ESPE Abstracts

Background: DEAH-box protein DHX37, encodes an RNA helicase, is involved in ribosome biogenesis. Monoallelic mutations in DHX37 gene have recently been identified in 46,XY differences/disorders of sex development (DSD) patients with nonsyndromic gonadal dysgenesis as well as testicular regression, while biallelic mutations have been associated with microcephaly and structural brain abnormalities. Here, we present a patient with penoscrotal hypospadias and bil...

Objective: Hereditary hypophosphatemic rickets is a rare renal phosphate wasting disorder causing burden on pediatric patients despite conventional treatment of phosphate and calcitriol. The aim of this study is to analyze genetic and clinical variability of children with X-linked hypophosphatemic rickets (XLHR), focusing on short term, long term and pubertal impact of conventional treatment. Design: Retrospective cohort studyMet...

Objective: We aimed to evaluate the relationship between serum myostatin levels and metabolic parameters in children with insulin dependent (Type 1) diabetes mellitus and to show the relationship with sarcopenia in children with insulin dependent diabetes mellitus.Methods: Forty -four patients aged between 8 and 16 years, and 45 control patients were enrolled in the study. Anthropometric measurements and laboratory analy...

Background/Aim: Type 1 diabetes Mellitus (T1DM) often presents with clear clinical signs after a long-term asymptomatic autoimmune process. This long and silent period has been leading to an increase in awareness day by day in order to prevent and predict the development of the disease. Among the well-known genetic and environmental risk factors, close relatives of the index cases constitute a population that is quite suitable for predicting and preventing the...

Objective: The clinical, laboratory and prognostic findings of the patients diagnosed with Kowarski Syndrome (biologically inactive growth hormone) were evaluated between February 2009 and February 2019 in order to contribute to literature.Materals and Methods: 110 cases diagnosed with Kowarski syndrome between February 2009 and February 2019 were evaluated retrospectively. 97 cases continued to work. 92 cases at least one year, 62 cases...

Introduction: Childhood hypophysitis (CH) is an extremely rare entity that has difficulties in definition and displays a wide variety of symptomatology. The volume and shape of pituitary gland may increase in physiological periods such as puberty and pregnancy, it may also change in various neuroendocrine and psychiatric diseases. It is important to distinguish physiological changes observed in the pituitary, especially in puberty, from hypophysitis.F...

Background: Congenital hypopituitarism (CH) refers to a deficiency of one or more pituitary hormones resulting from variants in genes encoding transcription factors for pituitary development. CH cases are mostly sporadic but 5-30% can be familial. Genetic etiology is not determined in most cases. The aim of our study was to evaluate the genetic features of CH using different molecular and/or molecular cytogenetic techniques.Subje...

Childhood obesity has emerged as an important public health problem in the worldwide. It is important to follow these cases in multidisciplinary centers at an early age in order to prevent metabolic and psychosocial comorbidities that may develop. Bariatric surgery is a treatment method whose frequency is increasing in adolescent obesity. In the study, the 6-month results of the patients who applied to the obesity center were shared.Materials-Met...

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...