Tojo K, Ichinose M, Nakayama M, Yamamoto H, Hasegawa T, Kawaguchi Y, Sealfon S C, Sakai O
Second Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan.
Endocr J. 1995 Jun;42(3):367-76. doi: 10.1507/endocrj.42.367.
The association of familial hypogonadism with progressive cerebellar ataxia is only rarely encountered, and the exact link between the symptoms remains unknown. We report here two sisters presenting with Holmes type cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal degeneration recently diagnosed as Boucher-Neuhäuser syndrome. There was consanguinity between the parents of the affected individuals and the condition seemed to be inherited as an autosomal recessive defect. On endocrinological examinations, in both cases, the responses of LH and FSH to LH-RH (100 micrograms) were impaired even after repetitive stimulation with LH-RH (400 micrograms, 7 days), suggesting that the hypogonadism was due to a primary pituitary disturbance. Impaired GH responses to GRF (100 micrograms) and insulin-induced hypoglycemia (0.1 U/kg) were also noted. The two sisters shared an almost identical clinical and endocrinological picture. Their karyotypes were 46, XX. They had been treated for primary and secondary amenorrhea at the age of 20 years and neurological problems had started at the age of 30 years. This unique family displays clinical evidence of a possible common mechanism responsible for a progressive hypothalamo-pituitary and cerebellar impairment of late onset.
家族性性腺功能减退与进行性小脑共济失调的关联极为罕见，症状之间的确切联系尚不清楚。我们在此报告两姐妹，她们患有霍姆斯型小脑共济失调、低促性腺激素性性腺功能减退和视网膜脉络膜变性，最近被诊断为布歇 - 诺伊豪泽综合征。受影响个体的父母有血缘关系，这种病症似乎以常染色体隐性缺陷的方式遗传。在内分泌检查中，两例患者即使在接受促黄体生成素释放激素（400微克，7天）重复刺激后，促黄体生成素（LH）和促卵泡生成素（FSH）对促黄体生成素释放激素（100微克）的反应仍受损，这表明性腺功能减退是由于原发性垂体功能障碍所致。还注意到生长激素（GH）对生长激素释放因子（100微克）和胰岛素诱导的低血糖（0.1单位/千克）的反应受损。这两姐妹的临床和内分泌表现几乎相同。她们的核型为46，XX。她们在20岁时因原发性和继发性闭经接受治疗，30岁时开始出现神经问题。这个独特的家族展示了可能存在的共同机制的临床证据，该机制导致迟发性进行性下丘脑 - 垂体和小脑损害。
