ESPE Abstracts

Background: “Carney complex” is an autosomal dominant inheritance extremely rare genetic syndrome, usually determined by PRKAR1A (17q22-24) gene mutations. The clinical picture is characterized by speckled skin pigmentation; cardiac, cutaneous and mammary myxomas; schwannomas; endocrinopathies (acromegaly, Cushing syndrome due to primary pigmented nodular adrenocortical disease) and tumors of the endocrine glands.Case...

Background: Unlike term neonates, known to exhibit a physiological pseudohypoaldosteronism, very preterms (VPT) display a high sodium waste at birth with partial aldosterone deficiency. This context, combined with a low aldosterone/renin ratio is highly suggestive of a defect in mineralocorticoid biosynthesis.Objectives and hypotheses: To investigate mineralocorticoid and glucocorticoid pathways in newborns, and to clarify the impact of prematurity upon ...

Background: Diabetic ketoacidosis (DKA) in children and young adults carries significant morbidity and mortality relating to complications such as cerebral oedema. Acute kidney injury (AKI) is a rare but potentially fatal complication of DKA. We present three cases of DKA complicated by AKI.Case 1: A 9-year-old girl presented with severe DKA at diagnosis. She was treated with intravenous fluids and insulin as per protocol. She had oliguria and haematuria...

Background: Animal studies have reported that exposure to synthetic glucocorticoids (sGCs) may lead to inter- and transgenerational effects on offspring phenotype. However, many of these studies are poorly designed, do not account for possible non-epigenetic confounds, and cannot determine the mechanism(s) by which gamete epimutations are induced.Objectives: Firstly, to determine whether developmental exposure of mice to...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

Background: Bisphenol A (BPA), a ubiquitous endocrine-disrupting chemical, has been shown to exert transgenerational effects on adiposity, metabolism, and reproductive outcomes in rodents, indicating epigenetic inheritance. Recent studies of other environmental insults (stress and high-fat diet) have demonstrated a mechanistic role for spermatozoal microRNAs in the transgenerational transmission of acquired paternal traits.Objective and hypotheses: To as...

Background: Treatment adherence to daily subcutaneous rhGH is a burden for GHD patients, with noncompliance reported in up to 77% of patients and significantly associated with reduced efficacy (Rosenfeld Endocr Pract 2008; Cutfield PLoS One 2011). Somavaratan, a novel rhGH fusion protein with t1/2 >100 h, demonstrated clinically meaningful improvements in height velocity and IGF-I in prepubertal children with GH deficiency (GHD) in a multicenter, randomized, Pha...

Background: GH treatment in severe GH deficiency during the transition period is a key matter.Objective and hypotheses: To assess the outcome of 30 severe GH deficient (GHD) patients after a structured transition program, in a French Universitary Hospital between 1988 and 2014.Method: 30 patients treated with GH until final height for congenital deficiency: 16/30 (12 ectopic posterior pituitary), brain tumors: 11/30 (5 Rathke’...

Background: Tubular immaturity, responsible for sodium wasting, is critical during the neonatal period, particularly in preterm neonates. This relates to partial renal aldosterone resistance (Martinerie, Ped Res 2009), coincident with low tubular expression of the mineralocorticoid receptor in newborns (Martinerie, Endocrinology 2009).Objective and methods: Our clinical trial (NCT01176162) aimed to assess aldosterone resistance in neona...

Background: Cognitive function has been shown to improve following GH treatment in adults. In children born small for gestational age (SGA) IQ scores were found to improve following 24 months of GH treatment.Objective and hypotheses: The aim was to observe cognitive function in pre-pubertal, short children with isolated GH deficiency (IGHD) or idiopathic short stature (ISS) during the first 24 months of GH treatment. Cognitive testing was carried out usi...