[Hypogonadotropic hypogonadism discovered in a patient with cerebellar ataxia].
We present the case of a male patient who presented progressive cerebellar ataxia since childhood who developed partial hypogonadotropic hypogonadism discovered when searching for a cause of low fecundity. The association of these two entities has been described in several rare syndromes: Homes ataxia, Boucher-Neuhauser syndrome and Richards-Rundle syndrome. The genetic background of these three syndromic associations defined solely on the basis of clinical manifestations remains to be elucidated, leading to uncertain diagnosis. The present case suggests the syndromic entity could be associated with autosomal recessive spinocerebellar ataxia with hypogonadotropic hypogonadism which includes several genotypic entities.
Robin
G
G
Service de Gynécologie Endocrinienne et Médecine de la Reproduction, Hôpital Jeanne de Flandre, CHRU de Lille, Avenue Eugène Avinée - 59037 Lille Cedex. geoffroy.robin@laposte.fr
Jonard
S
S
Vuillaume
I
I
Devos
D
D
Dewailly
D
D
D000328:Adult; D002524:Cerebellar Ataxia / Q000150:complications* / Q000235:genetics; D004576:Electromyography; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000235:genetics; D007248:Infertility, Male / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D013577:Syndrome