Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism.
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.
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Department of Endocrinology, University of Antwerp, Belgium.
Van Vleymen
E
E
Parizel
P M
PM
Van Acker
K
K
Martin
M
M
Martin
J J
JJ
D000328:Adult; D001259:Ataxia / Q000209:etiology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D007987:Gonadotropin-Releasing Hormone / Q000627:therapeutic use; D006062:Gonadotropins / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000188:drug therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D011388:Prolactin / Q000097:blood
D006062:Gonadotropins; D007987:Gonadotropin-Releasing Hormone; D011388:Prolactin