ESPE Abstracts

Introduction: It is well known that thyroid disease (TD) is more prevalent in patients with Down Syndrome (DS). Among the dysfunctions are congenital hypothyroidism (CH), subclinical hypothyroidism (SC-H), Hashimoto’s thyroiditis (HT) and Graves’ disease (GD).The evaluation of the occurrence of these diseases in patients with DS according to age is still poorly reported.Objective: Verify the prevalence of TD in children and adolescents with DS ...

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

Background: DAX-1 (NR0B1) plays a key role in adrenal and reproductive development. It interacts with other nuclear receptors; however, its exact biological role remains unclear. In men most patients with X-linked adrenal hypoplasia congenita (AHC) present with acute adrenal failure. To date DAX-1 mutations have been found in more than 100 families or patients with X-linked AHC.Results: We report the case of a 2.5-year-old boy who presented with a histor...

Background and aims: The aromatase inhibitor letrozole is used to improve final height in boys with predicted short stature by delaying bone age (BA) maturation due to suppression of estradiol levels. There are few data regarding its effects, especially when used as single medication.Methods: Ten pubertal boys with predicted low final height treated with letrozole 2.5 mg/d p.o. (no other medication) for up to 24 months were analysed for auxological, labo...

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...

Background: Congenital hyperinsulinism (CHI; MIM #256450) is the most common cause of persistent hypoglycaemia in children. Recessive inactivating mutations in KATP channel subunits, encoded by ABCC8 and KCNJ11 genes, are the most common cause of CHI. Mutations of these genes usually cause forms of CHI which in the vast majority of patients are unresponsive to first line medical treatment with diazoxide. Multiple daily standard octreotide injections combine...

Background: Hyperinsulinemic hypoglycemia (HH) is the most common cause of severe, persistent neonatal hypoglycemia. Treatment of diffuse forms that is unresponsive to diazoxide and octreotide is near total pancreatectomy.Objective: To describe the clinical characterization of a newborn with congenital HH due to a diffuse pancreas lesion and unresponsive to diaxoside.Case report: Preterm term male of 33 weeks born to non-consanguin...

Background: Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT) is a clinically and electrographically heterogeneous steroid-responsive encephalopathy associated with thyroid autoantibodies.Objective and hypotheses: To investigate, whether children and adolescents with Hashimoto’s Thyroiditis (HT) lacking acute clinical manifestation of SREAT show electroencephalogram (EEG) alterations, and to compare EEGs of HT patients with those...

Background: A reduced GH response to different stimulation tests have been documented in both children and adults with Prader–Willi syndrome (PWS), independently from obesity. Previous reports suggested the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects.Objective and hypotheses: In this longitudinal study we re-evaluated the GH responsiveness to a combined test after long-term GH therapy ...