TY - JOUR
T1 - A family with Camurati-Engelman disease
T2 - The role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands
AU - Toumba, Meropi
AU - Neocleous, Vassos
AU - Shammas, Christos
AU - Anastasiadou, Violetta
AU - Allgrove, Jeremy
AU - Phylactou, Leonidas A.
AU - Skordis, Nicos
PY - 2013/11
Y1 - 2013/11
N2 - Objectives: Camurati-Engelmann disease (CED) is a rare form of progressive diaphyseal dysplasia as a result of mutations in the transforming growth factor gene TGFbeta1 on chromosome 19q13.1-q13.3. Endocrine complications such as osteoporosis, vitamin D deficiency, delayed puberty, and hypogonadotrophic hypogonadism may be present. Methods: Genetic analysis of the TGFbeta1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia, and menstrual irregularity. Results: The patient responded well to prednisone 5 mg/kg/day, as well as calcium and vitamin D supplements. Conclusions: The role of p.R218C in TGFbeta1 on the mechanism of the disease, and the complications of it in bones and endocrine glands, remains unclear. Early recognition as well as a detailed understanding of the pathogenesis of the disease are important for future treatment options and a better quality of life of such patients.
AB - Objectives: Camurati-Engelmann disease (CED) is a rare form of progressive diaphyseal dysplasia as a result of mutations in the transforming growth factor gene TGFbeta1 on chromosome 19q13.1-q13.3. Endocrine complications such as osteoporosis, vitamin D deficiency, delayed puberty, and hypogonadotrophic hypogonadism may be present. Methods: Genetic analysis of the TGFbeta1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia, and menstrual irregularity. Results: The patient responded well to prednisone 5 mg/kg/day, as well as calcium and vitamin D supplements. Conclusions: The role of p.R218C in TGFbeta1 on the mechanism of the disease, and the complications of it in bones and endocrine glands, remains unclear. Early recognition as well as a detailed understanding of the pathogenesis of the disease are important for future treatment options and a better quality of life of such patients.
KW - Bone
KW - Camurati-Engelmann
KW - Dysplasia
KW - TGFb
UR - http://www.scopus.com/inward/record.url?scp=84888104914&partnerID=8YFLogxK
U2 - 10.1515/jpem-2013-0150
DO - 10.1515/jpem-2013-0150
M3 - Article
C2 - 23846138
AN - SCOPUS:84888104914
SN - 0334-018X
VL - 26
SP - 1189
EP - 1195
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 11-12
ER -