Bergstrom R W, Hansen K L, Clare C N, Katz M S
J Androl. 1987 Jan-Feb;8(1):55-60. doi: 10.1002/j.1939-4640.1987.tb02421.x.
A patient with hypogonadotropic hypogonadism and anosmia (Kallmann's syndrome) had an associated chromosomal abnormality. Evaluation of the hypothalamic pituitary axis showed undetectable basal LH and FSH and slight increases in both gonadotropins in response to GnRH. Augmented gonadotropin response to GnRH after serial subcutaneous injections of GnRH confirmed a hypothalamic defect. Additional endocrine tests failed to reveal other hormone dysfunctions. A supernumerary chromosome was detected by routine chromosome analysis. The extra genetic material was identified by differential cytogenetic banding procedures as an accessory bisatellited marker chromosome originating from either chromosome group D or G. Chromosome analyses of both parents were normal. Our results suggest that, in at least some cases, the Kallmann's phenotype may be associated with a chromosome abnormality.
一名患有低促性腺激素性性腺功能减退和嗅觉缺失（卡尔曼综合征）的患者伴有染色体异常。下丘脑 - 垂体轴评估显示基础促黄体生成素（LH）和促卵泡生成素（FSH）检测不到，且对促性腺激素释放激素（GnRH）反应时两种促性腺激素略有升高。连续皮下注射GnRH后促性腺激素对GnRH的反应增强，证实存在下丘脑缺陷。其他内分泌检查未发现其他激素功能障碍。通过常规染色体分析检测到一条额外染色体。通过差异细胞遗传学带型分析程序确定额外的遗传物质是一条源自D组或G组染色体的双随体标记染色体。双亲的染色体分析均正常。我们的结果表明，至少在某些情况下，卡尔曼综合征的表型可能与染色体异常有关。
