Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.
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.
Baets
Jonathan
J
Neurogenetics group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
Dierick
Ines
I
Groote
Chantal Ceuterick-de
CC
Ende
Jenneke van den
Jv
Martin
Jean-Jacques
JJ
Geens
Karin
K
Robberecht
Wim
W
Nelis
Eva
E
Timmerman
Vincent
V
Jonghe
Peter De
PD
D001369:Axons / Q000378:metabolism / Q000473:pathology; D001706:Biopsy; D015897:Comorbidity; D004252:DNA Mutational Analysis; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005836:Genitalia, Female / Q000002:abnormalities; D005838:Genotype; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000235:genetics*; D006066:Gonads / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008875:Middle Aged; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D012733:Sex Differentiation / Q000235:genetics; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D014855:Wallerian Degeneration / Q000235:genetics / Q000473:pathology / Q000503:physiopathology