Lubinsky syndrome

Other Names

Hypogonadism cataract syndrome; Cataracts and testicular failure

Clinical features

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

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

An autosomal recessive mode of transmission appears likely.

NIH genetic and rare disease info

• NIH info on Lubinsky syndrome

Lubinsky syndrome is a rare disease.

Lubinsky syndrome Resources
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