hrp0084p3-1083 | Hypo | ESPE2015

Cholestatic Hepatopathy and Hypoglycaemic Seizures as Primary Manifestation of Hypocortisolism in Infancy

Saupp Peter , Fried Michael , Bergmann Carsten , Meissner Thomas , Kummer Sebastian

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...

hrp0094p2-16 | Adrenals and HPA Axis | ESPE2021

Rapid clearance of hydrocortisone as a cause of poor control of CAH detected by 24-hour profiling of hydrocortisone concentrations.

Iordanidou Aikaterini , Ong Ken , Hindmarsh Peter , Gevers Evelien ,

Introduction: Hydrocortisone (HC) has a short half-life and individualization of treatment is required for optimal treatment of CAH, balancing between under- and overtreatment. Twenty four hour profiling of HC concentrations has shown large interindividual variation in clearance of HC and therefore has been used to individualize treatment. We present a severely virialized girl with CAH, in whom high doses of steroids failed to suppress androgen production thou...

hrp0097rfc13.2 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Arginine-stimulated copeptin is independent of GH secretion status

Binder Gerhard , Weber Karin , Peter Andreas , Schweizer Roland

Background: Copeptin is secreted in isomolar amounts along with arginine vasopressin peptide from the posterior pituitary. Its stability makes it a perfect candidate for the endocrine approach in the diagnosis of AVP deficiency. Arginine-stimulated copeptin is a possible alternative for the water deprivation test. We wondered whether basal and stimulated copeptin secretion is related to growth hormone secretion status or independent of it.<p class="abstext...

hrp0095fc1.3 | Thyroid | ESPE2022

Meta-analysis of DNA methylation datasets identifies aberrant DNA methylation of thyroid function and development genes in Down syndrome

Lauffer Peter , Zwaveling-Soonawala Nitash , Li Shaobo , Bacalini Maria , Naumova Oxana , Wiemels Joseph , Boelen Anita , Henneman Peter , de Smith Adam , van Trotsenburg Paul

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

hrp0084fc4.3 | Growth | ESPE2015

An Updated and Final Analysis of a Randomised Placebo-controlled Trial of the Effect of Oxandrolone and Timing of Pubertal Induction on Final Height in Turner Syndrome

Gault Emma-Jane , Cole Tim J , Perry Rebecca J , Casey Sarah , Paterson Wendy F , Hindmarsh Peter C , Betts Peter , Dunger David B , Donaldson Malcolm D C

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

hrp0095fc10.2 | GH and IGFs | ESPE2022

The first-year growth response to once-weekly growth hormone (GH) treatment can be predicted from the pre-treatment blood transcriptome in children with GH deficiency (GHD)

Garner Terence , Clayton Peter , Murray Philip , Bagci Ekaterine , Højby Michael , Stevens Adam

Growth response to daily GH treatment can be predicted using pre-treatment gene expression profiles.1 Once-weekly GH treatment potentially reduces the burden of daily injections2 and thus may be a major advancement in care for patients with GHD, vs standard, daily GH treatment. Here we investigate the prediction of first-year growth response based on pre-treatment blood transcriptome in children with GHD undergoing treatment with daily or once-weekly GH. ...

hrp0095fc10.3 | GH and IGFs | ESPE2022

Near final height in 62 twin pairs with twin-to-twin transfusion syndrome is not associated with the GHRd3 genotype

Schreiner Felix , Schulte Sandra , Kasner Charlotte , Bartmann Peter , Woelfle Joachim , Bettina Gohlke

Background: Alterations of pre- and early postnatal growth can have long lasting impact on adult height, body composition and metabolic health throughout life. In monozygotic twins discordant for prenatal growth due to twin-to-twin transfusion syndrome (TTTS), we previously demonstrated lower cord blood IGF-I concentrations and earlier pubertal maturation, indicative of prenatal programming of endocrine systems, to be linked to reduced final height of the form...

hrp0095fc11.1 | Late Breaking | ESPE2022

Deep subcutaneous adipose tissue is associated with hyperinsulinemia in adolescents

Cerenius Sara Y. , Stenlid Rasmus , Aydin Banu , Weghuber Daniel , Bergsten Peter , Forslund Anders

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

hrp0095p2-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Longitudinal assessment of bone health index (BHI) as a measure of bone health in short-statured children before and during treatment with recombinant growth hormone

Holzapfel Lukas , Bettendorf Markus , Rabe Michael , Mittnacht Janna , Choukair Daniela , Schenk Jens-Peter

Introduction: Bone Health Index (BHI) determined by measurement of cortical thickness of metacarpalia II-IV in x-rays of the left hand represents a method to estimate bone health in children. Aim of this study was to investigate changes of BHI SDS in the course of growth hormone (GH) treatment.Method: 256 consecutive children with short stature (isolated GH deficiency (IGHD) n = 121, multiple pituitary hormone deficiency...

hrp0095p2-129 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Molecular pathways linking fetal growth restriction to cardiometabolic risk in childhood

Perchard Reena , Higgins Lucy , Garner Terence , Stevens Adam , Johnstone Edward , Clayton Peter

Background: Cardiometabolic (CM) risk is linked to being small for gestational age (SGA, birthweight <-2SDS). Fetal growth restriction (FGR) may not result in SGA. We focused on potential CM risk in children born following pregnancies at higher risk for FGR.Aims: To identify associations between fetal and childhood weight trajectory quartiles and CM risk markers. 2.To define molecular pathways potentially associated w...