ESPE Abstracts

Background: Isolated growth hormone deficiency is the most common pituitary hormone deficiency, although the majority of cases are idiopathic. The presence of pituitary structural abnormalities may influence growth hormone (GH) deficiency severeness.Objective: Assess the effect of pituitary abnormalities in idiopathic isolated growth hormone deficiency (IIGHD).Methods: We analysed 65 children with IIGHD and pituitary magnetic resso...

Background: Human placenta exhibits a specific miRNA expression pattern. Some of these miRNAs are dysregulated in pregnancy disorders like preeclampsia and intrauterine growth restriction (IUGR), and are potential biomarkers for these pathologies. No studies have been performed in maternal obesity.Objective and hypotheses: (1) Define the placental miRNA profile in pregnant women with: a) pre-pregnancy (preOB) or gestational obesity (gestOB), b) gestation...

Background: Besides surgery, radioactive iodine therapy (RAI) is an effective and safe option to treat children with hyperthyroidism from Graves disease (GD) who cannot achieve euthyroidism with antithyroid drugs.Objective and hypotheses: To present the experience of a Portuguese paediatric unit with the use of RAI in children with GD.Method: The authors performed a review of 7 cases of Graves disease of age under 18 years treated ...

Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.Method: Subjects: adult DSD patients (56 patients with 46,XX DSD – 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD &#15...

Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.Case report: Newborn male 27 days old from North A...

Introduction: DSD patients present varied degrees of atypical genitalia. The social sex assignment and the surgery decisions must be proceeded by a multidisciplinary team approach with the family. Surgeries should be only performed by experienced surgeons. The current trend is the early correction, but some patients and non-governmental entities argue that the surgeries should be delayed until the patient’s consent.Objective...

Of the 67 included DSD patients, 33% were HSCs. 68% women and 32% men, with a total concordance between legal sex, current gender and chromosomal sex. Median age: 10.5 years, IQR 8-14. The most frequent clinical form was non-classical (NC) 45.5%, followed by classical with saline loss (CPS) 41%. The distribution of each clinical form according to the karyotype is significant (P = 0.013), the most frequent with XY karyotype is CPS and in NC forms all cases are XX. Med...

The mutation of the SHOX gene is a cause of short stature by varying frequency depending on the published work, but estimated at around 3-10 % of cases of short stature. The main diagnostic scheme for starting genetic testing is the Rappold score, which requires clinical and radiological criteria, under which this form of short stature is framed as a disharmonious. In our clinical experience, however, we also looked for mutations in the SHOX gene in patients with signs of ...

XY, 14 years old, was born at term, birth weight 4900 g, length 54 cm. No problems reported in the early years of life. Due to recurrent abdominal pain for several years associated with dyspepsia, at 13 years he performed blood tests, with evidence of hypocalcemia (6.1 mg/dl) and hyperphosphatemia (8.6 mg/dl). For this reason, he was admitted to our ward: the weight was Kg 67.1 (1.8 SDS), height 168 cm (1.5 SDS), pubertal stage 4, objective examination in the norm. The exams p...

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...