ESPE Abstracts

Introduction: Isolated growth hormone deficiency (IGHD) type IA causes a severe growth retardation. Their initial good response to exogenous GH is hampered by the development of anti-GH-antibodies leading to treat with IGF1 as the only therapeutic option. Here we present the evolution of a patient with IGHD type IA treated with IGF1r for more than 5 years.Description of the caseWe present a 5-year-...

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...

Background: GH deficiency type IA represents the most serious form of isolated deficit GH (IDGH). It’s transmitted as an autosomal recessive pattern and in most cases there is a homozygous deletion of the GH1 gene. Good initial response to treatment is characteristic, although often could appear antibodies against recombinant GH.Case presentation: We report a case of a 5-year-old Pakistanist boy evaluated for severe growth failure (heigh <8.07 <...

Pituitary gigantism is a rare disorder caused by excess of GH/IGF-1 due to GH-secreting lesions, that occurs before epiphyseal closure leading to increased linear growth. These cases have more aggressive features of pituitary disease than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to treat. Over the past two decades several molecular defects that cause GH-secreting pituitary adenomas have been identified, in...

Background: Links between early life exposures and long-term health outcomes may in part be due to nutritional programming, and suggested benefits of breast feeding during infancy include reduced risk of obesity and metabolic disease. Mechanisms remain unexplained but potential differences in lipid exposures during infancy may be involved.Objective and hypotheses: To explore the effects of breast- or formula-feeding on lipidomic profiles we used recently...

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...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Background and Objectives: Early life might be a critical window for adiposity programming later in life. Metabolic profile in early life may reflect this programming and correlate with later life adiposity. We investigated if metabolic profile at 3 months of age is predictive for body composition at age 2 years and if there are differences between boys and girls and between infant feeding types.Methods: In 318 healthy t...

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

Background and Objectives: Chronic administration of synthetic glucocorticoids affects 1% of the world population and is responsible for secondary adrenal insufficiency for 40% of the patients. In pediatrics, glucocorticoid-induced adrenal insufficiency (GI-AI) diagnosis is based on the Low Dose Synacthen Test (LD-SST). Screening for glucocorticoid-induced adrenal insufficiency implies medical and economical costs due to the necessity of an intravenous line an...