ESPE Abstracts

Introduction: Short stature is a common reason for seeking medical care in childhood. However, clinical variability and genetic heterogeneity don`t allow to identify the immediate cause in a significant part of patients.Materials and Methods: Patient L., 11.5 years old, complained of growth retardation. A boy from the 3rd pregnancy, which occurred against the background of gestosis, SGA. Delivery 1, by emergency ca...

Background: Pseudohypoparathypoidism (PHP) type 1A is a rare endocrine disorders caused by GNAS mutation. Patients phenotype with PHP type 1A include obesity, round facies, brachydactyly, subcutaneous ossifications, short stature. The resistance of action of parathyroid hormone (PTH) leads to hyperphosphatemia, hypocalcaemia and secondary hyperparathyroidism. Hypercalcitoninaemia has been described in limited patients with PHP without thyroid patholog...