Lubinsky syndrome
Other Names[edit | edit source]
Hypogonadism cataract syndrome; Cataracts and testicular failure
Clinical features[edit | edit source]
This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. This is characterized by the association of hypergonadotropic and with onset during adolescence. It has been described in three brothers from a consanguineous family.
Symptoms[edit | edit source]
100% of people have these symptoms
- Clouding of the lens of the eye
80%-99% of people have these symptoms
- Absence of secondary sex characteristics
- Decreased fertility
- Delayed puberty
- Delayed skeletal maturation
- Increased circulating gonadotropin level
- Elevated gonadotropins
- Primary amenorrhea
- Secondary growth deficiency
30%-79% of people have these symptoms
- Recurrent fractures
- Decreased body height
- Elevated circulating follicle stimulating hormone level
- Hypogonadism
- Infertility
- Male hypogonadism
Inheritance[edit | edit source]
An autosomal recessive mode of transmission appears likely.
NIH genetic and rare disease info[edit source]
Lubinsky syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
