Unusual cause of short stature.
A 24-year-old man evaluated for paresthesias and short stature was found to be hypocalcemic on initial presentation. Further evaluation showed that he had a low-normal parathormone level by amino-terminal assay, medullary stenosis of the long bones, and multiple ophthalmologic abnormalities. The remainder of his pituitary function, including growth hormone response to insulin-induced hypoglycemia, was normal. As no family history of similar findings was evident, a sporadic case of Kenny's or Kenny-Caffey syndrome was diagnosed. He became normocalcemic in response to vitamin D and calcium carbonate therapy. The results of testing in this patient and the findings in other patients previously described with the Kenny-Caffey syndrome are reviewed.
D000328:Adult; D000747:Anemia, Hypochromic / Q000188:drug therapy; D004392:Dwarfism / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006059:Gonadal Dysgenesis / Q000473:pathology; D013006:Growth Hormone / Q000502:physiology; D006801:Humans; D006956:Hyperopia / Q000473:pathology; D006958:Hyperostosis, Cortical, Congenital / Q000503:physiopathology*; D006996:Hypocalcemia / Q000503:physiopathology / Q000628:therapy; D007011:Hypoparathyroidism / Q000150:complications; D008297:Male; D008850:Microphthalmos / Q000473:pathology; D010281:Parathyroid Hormone / Q000097:blood; D013577:Syndrome; D013737:Testis / Q000002:abnormalities; D013997:Time Factors
D010281:Parathyroid Hormone; D013006:Growth Hormone