ESPE Abstracts

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...

The pathological low stature is considered to be one that does not conform to normality (<2 SDS), that with a pathological growth rate. An obvious element is the conditioning that can generate in their professional outings, both in public and private activity. This seems to be evident in the female sex than in the male sex. The health system considers the treatment (with Ghrh) in pathological size without considering sexual dimorphism.Goals: To study...

Introduction: Androgens are essential for the development of male sex characteristics. Testosterone (T) production from androstenedione (A) by the Hydroxysteroid 17-Beta Dehydrogenase 3 (HSD17B3) in gonadal Leydig cells triggers the differentiation of the Wolffian ducts into epididymis, vas deferens, seminal vesicles and the prostate. Shortly after, the virilisation of the external male genitalia starts through the conversion of T into dihydrotestosterone (DHT...

Introduction: Recent publications report an earlier age of onset of pubertal changes in the US and Europe. Referrals to pediatric-endocrinologist for early puberty are increasing. Precocious puberty diagnosis is often delayed, especially in boys. Improvement in pubertal assessment (age at onset of puberty) by pediatricians and general practitioners is needed to participate in the PROSPEL study and to improve management of pubertal abnormalities.<p class="a...

Germ cell tumors (GCTs) comprise a heterogeneous group of neoplasms. The WHO classification 2016 recognizes three types of testicular GCTs, including the GCNIS-related (Germ Cell Neoplasia In Situ) GCTs, being the malignant seminomas and nonseminomas. They originate from a totipotent embryonic germ cell. GCNIS, seminoma and embryonal carcinoma, are characterized by the pluripotency marker OCT3/4 (POU5F1). Seminomas (and GCNIS) are positive for SOX17 and embryonal carcinomas fo...

Background: Thyroid hormone disrupting chemicals (THDCs) which are present in the environment, food and everyday consumer products, interfere with thyroid hormone signaling, possibly by interacting with thyroid hormone receptors (THRs). This alters the thyroid hormone homeostasis and affects various functions regulated by the thyroid hormone e.g. macronutrient metabolism, cardiovascular function, and normal brain development. Therefore, there is a necessity for detection and m...

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a disorder with autosomal dominant inheritance pattern. It is characterized by the occurance of parathyroid, pituitary and pancreatic tumors. MEN1 presented by insulinoma as first presentation in children is very rare. On the other hand insulinoma affects 10% patients with MEN1 and occurs usually in young patients.Case: Eleven years and eight months old girl was admitted, after a syncopal episode ...

Type 1 diabetes (T1D) is considered chronic autoimmune disease in which autoreactive T-cells and inflammation cause severe loss of pancreatic beta cells. Insulitis, the pathologic hallmark of T1D, is an inflammatory lesion consisting of immune cell infiltrates around and within the islets. New research initiatives and methodologies are advancing our understanding of pancreas pathology. A major impetus to the field has been given by the institution of the JDRF nPOD (Network for...

Background: Disorders (or differences) of sex development (DSD) are rare congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is important for male sex development. LHCGR mutations can cause Leydig cell hypoplasia, which is an autosomal recessive disorder.Objective and hypotheses: We found two heterozygous mutations in the LHCGR, a n...