ESPE Abstracts

Background: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

Background: Childhood cancer survivors (CCS) are at increased risk of endocrinopathies; as a consequence of cranial/craniospinal radiotherapy and alkylating agents. Hypothalamic-pituitary dysfunction, thyroid dysfunction and gonadal failure are frequently seen.Aim: To explore the endocrine monitoring following completion of treatment for central nervous system (CNS) tumours within a regional paediatric oncology service.<...

Background: An increased prevalence of extra-thyroidal congenital malformations in infants with congenital hypothyroidism (CH) is well established. However, accurate estimation of prevalence figures requires careful distinction between permanent and transient CH. Moreover, the mechanisms resulting in congenital malformations are not well understood.Study aim: To estimate the prevalence of cardiac, extra-cardiac and/or sy...

Background: Vitamin D has a key physiological role in many metabolic process and neuromuscular activities. The peak bone mass accrual occurred during adolescence, where about 51% of bone mass is gained during puberty and about 37% of the bone mineral density (BMD) of adults is reached. Vitamin D deficiency has long-term negative implications including increased risk of osteomalacia and osteoporosis. Severe hypovitaminosis D appears to be most common in the Mid...

Short stature is one of the most common concerns presented to pediatric endocrinologists. ISS describes a heterogeneous group of children with a height of more than 2 SD score (SDS) below the corresponding mean height for a given age, sex, and population group without underlying aetiology. The primary objectives of GH treatment are acceleration of growth velocity to promote normalization of stature during childhood and attainment of normal FAH.Ob...

Background: Paragnagliomas and pheochromocytomas are rare neuroendocrine tumors that originate from the paraganglionic cells of the autonomic nervous systems. These tumors may be extra or intra-adrenal in site. The use of antihypertensive medications is usually challenging in these patients. Long acting alpha and beta blockade can be quite useful preoperatively but challenging postoperatively. We present a case of familial paraganglioma that was successfully t...

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

Background: Several somatropin products are available as pen and electronic devices. When administering the last dose from a device, patients may have an insufficient amount of GH remaining for a full dose.Objective and hypotheses: The aim of this analysis was to estimate the potential GH waste per patient with pen devices and the easypod® device, and to quantify the potential economic impact of expected GH waste from patient and health c...