ESPE Abstracts

Introduction: Parathyroid Hormone (PTH) is one of the principal regulatory hormones for calcium and phosphate homeostasis. Reduced PTH concentration in hypoparathyroidism is characterised by hypocalcaemia and hyperphosphataemia.Case Presentation: We report a ten-year-old girl who was admitted to the Department of Paediatrics, Endocrinology, Diabetology with Cardiology due to repeated seizures, hypoalcaemia with suspected...

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

Background: Recently, T3 receptor alpha (TRα) mutations have been identified in a number of patients with varying degrees of growth impairment, delayed development, constipation, increases in serum T3 and decreases in T4 and rT3.Objective: To determine the spectrum of clinical and functional consequences of novel TRα mutations.Method: Clinical assessment and biochemical, imaging...

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

Background: Counselling adolescents with chronic diseases can be challenging when it comes to appropriate interview techniques and the doctor's attitude towards the patient. Successful communication can be a key element of treatment. Motivational interviewing (MI) is widely applicable in the management of behavioural problems and illnesses, as it increases patients' motivation for lifestyle changes. This plays a particularly important role in the tre...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

Aim: To identify factors affecting compliance to treatment with recombinant growth hormone (rhGH) in children with growth hormone deficiency (GHD).Study population and Methods: The following data were collected during standard visits in 8 endocrine clinics in Poland: medical history, auxological measurements, laboratory tests and the numbers of empty and full rhGH ampoules dispensed and returned by the patients. The obse...