ECE2014 Poster Presentations Clinical case reports Thyroid/Others (72 abstracts)
1Endocrine Unit, Universitiy Hospital of Badajoz, Badajoz, Extremadura, Spain; 2Genetic Unit, University Hospital of Badajoz, Badajoz, Extremadura, Spain.
Introduction: Obesity prevalence is growing every year. In most cases, origin is exogenous, a mixture of sedentary and overeating. However, some patients are trend to develop obesity caused by their genetics and other illness.
Case report: A 62-year-old women with diabetes type 2, anxiety and osteoporosis was remitted to our center for obesity. She had been obese since childhood, with very low level of activity and snacking trend. On physical examination she presented 161 cm of height, 95.2 kg of weight, and BMI of 36.73 kg/m2 with the remainder examination normal. A low calories diet and physical activity were prescribe. With suspected non-syndrome obesity she was referred to Genetic Unit. A mutation on leptin receptor gene was found: LEPR, insertion-mutation TA-77 pb insTA. Exploring new the patient, we showed that she presented thickening of the lips and fingers. On pituitary study IGF1 elevated was found (358 ng/ml, upper limit for sex and age 204 ng/dl) and FSH and LH elevated, with remaining pituitary axis normal. After 2 h of 75 g glucose-load, a level of 1.85 ng/ml of GH was reached. In cranial MRN empty sella showed. 60 mg of lanreotide, a deep subcutaneus injection each 28 days were prescribed. A scintigraphy octreoscan revealed capture in pituitary. The case was evaluated by Neurosurgery Unit rejecting in this moment surgical treatment cause of no identificated pituitary mass and high risk of CSF leak. To the date, the patient had been loss weight with normalization of GH-axis.
Conclusions: In recent years there had been numerous advances in our understanding of genes that influence obesity, but it is unlikely that their contribution was independent of the numbers environmental factors. The percentage of endogenous obesity is small but it is crucial to identify these patients well as they could benefit from more specific treatments.