Perrault syndrome

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Hypergonadotropic hypogonadism

Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.

Total: 1

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PMID (PMCID)
11170090	MIXED_SAMPLE	Adult
	New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.
	Amor DJ, Delatycki MB, Gardner RJ, Storey E. Am J Med Genet. 2001;99(1):29-33.
	The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of Perrault syndrome, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism.