Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome.
We report on ovarian dysfunction in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). A gonadotropin releasing hormone test showed hyperresponses of luteinizing hormone (<0.2-->7.2 mIU/ml) and follicle-stimulating hormone (7.1-->44.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (13-->11 pg/ml). The results suggest that primary ovarian failure in type I BPES can take place in early childhood.
Ogata
T
T
Department of Paediatrics, Keio University School of Medicine, Tokyo. t-ogata@po.iijnet.or.jp
Hasegawa
T
T
Tamai
S
S
Sato
S
S
Hasegawa
Y
Y
Matsuo
N
N
D016569:Blepharophimosis / Q000150:complications* / Q000235:genetics; D001763:Blepharoptosis / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D017353:Gene Deletion; D006062:Gonadotropins / Q000097:blood*; D006801:Humans; D007006:Hypogonadism / Q000097:blood* / Q000150:complications* / Q000503:physiopathology; D007986:Luteinizing Hormone / Q000097:blood; D010053:Ovary / Q000503:physiopathology; D013577:Syndrome
D006062:Gonadotropins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone