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.


METHODS
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.
Vakili
Rahim
R
Department of Pediatric Endocrinology and Metabolism, Emam Reza Hospital, Mashad University of Medical Sciences, Mashad, Iran. r-vakili@mums.ac.ir
Jalali
Farzad
F
D000293:Adolescent; D002973:Cleidocranial Dysplasia / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000000981:diagnostic imaging; D011628:Puberty, Delayed / Q000000981:diagnostic imaging / Q000209:etiology*; D014057:Tomography, X-Ray Computed