46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare genetic developmental defect during embryogenesis disorder characterized by partial (unilateral testis persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype and sensorimotor dysmyelinating minifascicular polyneuropathy which presents with numbness weakness exercise-induced muscle cramps sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma dysgerminoma gonadoblastoma) may develop from the gonadal tissue.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome?
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