Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome

This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.

Epidemiology

It has been described in two brothers born to nonconsanguineous parents of Caucasian origin.

Clinical description

EEG findings were normal in both cases.

Genetic counseling

Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded.