ECE2021 Eposter Presentations Calcium and Bone (21 abstracts)
Severe hyperinsulinemia and osteoporosis in a lean patient with Jacobsen syndrome
Georgios Boutzios 1 , Sofia Chatzi 1 , Athina Karampela 1 , Myrto Miliou 1 , Loukia Koutsogeorgopoulou 1 , Eleni Koukoulioti 1 , Markos Psifis 2 & Androniki Drakou 2
1Medical School, National and Kapodistrian University of Athens, Pathophysiology, Athens, Greece; 2Laiko General Hospital, Orthopaedics, Athens, Greece
Introduction
Jacobsen syndrome (JS) is a rare gene disorder caused by a terminal deletion of the long arm of chromosome 11. The estimated prevalence of Jacobsen syndrome is 1/100.000 births. It is most commonly presented with psychomotor and physical growth retardation, dysmorphic facial features, thrombocytopenia or pancytopenia. It is also characterized by congenital heart defects, and kidney, gastrointestinal tract, genitalia, CNS and skeletal deformities.
Case presentation
We herein report an unusual case of a 19-year-old male, non-smoker, with a medical history of moderate cognitive disorder, facial deformities, lower limb skeletal malformation and hearing impairment, who was referred to the outpatient clinic due to severe osteoporosis and hyperinsulinemia. His BMI was 21.5 kg/m2. The OGTT showed glucose levels within normal range and increased insulin levels, 46.4 pmol/l and 238.8 pmol/l at time 0’ and 30’, respectively. Spine (L1–L4) and total body mass density were measured 0.875 g/cm2 and 0.877 g/cm2 with Z-score of –2.7 and –2.0, respectively, finding which documented the presence of severe osteoporosis. Thyroid and adrenal function tests, vitamin D and PTH levels, liver function tests, autoantibodies specific for celiac disease and 24-h urine calcium were within normal limits. A genetic analysis was performed and revealed a de novo deletion in 11q24.1-qter, compatible with JS. The patient was placed on bisphosphonates along with calcium and cholecalciferol supplementation as a treatment for his severe osteoporosis.
Conclusion
We present this case to alert the medical community on the possible association of Jacobsen syndrome with severe osteoporosis and hyperinsulinemia in a young male.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more