Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism

https://doi.org/10.1016/0022-510X(90)90267-QGet rights and content

Abstract

The association of cerebellar ataxia and non-neurological syndromes is a well known phenomenon. A 20-year-old male patient presented with a longstanding and non-progressive ataxia. Magnetic resonance examination revealed marked inferior vermian-cerebellar hypoplasia. He also showed a hypogonadism with low serum gonadotropin and prolactin levels. Chronic pulsatile gonadotropin-releasing hormone (GnRH) administration resulted in a small non-pulsatile luteinizing hormone (LH) increase and no follicle-stimulating hormone (FSH) elevation. This hormonal pattern suggests a primary deficiency of the gonadotroph and lactotroph cells, rather than a hypothalamic lesion. This is the first report where cerebellar hypoplasia of congenital origin is associated with hypogonadotropic hypogonadism. Because of consanguinity, autosomal recessive transmission is considered.

References (20)

  • R. Altschul et al.

    Pallido-cerebello-olivary degeneration with eunuchoidism

    J. Nerv. Ment. Dis.

    (1956)
  • A.L. Barkan et al.

    Idiopathic hypogonadotropic hypogonadism in men: dependence of the hormone responses to gonadotropin-releasing hormone (GnRH) on the magnitude of the endogenous GnRH secretory defect

    J. Clin. Endocrinol. Metab.

    (1985)
  • A.L. Barkan et al.

    Isolated gonadotrope failure in the polyglandular autoimmune syndrome

    N. Engl. J. Med.

    (1985)
  • J. Berciano et al.

    Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency

    J. Neurol. Neurosurg. Psychiat.

    (1982)
  • E. Bernard-Weil et al.

    Sur un cas familial de dégénération spinocérébelleuse avec eunuchoidisme hypogonadotrophique

    Nouv. Presse Med.

    (1962)
  • G. Boitelle et al.

    Dégénération spinocérébelleuse, type Friedreich avec infantilisme hypogonadotrophique et sénélité précoce

    Ann. Med. Psychol.

    (1956)
  • B.J. Boucher et al.

    Familial ataxia, hypogonadism and retinal degeneration

    Acta Neurol. Scand.

    (1969)
  • A.E. Harding

    The Hereditary Ataxias and Related Disorders

  • G. Holmes

    A form of familial degeneration of the cerebellum

    Brain

    (1907)
  • D.A. Howell et al.
There are more references available in the full text version of this article.

Cited by (26)

  • Current and future genetic screening for male infertility

    2002, Urologic Clinics of North America
  • Non-progressive congenital ataxias

    1998, Brain and Development
View all citing articles on Scopus
View full text