Hypogonadotropic hypogonadism associated with cleidocranial dysostosis

Background. Cleidocranial dysostosis (CCD) is a rare autosomal dominant disease with high penetrance and extremely variable expression. Some of the clinical manifestations include large, broad and short cranium with frontal and parietal bossing and a supraglabellar depression, facial part of the cranium relatively small with hypertelorism, absent or poorly defined superior and inferior clavicular depressions. Patient report: A 17 year-old girl with CCD was referred to the pediatric endocrinology and metabolism clinic because she failed to reach any signs of puberty.