COEXISTENCE OF OSTEOGENESIS IMPERFECTA AND KLINEFELTER’S SYNDROME
Atanasova I*, Borisova A-M, Kumanov P, Ivanova R, Diankov L
*Corresponding Author: Iliana Atanasova, M.D., Ph.D., Laboratory of Medical Genetics and Immunol-ogy, Clinical Center of Endocrinology, Medical University, “Damian Gruev” str. 6-8, Sofia-1303, Bulgaria; Tel.: +359-2-987-72-01; Fax: +359-2-987-41-45; E-mail: atanasova_meddia@abv.bg
page: 23

Abstract

Osteogenesis imperfecta (OI) and Klinefelter’s syndrome (KS) are genetically determined disorders that affect the skeletal system. Osteogenesis imperfecta is a heterogeneous group of usually autosomal, dominant diseases with a great variability of gene expression which suggests the role of unidentified factors that segregate independently and modulate the final phenotype. Kline­felter’s syndrome occurs in males with more than one X chromosome, which contains genes that determine skeletal structure.
We report a case in which both OI and KS were present. Our male proband had the clinical presentation of OI type I with 48 bone fractures, blue sclerae, hypermobile joints, dentinogenesis imperfecta, but normal hearing, was 175 cm in height and had eunuchoid proportions of the skeleton but no deformities. This phenotype differs from that of other members of his family who presented clinically as a mild form of autosomal dominant OI type I. His karyotype was 47 XXY. The patient was treated with biphosphonate and testosterone substitution which improved the clinical course of both diseases.
Key words: Osteogenesis imperfecta (OI) type I, Klinefelter’s syndrome (KS), Coexistence.




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