ESPE Abstracts

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

Background: Iodine deficiency is associated with goiter and impaired brain function. Neonatal thyroid-stimulating hormone (TSH) screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency. In the absence of iodine deficiency, the frequency of neonatal TSH above 5 mU/L whole blood is less than 3%. A frequency of 3%-19.9% indicates mild IDD. Frequencies of 20%-39.9% indicate moderate and above 40% severe IDD.The aim: to ...

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

We have investigated two siblings, a sister and a brother, who presented at the age of 2 years, with central hypothyroidism, short stature and early onset obesity. The older sister presented at the age of 6 months with central hypothyroidism and was started on a low dose of thyroid hormone (25 ug l-thyroxine). Her growth continued to be poor and at the age of 2 years and 6 months her height was −3.98 SDS. She was started on growth hormone followed by a rapid catch-up gro...

Background: Deficiency of microsomal membrane enzyme 5α reductase 2 impairs the DHT production and differentiation of external genitalia, seminal vesicles and prostate in males. The present study describes the Genotype-Phenotype in inter-familial and intra-familial patients with same mutation of SRD5A2 gene.Methods: All patients underwent detailed clinical evaluation, hormonal profile, karyotyping and molecular analysis of SRD5A2 g...

Background: Thyroid imaging is recommended to determine the aetiology of congenital hypothyroidism (CHT). Currently scintigraphy is the gold standard imaging modality. Negative scinitigraphy despite the presence of thyroid tissue may lead to a spurious diagnosis of athyreosis. Few centres routinely perform both scinitgraphy and ultrasound so that the incidence of misclassified athyreosis is unknown.Aim: To describe the incidence of sonographically normal...

Background: Pubertal gynaecomastia (PG) is considered a clinical sign of an oestrogen–androgen imbalance at the breast tissue level although little evidence exists. PG occurs in 40–60% of adolescent Caucasian boys, and in most cases however, no underlying endocrinopathy can be identified. Very few longitudinal studies on PG exist.Objective and method: As a part of the longitudinal COPENHAGEN Puberty Study we followed 110 healthy Danish boys (ag...

Background: According to current literature 1-h glucose ≥155 mg/dl during an oral glucose tolerance test (OGTT) is considered an independent predictor of β-cell deterioration and future progression to prediabetes in obese individuals.Objective and hypotheses: To investigate whether determination of glucose level obtained 1-h after glucose load can improve predictive ability of prediabetes.Method: Ninety-eight overweight/...

Background: Cushing syndrome is very rare in childhood and adolescence and often occurs with iatrogenic causes. The major cause of endogenous Cushing syndrome is Cushing’s disease, which results due to excessive ACTH secretion from pituitary cells (corticotroph adenoma).Objective and hypothesis: Cushing syndrome cases, which presented with diabetic ketoacidosis (DKA) in adulthood have been rarely reported. However, to our knowledge, there is no repo...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by mineralocorticoid resistance with subsequent salt wasting, hyperkalemia, metabolic acidosis, and elevated plasma renin and aldosterone levels.Patients and methods: We report a male newborn that presented with failure to thrive and sustained hyponatremia during his early postnatal period. He was conceived after IVF (twin pregnancy) and prematurely born by cesare...