ESPE Abstracts

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 ...

Introduction: Primary osteoporosis are frequently linked to syndromic conditions such as osteogenesis imperfecta which also involves extra esqueletic tissues. With the advancement of medicine, this group has been reduced, due the ability to specifying the causal pathogenic variants. Among these, the LRP5 (Low-density lipoprotein receptor-related protein 5) gene mutations are the most frequent cause. LPR5 is a fundamental coreceptor in the wnt/betacatenin signa...

Background/Objective: Micro-and macrovascular changes are the cause for diabetes complications. Retinal vessel analysis is a unique method to examine microvascular changes in brain derived vessels.Subjects/Methods: Sixty-seven pediatric and adolescent type 1 diabetes patients and 58 healthy control persons underwent nonmydriatic retinal photography of both eyes. Arterioles and venules positioned in the region 0.5 to 1 diameter of the optic disc measured ...

Introduction: Granulosa cell tumors (GSTs) of ovary are very rare, usually large gonadic neoplasms arising from the mesenchyme and sex cords. The main clinical appearance of the juvenile GCTs is represented of signs of excessive estrogen (Precocious puberty - 75% of cases) or testosterone secretion (rare).Aim: To present the different clinical presentation and outcome in a case series of a rare tumor patients.<p clas...

Background: One of the main concerns in patients with growth disorders is to achieve optimal adherence to growth hormone (GH) treatment. For this it is important to identify patients with low adherence to treatment and to evaluate actions to improve it.The Merck Patient Support Program (PSP) carried out educational actions aimed at patients with low adherence and their parents, to raise their awareness of the importance of good adherence...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

Background: Thyroid hormones act via receptors (TRα; TRβ) encoded by separate genes (THRA, THRB). Mutations in THRA are a recently-recognised cause of Resistance to Thyroid Hormone alpha (RTHα), a disorder with tissue-specific hypothyroidism but near-normal thyroid function tests.Aim: We describe the youngest recorded case of RTHa, in a 2yr old boy with disproportionate short stature, ...

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

Background: Graves’ Disease (GD) is the most common cause of hyperthyroidism in children and develops because of stimulation of the thyroid gland by TSH receptor auto-antibodies (TSHR Ab). An increased risk of obesity has been described in both adults and children following initiation of anti-thyroid drug (ATD) therapy but the longer term impact of GD and it’s treatment on physique in children is unclear.Aims:</strong...

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...