Orphanet: 46,XY gonadal dysgenesis motor and sensory neuropathy syndrome

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46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Disease definition

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.

ORPHA:168563

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal, Infancy
ICD-10: Q56.1
ICD-11: LD2A.1
OMIM: 607080
UMLS: C5190810
MeSH: -
GARD: -
MedDRA: -

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46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

ORPHA:168563

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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