Familial blepharophimosis: an uncommon marker of ovarian dysgenesis

We report on six young female patients from two families who were found to have a very rare form of ovarian failure. Hypogonadism is inherited with an ocular abnormality consisting of a congenital dysplasia of the eyelids. In one family inheritance is autosomal dominant and in the other it is a de novo mutation. The patients have no other dysmorphic features and are of normal intelligence. Plasma levels of follicle-stimulating and luteinizing hormones are significantly elevated. Examination of the internal genitalia by laparoscopy was performed in four cases with ovarian biopsy in one case; the results are compatible with gonadal dysgenesis. Cytogenetic studies indicate the absence of chromosomal defects.