Title: Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity
Authors: Baets, Jonathan ×
Dierick, Ines
Groote, Chantal Ceuterick-de
Ende, Jenneke van den
Martin, Jean-Jacques
Geens, Karin
Robberecht, Wim
Nelis, Eva
Timmerman, Vincent
Jonghe, Peter De #
Issue Date: Feb-2009
Publisher: Pergamon Press
Series Title: Neuromuscular Disorders vol:19 issue:2 pages:172-175
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.
ISSN: 0960-8966
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Laboratory for Neurobiology (VIB-KU Leuven Center for Brain & Disease Research)
× corresponding author
# (joint) last author

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