ESPE Abstracts

Introduction: About 15% of children born small for gestational age (SGA) do not reach final height within normal range. Recombinant human growth Hormone (rhGH) has shown to be effective in catching up growth velocity and height in children born SGA.The objective of our study is to identify the predictive factors of final height in children born SGA treated with rhGH.Materials and Methods: Monocentric, retrospective s...

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

Background: The management of MEN1 in CYP<19 years is challenging due to its rarity, and diverse presentations of its component tumours to several adult and paediatric medical and surgical specialists. There is little high quality evidence for treatment recommendations.Aim: To ensure age- and tumour-specific paediatric and adult teams are involved in co-ordinated discussions to improve high quality care and hence survival and reduce long term morbidi...

Introduction: Congenital adrenal hyperplasia (CAH) is most often caused by 21-hydroxylase deficiency (21OHD: 95%) or by 11-hydroxylase deficiency (11OHD). Classic CAH results in impaired cortisol production and consequently elevated ACTH concentrations leading to chronic adrenal stimulation with strongly elevated adrenal steroid precursors before the enzymatic defect. In contrast to other forms of adrenal insufficiency, some untreated classic CAH patients seem to have less cli...

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...

Background: Hypothalamic-Pituitary–Adrenal (HPA) axis suppression is common during inhaled corticosteroid (ICS) treatment of asthma, and deaths due to adrenal crisis are described. Little is known about the optimal treatment or recovery of ICS induced HPA axis suppression.Aims: To describe the treatment and outcomes of children with ICS induced HPA suppression diagnosed on the low dose short Synacthen test (LDSST).Method: The ...

Background: Disorders of sex genitalia are a large group of genetic disorders whose management is still unaffordable in many countries in sub Saharan Africa. In Cameroon, although many collaborative initiatives of management are developed, little data are available.Objectives: Describe epidemiological clinical, aetiologies and management aspect of DSD in a developing country.Patients and methods: This is a 5 years retrospective stu...

Background: Primary hypoaldosteronism (PA) is a rare inborn disorder with life-threatening symptoms in newborns and infants due to an aldosterone synthase defect. As plasma aldosterone concentration (PAC) can remain in the normal range, interpretation of the laboratory findings could be difficult and might lead to delayed initiation of therapy.Objective and Hypotheses: This study aims to show that PAC/PRC (plasma renin concentration) rat...

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...