Genetic disorder that causes that causes hypogonadotropic hypogonadism and an impaired sense of smell
Aetiology
- >20 gene mutations reported
- Inheritance pattern depends on mutation
- Occurs in males and females but higher incidence in males
Clinical presentation
- Hypogonadism
- Hyposmia/anosmia
- Isolated GnRh deficiency also associated with other abnormalities:
- Unilateral renal agenesis
- Red-green colour blindness
- Cleft lip/palate
- Bimanual synkinesis
Investigations
- Hormone testing
- Olfactory function testing
- Genetic testing
Management
- Hormone replacement therapy
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