title: Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.
abstract: 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.
authors.affiliation: Service d'Endocrinologie Pédiatrique Hôpital Debrousse, Lyon, France.
authors.forename: M
authors.initials: M
authors.lastname: Nicolino
authors.forename: M
authors.initials: M
authors.lastname: Bost
authors.forename: M
authors.initials: M
authors.lastname: David
authors.forename: J L
authors.initials: JL
authors.lastname: Chaussain
mesh_terms: D000293:Adolescent; D016569:Blepharophimosis / Q000235:genetics*; D002648:Child; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009154:Mutation; D010053:Ovary / Q000002:abnormalities*; D010375:Pedigree
chemical_list: D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone