ESPE Abstracts

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...

Background: Bone morphogenetic protein 15 (BMP15), is an oocyte-specific growth factor, that regulates folliculogenesis and ovulation rate. It is encoded by the BMP15 gene (chromosome Xp11.2), in which heterozygous missense variants in the precursor or mature peptide cause primary ovarian insufficiency (POI) with the dominant-negative effect. BMP15-related ovarian dysgenesis (OD) constitutes 1.5-2.0% of POI. The underlying mechanism ...

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

Introduction: Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia and is rarely seen. Steroid synthesis cannot be done in the adrenal gonads. Adrenal glands have hyperplasia and lipid accumulation. Male babies are born to girls. Most of the cases are lost with severe adrenal insufficiency. Patients diagnosed and treated at supraphysiological doses during neonatal period. Here we present a case of lipoid adrenal hyperplasia diagnosed ...