Cat-eye Syndrome with Isolated Idiopathic Hypogonadotropic Hypogonadism

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  • MATSUMOTO Ryusuke
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • SHIMIZU Chikara
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • NAGAI So
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • TANIGUCHI Satoshi
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • UMETSU Masaaki
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • KIMURA Yasunori
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • ATSUMI Toshiya
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • YOSHIOKA Narihito
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo
  • KUBO Mitsumasa
    Health Administration Center, Hokkaido University of Education, Sapporo
  • KOIKE Takao
    Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo

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Abstract

A 34-year-old Japanese man diagnosed as having cat-eye syndrome (CES) with isolated idiopathic hypogonadotropic hypogonadism (IHH) was treated at our university. He showed preauricular pits/tags, downward slanting palpebral fissures, ocular hypertelorism, and strabismus. However, ocular coloboma and anal atresia, major characteristic features of CES, were negative. Chromosomal analysis revealed malformation in chromosome 22 and eunuchoid features and a low grade development of secondary sexual characteristics were also evident. Endocrinological examinations revealed that this patient was in a state of isolated IHH. Although CES with IHH is extremely rare, endocrine disorders should be given due attention.

Journal

  • Internal Medicine

    Internal Medicine 44 (10), 1069-1073, 2005

    The Japanese Society of Internal Medicine

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