[MIM 233 400, 614 926]

Very rare: < 1/1.000.000. Probably autosomal recessive transmission.

Association of:

-        ovarian dysgenesis in women (gonadal dysgenesis is not present in man): the diagnosis is done around the age of 20  years in  case of primary amenorrhea (or, more rarely, secondary amenorrhea)

-        sensorineural deafness of variable severity

And sometimes:

-        neurological disorders: progressive cerebellar ataxia, dyspraxia, polyneuropathy, mental deficit

-        short stature: < P3 in 50% of cases.

Differential diagnosis: Turner syndrome (XO).

Anesthetic implications:

according to the associated neurological disorders

References : 

Updated: October 2018