Peripheral neuropathy and 46XY gonadal dysgenesis: A heterogeneous entity |
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Authors: | Jonathan Baets Ines Dierick Chantal Ceuterick-de Groote Jenneke van den Ende Jean-Jacques Martin Karin Geens Wim Robberecht Eva Nelis Vincent Timmerman Peter De Jonghe |
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Institution: | 1. Department of Epidemiology and Preventive Medicine, Ehime University Graduate School of Medicine, Ehime 791-0295, Japan;2. Department of Public Health, Osaka City University Graduate School of Medicine, Osaka, Japan;3. Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;4. Department of Social and Preventive Epidemiology, School of Public Health, The University of Tokyo, Tokyo, Japan;5. Department of Neurology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan;6. Clinical Research Institute and Department of Neurology, Utano National Hospital, Kyoto, Japan;7. Department of Geriatrics and Neurology, Osaka City University Graduate School of Medicine, Osaka, Japan;8. Kawamura Hospital, Gifu, Japan;9. Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;10. Human Brain Research Center, Kyoto University Graduate School of Medicine, Kyoto, Japan;11. College of Healthcare Management, Fukuoka, Japan;12. Department of Public Health, Saitama Medical University Faculty of Medicine, Saitama, Japan;13. Department of Public Health, Jichi Medical University, Tochigi, Japan;1. Department of Neurology, Juntendo University Faculty of Medicine, Tokyo, Japan;2. Department of Neurology, Tokyo University, Tokyo, Japan;3. Department of Neurology, Fukushima University, Fukushima, Japan |
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Abstract: | Gonadal dysgenesis with normal male karyotype (46XY) is a sexual differentiation disorder. So far three patients have been reported presenting the association of 46XY gonadal dysgenesis with peripheral neuropathy. Examination of sural nerves revealed minifascicle formation in two of them. In one patient, a mutation was found in desert hedgehog homolog (Drosophila), a gene important in gonadal differentiation and peripheral nerve development.We studied neuropathological and molecular genetic aspects of a patient with 46XY gonadal dysgenesis and peripheral neuropathy.Examination of a sural nerve biopsy specimen revealed an axonal neuropathy with pronounced axonal loss, limited signs of axonal regeneration and no minifascicle formation. A normal male karyotype was found (46XY) without micro-deletions in the Y chromosome. No mutations were found in the sex determining region Y gene, peripheral myelin protein 22, Myelin Protein Zero, Gap-Junction protein Beta 1, Mitofusin 2 or desert hedgehog homolog.The absence of minifascicle formation and the absence of a mutation in desert hedgehog homolog in this patient with gonadal dysgenesis and peripheral neuropathy expand the clinical and genetic heterogeneity of this rare entity. |
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