Hypergonadotropic Hypogonadism in a 3-Year-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome
Tsutomu Ogata, Tomonobu Hasegawa, Shinya Tamai, Seiji Sato, Yukihiro Hasegawa, Nobutake Matsuo
Abstract
Tsutomu Ogata, Tomonobu Hasegawa, Shinya Tamai, Seiji Sato, Yukihiro Hasegawa, Nobutake Matsuo
Abstract
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.
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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.
Key concepts: Blepharophimosis, Hypergonadotropic hypogonadism, Ptosis, Premature ovarian failure, Medicine, Luteinizing hormone, Premature Menopause, Internal medicine