Hypogonadotropic Hypogonadism and Anosmia (Kallmann's Syndrome) Associated with a Marker Chromosome

Abstract

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.

Olfaction in humans with special reference to odorous 16-androstenes: their occurrence, perception and possible social, psychological and sexual impact

“…Chromo¬ somal analysis of a patient with KS syndrome with anosmia, revealed a supernumary chromosome, the extragenetic material being identified as an accessory bisatellited marker chromosome which originated from either chromosome groups D or Gs. The chromosomal patterns of both parents were normal (Bergstrom et al 1987). …”