ESPE Abstracts

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

Background: Blood glucose levels are physiologically controlled by insulin and counter-regulatory hormones, mainly glucagon. Type 1 diabetes patients are deficient in insulin and some level also glucagon. Therefore, bi-hormonal closed-loop system seems to be the best way to control glycemia.Objective and hypotheses: There are two main approaches to add glucagon: (a) as safety measures for rescue in case of hypoglycemia (2) as a mean to optimize metabolic...

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

Fertility and puberty onset are controlled within the brain by a neural network that drives the secretion of gonadotropin-releasing hormone (GnRH) from hypothalamic neuroendocrine neurons. During postnatal development, various permissive signals must be integrated for the initiation of sexual maturation but the molecular events that orchestrate the timely activation of the GnRH neurons remain a major unsolved biological mystery. Increasing evidences point out Micro-RNAs (miRNA...

Hypercalcaemic disorders in children may present with poor feeding, hypotonia, lethargy, dehydration, vomiting, polyuria, failure to thrive, seizures and hypertension. The causes of hypercalcaemia in children, which can be classified as parathyroid hormone (PTH)-dependent or PTH-independent, are similar to those occurring in adults except that primary hyperparathyroidism and malignancy which the most common causes in adults, and account for >90% of adult patients with hype...

Resistance to thyroid hormone mediated by defective TRβ (RTHβ) or TRα(RTHα).Separate genes (THRA, THRB) undergo alternate splicing, generating nuclear receptors (TRα1, TRβ1, TRβ2) with distinct tissue distributions, which mediate thyroid hormone action; the function of a non-hormone binding protein (α 2), derived from the THRA locus, is unknown.RTHβ a dominantl...

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

Introduction: Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rare disease. Several genetic factors caused to neonatal disease have been identified to date. PTF1A (pancreatic transcription factor 1a) play a key role in early pancreas development and cerebellar neurogenesis. Biallelic mutations in PTF1A have been reported in patients with pancreatic and cerebellar agenesis, whereas mutations loc...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...