Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity
| Autor: | Karin Geens, Jenneke van den Ende, Chantal Ceuterick-de Groote, Jean-Jacques Martin, Jonathan Baets, Wim Robberecht, Peter De Jonghe, Vincent Timmerman, Ines Dierick, Eva Nelis |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Wallerian degeneration endocrine system Sex Differentiation Genotype Biopsy DNA Mutational Analysis Axonal loss Gene Dosage Neural Conduction Gonadal dysgenesis Sural nerve Comorbidity Biology Sural Nerve Internal medicine Peripheral myelin protein 22 medicine Humans Genetic Predisposition to Disease Peripheral Nerves Gonads Genetics (clinical) Gonadal Dysgenesis 46 XY Sexual Differentiation Disorder Myelin protein zero Peripheral Nervous System Diseases Genitalia Female Middle Aged medicine.disease Axons Peripheral neuropathy Endocrinology Neurology Karyotyping Pediatrics Perinatology and Child Health Female Neurology (clinical) Human medicine Wallerian Degeneration |
| Zdroj: | Neuromuscular disorders |
| ISSN: | 0960-8966 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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