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Kallmann's syndrome

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A congenital disorder of hypothalamic function and reduced pituitary gonadotropic activity with resulting association of hypogonadism, eunuchoidism and anosmia. Other clinical abnormalities observed include retinitis pigmentosa, colour blindness, midline cranial and intracranial defects, hypertension, obesity, cryptorchidism, osteopenia, mild neurosensory hearing loss, gynaecomastia, diabetes mellitus, cleft lip or palate, and mental retardation. Anosmia is caused by degeneration of the olfactory bulba. Both sexes affected; prevalent in males (3:1). Most cases autosomal dominant, but recessive and X-linked cases are known. Possibility of female carrier.

The syndrome is sometimes considered as three separate entities, named Kallmann syndromes 1, 2, and 3.

As early as in 1856 Aureliano Maestre de San Juan described the autopsy findings in a 40 year old man with absent olfactory lobes, infantile testicles, very small penis and no pubic hair. A few years later an Austrian journal published the findings by the Austrian pathologist Richard Ladislaus Heschl (1824-1881) who made a similar discovery in a 45 year old man who also had small genitalia and very little body or pubic hair.

In 1914, Franz Weidenreich (1873-1948) undertook post mortem studies in 10 persons with anosmia, 3 of whom had hypogonadism, and suggested that these problems might be syndromically associated. Kallmann and his colleagues in 1944 reported three different families in which a majority of the family members had a syndrome, or certain symptoms of a syndrome, consisting of missing puberty (eunuchoidism), lack of the sense of smell (anosmia), and colour blindness. Some of the family members were also mentally retarded. They drew attention to the genetic aetiology of the disorder. In 1954 De Morsier documented 14 affected persons and confirmed that the anosmia was the consequence of agenesis of the olfactory lobes.

We thank Patrick Jucker-Kupper, Switzerland, for information submitted.


  • A. Maestre de San Juan:
    Teratolagia: falta total de los nervios olfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril.
    El siglo medico, Madrid. 1856: 211.
  • F. Weidenreich:
    Über partiellen Riechlappendefect und Eunuchoidismus beim Menschen.
    Zeitschrift fur Morphologie und Anthropologie, Stuttgart, 1914, 18: 157.
  • F. J. Kallmann, W. A. Schönfeld, S. E Barrera:
    The genetic aspects of primary eunuchoidism.
    American Journal of Mental Deficiency 1943-1944, 48: 203-236.
  • G. De Morsier:
    Études sur les dysraphies crânio-encephaliques. I. Agénésie des lobes olfactifs (télencéphaloschizis latéral) et des commissures calleuse et antérieure (télencéphaloscizis median). La dysplasie olfacto-génitale.
    Schweizer Archiv für Neurologie und Psychiatrie, Zurich, 1954, 74: 309-361.
  • G. De Morsier:
    Median cranioencephalic dysraphias and olfactogenital dysplasia.
    World Neurology, Minneapolis, 1962, 3: 485-506.
  • G. Gauthier:
    La dysplasie olfacto-génitale (agénésie des lobes olfactifs avec absence de dévelopment gonadique à la puberté.
    Acta neurovegetativa, Wien, 1960, 21: 345-394.

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