Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.
A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.
D000328:Adult; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome