[Ovarian insufficiency in blepharophimosis, ptosis, epicanthus inversus].
Combined blepharophimosis, ptosis, and epicanthus inversus (BPEI) represent a rare syndrome with autosomal dominant transmission. In affected females it can be associated with infertility. In this case report we could follow the development of primary ovarian failure in a 28-year old woman with BPEI by repeated hormone determinations. Endocrinological and morphological results give good evidence of increasing gonadotropin resistance on the ovarian level.
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003687:Dehydroepiandrosterone / Q000097:blood; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005799:Genes, Dominant; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000473:pathology; D007986:Luteinizing Hormone / Q000097:blood; D009154:Mutation; D010049:Ovarian Diseases / Q000235:genetics* / Q000473:pathology; D010053:Ovary / Q000473:pathology; D013577:Syndrome; D013739:Testosterone / Q000097:blood
D013739:Testosterone; D003687:Dehydroepiandrosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
Ovarialinsuffizienz bei Blepharophimose, Ptosis, Epicanthus inversus.