ESPE Abstracts

Introduction:Premature adrenarche (PA) is the most common cause of premature pubic and axillary hair growth before the age of 8 in girls. At the time of diagnosis, the height and bone age of the cases with premature adrenarche were determined to be higher than their peers. The long-term effects of advanced bone age on the final length of the cases are controversial. In this study, it is aimed to share the long-term follow-up data of the cases diagnosed with pr...

Background: Resistance to thyroid hormone alpha (RTH-α) is characterized by varying degrees of symptoms and findings related to hypothyroidism. However, diagnosis is difficult since thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal, but normo- or macrocytic anemia is generally present in the reported cases. L-thyroxine can alleviate some symptoms; however, there is limited ...

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

Background: Severe Hypertriglyceridemia (HTG) defined as triglycerides (TG) in blood plasma higher than 1000 mg/dl is a rare condition in childhood. Its causes are classified as primary and secondary and among these last they include pharmacological causes. Steroids associated with some chemotherapy drugs, particularly asparaginase (Asp), are a combination with special risk.Objective and hypotheses: Describe the evolution of lipids profile in LLA patient...

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...

Background: Pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2) are novel regulators of the GH-IGF axis, modulating IGF bioavailability through control of cleavage of IGFBPs and release of IGF from the ternary complex. Changes in the peripheral IGF system, including low IGF concentrations independently of GH secretion, have been reported in scenarios of malnutrition such as anorexia nervosa (AN). The role of pappalysins and stanniocalcins in the pa...