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Hypogonadotropic hypogonadism associated with cleidocranial dysostosis
1Department of Pediatric Endocrinology and Metabolism, Emam Reza Hospital, Mashad University of Medical Sciences, Mashad, Iran. r-vakili@mums.ac.ir
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.
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