Endocrine Abstracts

Introduction: Spondyloepiphyseal dysplasia congenita (SEDC) is a rare congenital disease of skeletal system,which is characterized by short stature, shortage of trunk and mostly affect vertebral column and epiphysis of long bones. In this case report, we aimed to represent a patient complaining of short stature and referred to our hospital,who was detected to have an early onset osteoporosis accompanied by proximal femoral aplasia; in the light of literature.

Case: A 21 years old female, referred to our hospital since she was complaining of short stature. According to this first assessment, her height was 125.7 cm, weight 35.7 kg and had a pelvic deformity. By performing a skeletal scanning in that period;a platispondilia like appearance in the vertebral column, an increase in lumber lordosis,disappearance of both femoral heads,shortening of femoral neck, lateral subluxation of proximal femur were detected and bilateral femoral osteotomy and a fixation were performed respectively. In the physical examination we noticed coxa vara, scoliosis and has a flattened face. The biomedical parameters are all summarized. In the skeletal examination we noticed deformation and stabilization materials in the femur heads and counter rotation developed in cervical axis which was not exist previously, mild loss of intervertebral disc height in C3, C4, C5, C6. We calculated lumbal total Z score as −3.2. It was thought that the reason of premenopausal osteoporosis was SEDC. We prescript teriparatide because of her age and high grade of osteoporosis.

Discussion: Although osteoporosis was reported in Spondiloepiphyseal dysplasia tarda cases, we did not notice any report mentioning about the relationship between SEDC and osteoporosis; in the literature. As a conclusion, skeletal dysplasia which is mostly presented with short stature, should be in mind as one of the prediagnosis in any case of early onset osteoporosis with short stature.