ESPE Abstracts

Background: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population specific growth charts for TS.Objective and hypotheses: Considering national and ethnic differences, we undertook this multicentered collaborative study to construct growth charts and reference values for height, weight, and BMI from birth to adulthood for spontaneous growth of Turkish girls w...

Background: Turner syndrome (TS) can manifest with various clinical features depending on the karyotype and the genetic background of affected subjects.Objective and hypotheses: The aim of this study was to evaluate growth parameters from birth to adulthood in girls with TS in a cross-sectional study.Method: A total of 842 patients, with an age of diagnosis ranging from birth to 18 years followed-up between 1984 and 2014, from 35 d...

Background: Sitosterolaemia, or phytosterolaemia, is a disorder of increased plant sterol levels in the body leading to a variable presentation including hypercholesteremia, xanthoma, atherosclerosis and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype. It is caused by recessively inherited mutations in ABCG5 or ABCG8 which encode the sterol efflux transporters in the gut. Hyperchole...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

Introduction: MEHMO syndrome (mental retardation, epileptic seizures, hypogenitalism, microcephaly, and obesity) is a rare X-linked disorder causes by EIF2S3 gene mutations. This gene encodes a key factor for integrated stress response and initiation of protein synthesis. Since many hormones are proteins or peptides by nature, some of the reported cases of MEHMO syndrome include endocrine disorders: hypopituitarism (hypogonadism, growth hormone defici...

Background: Pseudohypoparathyroidism (PHP) is a condition primarily caused by impaired hormonal signaling through the stimulatory G protein (G2 alpha) for the activation of adenyl cyclase, which is coupled to G protein receptors(1). This occurs due to the molecular defects in the receptors related to the alpha subunit. (1–3). The condition results in resistance to Parathyroid hormone (PTH) and other hormones. Less than 60 cases have been reported worldwi...

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

Introduction: Approximately 25% of congenital hyperinsulinism (CHI) patients are unresponsive to medical therapy. These cases are usually associated with inactivating ABCC8/KCNJ11 genes mutations or rarely with dominant GCK variants. Activating dominant mutations in the CACNA1D gene were recently found to cause mild form of CHI, muscle hypotonia and autistic features.Objectives: Herein we descr...

Background: Prader-Willi syndrome (PWS) is a rare genetic obesity syndrome associated with relative growth hormone deficiency. Scoliosis is a known association of both PWS and growth hormone therapy (GH), although its role in causation remains uncertain. In the literature, short-term and long-term data revealed no adverse effects of GH on scoliosis. As the metabolic and clinical benefit of growth hormone therapy is established in the management of PWS, it is d...