ESPE Abstracts

Introduction: Thyroid hormone resistance (THR) is a rare disease (≈ 1/50000) mainly due to thyroid hormone receptor beta gene (THRB) mutations, generally identified in late childhood and adulthood. We report 2 atypical cases of neonatal diagnosis of THR.Case 1: The newborn presented with neonatal respiratory distress due to a voluminous compressive goiter, requiring invasive ventilation. Thyroid function test...

Background: An underestimated figure of 1,249 children with type 1 diabetes mellitus (T1DM) was diagnosed in Indonesia from 2017 to 2019. In 2021, there were around 0.05 paediatricians per 1,000 children in Indonesia. Only 1.2% (n=54) were pediatric endocrinologists practising in 17 out of 38 provinces populating urban areas in Indonesia. Therefore, Changing Diabetes in Children (CDiC) Indonesia, a public-private partnership, has delivered training fo...

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

Background: GL1I2 encodes a zinc-finger transcription factor expressed in the developing hypothalamus and in Rathke's pouch, the embryonic precursor of the pituitary gland. Pathogenic GL1I2 variants have been implicated in the etiology of the broad clinical spectrum of congenital hypopituitarism (CHY): holoprosencephaly, midline facial abnormalities, Culler-Jones syndrome, combined pituitary hormone-deficiency (CPHD) and isolated GH-defi...

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a focal, diffuse, or atypical histological form and a high risk of cerebral injury due to severe hypoglycemia.Methods: We retrospectively evaluated the treatment and outcome of a cohort of patients with non-focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark from January 2000 to May 2017. Data were extracted from hospital files.<p class=...

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

Central precocious puberty (CPP) is effectively treated by inhibition of GnRH signaling through GnRH receptor desensitization with depot GnRH agonists (dGnRHa), but the first injection is associated with a surge in LH and FSH (flare) that proportionally increases estradiol levels. When estradiol levels drop, usually within a fortnight, vaginal bleeding may be seen in a small number of girls. Although dGnRHa that use higher, longer-acting doses are increasingly being used in gi...

Background: Decreased serum adiponectin levels are associated with obesity and peripheral insulin resistance (IR). PCOS is characterized by hyperandrogenism and chronic anovulation and frequently is associated to IR. Some defects of Insulin Receptor have been proposed as mechanisms to explain ovarian hyperandrogenism in PCOS.Objectives: To explore adiponectin levels in adolescents with PCOS and to evaluate if adiponectin would identify potential patients...

Background: Puberty is associated with a physiological decline in insulin sensitivity. Overweight and obesity are common among girls with Central Precocious Puberty (CPP). CPP and early menarche have been considered as risk factors for obesity and cardiovascular diseases during adulthood. Besides, concern has been raised by the potential impact of GnRH analogues (GnRH-a) treatment on body weight and metabolic profile.Objective and hypotheses: To evaluate...