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      Hypergonadotropic Hypogonadism in a 3-Year-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome

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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.

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          Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility.

          Follicle stimulating hormone (FSH) is a member of the glycoprotein hormone family that includes luteinzing hormone (LH), thyroid stimulating hormone, and chorionic gonadotropin. These heterodimeric hormones share a common alpha subunit and differ in their hormone-specific beta subunit. The biological activity is conferred only by the heterodimers. FSH and LH are synthesized in the same cells of the pituitary, the gonadotrophs. FSH receptors are localized to Sertoli cells of the testes and granulosa cells of the ovary. Minimal data has been accumulated so far involving human mutations in the FSH beta, LH beta, or the gonadotropin receptor genes. There are no known mouse strains with mutations in the FSH beta gene. To generate animal models for human diseases involving the gonadotropin signal transduction pathway, we produced mice deficient in the FSH beta subunit and therefore in FSH using ES cell technology. FSH-deficient females are infertile due to a block in folliculogenesis prior to antral follicle formation. Although FSH was predicted to be necessary for spermatogenesis and Sertoli cell growth in males, FSH-deficient males are fertile despite having small testes. Our findings have important implications for male contraceptive development in humans.
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            An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female


              Author and article information

              Horm Res Paediatr
              Hormone Research in Paediatrics
              S. Karger AG
              September 1998
              08 October 1998
              : 50
              : 3
              : 190-192
              a Department of Paediatrics, Keio University School of Medicine, Tokyo; b Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children’s Hospital, Kiyose, Japan
              23272 Horm Res 1998;50:190–192
              © 1998 S. Karger AG, Basel

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              Page count
              Figures: 2, Tables: 1, References: 16, Pages: 3
              Case Report


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