Hazard J, Rozenberg I, Perlemuter L, Kestenbaum S, Vendrely E, Raoul O, Fiet J, Villete J M
Acta Endocrinol (Copenh). 1986 Dec;113(4):593-7. doi: 10.1530/acta.0.1130593.
A 25 year old man presented hypogonadotropic hypogonadism with complete anosmia (Kallman's syndrome). His chromosomic type was 47 XXY (Klinefelter's syndrome). Clinical findings were: height 183 cm, weight 62 kg, increased length of lower limbs, P2-A2 pilosity and micropenis. Only a left testis was present (1.5-1.5 cm). Bone age was 15. Testicular biopsy showed that the signs were more related to the gonadotropic deficit than to the gonadal dysgenesis; tubular hyalinization was not observed. Plasma levels of testosterone and oestradiol were very low. Plasma gonadotropin levels were below normal ranges and did not respond to an infusion test of GnRH. GnRH was administered iv every 90 min for 3 weeks by an auto syringe infusion pump and induced a pulsatile response of FSH and LH. Plasma levels of testosterone and oestradiol were unaffected. It may be concluded that the results of pulsatile injection of GnRH confirmed in this patient a unique association of Kallmann's syndrome with complete 47 XXY Klinefelter's syndrome.
一名25岁男性表现为低促性腺激素性性腺功能减退伴完全性嗅觉缺失（卡尔曼综合征）。其染色体核型为47 XXY（克兰费尔特综合征）。临床检查结果如下：身高183厘米，体重62千克，下肢长度增加，耻骨联合至肛门距离毛发增多，阴茎短小。仅存在左侧睾丸（1.5 - 1.5厘米）。骨龄为15岁。睾丸活检显示，体征更多与促性腺激素缺乏有关，而非性腺发育不全；未观察到小管玻璃样变。睾酮和雌二醇的血浆水平非常低。促性腺激素的血浆水平低于正常范围，且对GnRH输注试验无反应。通过自动注射器输注泵每90分钟静脉注射GnRH，持续3周，诱导出FSH和LH的脉冲式反应。睾酮和雌二醇的血浆水平未受影响。可以得出结论，该患者GnRH脉冲注射的结果证实了卡尔曼综合征与完全性47 XXY克兰费尔特综合征的独特关联。
