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J Med Genet. 1990 March; 27(3): 198–199.
PMCID: PMC1017005

Identical twins discordant for Kallmann's syndrome.


A 20 year old male patient presented with lack of sexual development. On examination he was eunuchoidal and hypogonadal, and olfactory function testing showed he was anosmic. Biochemical investigations proved he was hypogonadotrophic. Kallmann's syndrome was therefore diagnosed. His appearance was very different from his alleged identical twin who had undergone a normal puberty and had normal plasma testosterone and gonadotrophin levels. However, the twin was hyposmic. Genetic fingerprinting confirmed the twins were identical. Why Kallman's syndrome was incompletely expressed in one of them is unexplained. The parents and a normally menstruating sister had normal olfactory function.

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Selected References

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  • Santen RJ, Paulsen CA. Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. J Clin Endocrinol Metab. 1973 Jan;36(1):47–54. [PubMed]
  • Hermanussen M, Sippell WG. Heterogeneity of Kallmann's syndrome. Clin Genet. 1985 Aug;28(2):106–111. [PubMed]
  • Chang RJ, Davidson BJ, Carlson HE, Lu JK, Judd HL. Hypogonadotropic hypogonadism associated with retinitis pigmentosa in a female sibship: evidence for gonadotropin deficiency. J Clin Endocrinol Metab. 1981 Dec;53(6):1179–1185. [PubMed]
  • Genz A, Lö SS ner C, Krüger E. Eineiiges Zwillingspaar mit schizoformer Psychose und hypothalamisch bedingtem hypogonadotropen Hypogonadismus. Psychiatr Neurol Med Psychol (Leipz) 1987 Apr;39(4):209–215. [PubMed]
  • Kissel P, Andre JM. Maladie de Parkinson et anosmie chez deux jumelles monozygotiques. J Genet Hum. 1976 Jun;24(2):113–117. [PubMed]

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