ESPE Abstracts

Background: According to recent European and Russian monitoring hypospadias and cryptorchidism are the most frequent malformations of the urogenital system in children in the general population. Currently there is a lack of information about the impact of assisted reproductive technologies (ART) on the development of congenital malformations, including the urogenital system, although the presence of this abnormality could lead to male reproductive disorders.</...

Introduction: Short stature is a common reason for seeking medical care in childhood. However, clinical variability and genetic heterogeneity don&grave;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...

Objective: Treacher Collins syndrome (TCS) is rare autosomal dominant genetic condition characterized by the following features of the head and face: absence of the ears, down-slanting palpebral fissures, eyelid colobomas, microtia, bilateral choanal atresia and etc. Prevalence of TCS is from 1 per 25,000 to 1 in 50,000 live births. Most of TCS patients don’t have endocrine disorders that is why endocrinologists are not familiar with this condit...