Case Report

Hypergonadotropic Hypogonadism in a 3-Year-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome
Tsutomu Ogata^a, Tomonobu Hasegawa^a, Shinya Tamai^a, Seiji Sato^a, Yukihiro Hasegawa^b, Nobutake Matsuo<sup>a

a</sup> Department of Paediatrics, Keio University School of Medicine, Tokyo;
^b Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Japan

Address of Corresponding Author

Horm Res 1998;50:190-192 (DOI: 10.1159/000023272)

  Key Words

• Blepharophimosis
• Ovarian failure
• Hypergonadotropic hypogonadism
• Childhood

  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 (<0.27.2 mIU/ml) and follicle-stimulating hormone (7.144.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (1311 pg/ml). The results suggest that primary ovarian failure in type I BPES can take place in early childhood.

  Author Contacts

Tsutomu Ogata
Department of Paediatrics
Keio University School of Medicine
35 Shinanomachi, Shinjuku-ku, Tokyo 160 (Japan)
Tel. +81 03 3353 1211, Fax +81 03 5379 1978, E-Mail t-ogata@po.iijnet.or.jp

  Article Information

Received: Received: December 9, 1997
Accepted after revision: March 23, 1998
Number of Print Pages : 3
Number of Figures : 2, Number of Tables : 1, Number of References : 16