减退（促黄体生成素<5 mU/L，促卵泡生成素<5 mU/L，睾酮2.5 nM/L）。用促性腺激素释放激素刺激后促黄体生成素未升高，促黄体生成素峰值水平<5 mU/L。胰岛素低血糖试验结果符合生长激素缺乏，生长激素峰值为3.2 mU/L。促甲状腺激素释放激素刺激试验中，催乳素无明显升高，不过促甲状腺激素反应正常。磁共振成像显示小脑萎缩。垂体前叶萎缩，高度为1.4 mm。垂体后叶及垂体柄大小和位置正常。这名患有退行性脊髓小脑共济失调的患者存在多种垂体激素缺乏。我们的内分泌评估及磁共振成像结果使我们认为这些缺陷可能源于垂体水平的病变。
