Hypergonadotropic Hypogonadism in a 3-Year-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome
- 1 September 1998
- journal article
- case report
- Published by S. Karger AG in Hormone Research in Paediatrics
- Vol. 50 (3) , 190-192
- https://doi.org/10.1159/000023272
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.Keywords
This publication has 2 references indexed in Scilit:
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- An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX femaleJournal of Clinical Endocrinology & Metabolism, 1996