hrp0098fc12.6 | Thyroid | ESPE2024

The First Robust Bioavailability/Bioequivalence (BA/BE) Study of Thyromimetic Tiratricol, a Treatment in Development for MCT8 Deficiency.

Sonesson Christian , Carroll Kevin , Singh Nand , McDermott John , Sjöblom Nygren Kristina , Näsström Jacques , Paul A Dickinson

Background and Objectives: MCT8 deficiency is a debilitating, ultra-rare, X-linked disorder resulting from dysfunctional thyroid hormone (TH) transport. A lack of TH in the brain results in profound neurodevelopmental delay while a co-existing excess of TH in tissues outside the brain leads to symptoms of chronic thyrotoxicosis. Tiratricol is a naturally occurring metabolite of triiodothyronine (T3) that clinical trials have shown can restore normal TH signall...

hrp0086s6.1 | Prevention of childhood obesity | ESPE2016

Long-term Consequences of Childhood Obesity: The Impact of Genes and Lifestyle

Franks Paul

In most complex traits, susceptibility to certain risk exposures and response to clinical interventions in is under genetic control, a concept broadly termed “gene-environment interaction”. Although in animals and in plants there is evidence supporting this notion, in humans most evidence is confined to rare monogenic disorders. In complex diseases like type 2 diabetes and obesity, interactions between genetic and environmental risk factors are likely to begin very e...

hrp0094wg7.3 | ESPE Working Group for Paediatric Endocrine Nurses (ESPEN) Symposium | ESPE2021

Nursing care for the child with gender dysphoria

Carruthers Paul ,

This presentation will provide an insight into the Gender identity Development service (GIDS) endocrine pathway. The service has experienced a difficult year with well documented legal challenges; these will be briefly presented highlighting the impact this has had on patient care. It is important when working with gender incongruent young people to be aware of the use of appropriate pronouns, co-occurring difficulties and the importance of advocacy in our nursing practice. Th...

hrp0094p1-26 | Diabetes A | ESPE2021

Efficacy and Tolerability of GLP-1 Receptor Agonists in Children and Adolescents with Obesity

Ryan Paul ,

Background: Rates of pediatric obesity are on a concerning upward trajectory globally, with the prevalence approaching 1 in 5 children and adolescents aged 2-19 years in the United States. As a direct consequence of this obesity surge, we will continue to experience a substantial adult cardiometabolic burden. Although public health measures to optimize lifestyle interventions and reduce culpable environmental exposures are the primary target for governments an...

hrp0082lbp-d3-1002 | (1) | ESPE2014

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency

Chan Li , Novoselova Tatiana , Rath Shoshana , Carpenter Karen , Atkinson H , Dickinson Jan , Pachter Nick , Price G , Choong Cathy , Metherell Lou

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

hrp0089s8.2 | Thyroid disorders | ESPE2018

Central Hypothyroidism – an Update

van Trotsenburg Paul

Central hypothyroidism can be best defined as lower than desirable thyroid hormone production and secretion because of insufficient stimulation of a normal thyroid gland by a defective pituitary or hypothalamus, resulting in a too low plasma or serum (free) thyroxine (FT4) concentration accompanied by a more or less normal thyrotropin (TSH) concentration. Central hypothyroidism can occur isolated or as part of multiple pituitary hormone deficiency and can be a congenital or ac...

hrp0082p2-d3-479 | Hypoglycaemia | ESPE2014

The Majority of Late Presenting Congenital Hypoglycaemia Disorders are Really Missed Diagnosis: What Can we do to Improve Diagnosis in the New-Born Period?

Troung Lisa , Thornton Paul

Background: Patients with hyperinsulinism (HI) and anterior hypopituitarism often present in the new-born period (NBP). However up to 30% patients with HI and an unknown number with hypo-pit will present in the first year of life. Despite advances in care the long-term neurological outcome for patients with HI is poor in 20-40% cases.Aim: To retrospectively evaluate the care given during the NBP in a series of patients diagnosed with late presenting pote...

hrp0084p3-933 | GH & IGF | ESPE2015

Adult Height in Children Born Small for Gestational Age and Treated with GH: Data from the French KIGS Database

Polak Michel , Czernichow Paul

Background: Treatment with GH in children born small for gestational age (SGA) increases height velocity (HV) but data on adult height (AH) are scarce.Objective and hypotheses: To report AH in a group of SGA children treated with GH.Method: This is a post-marketing longitudinal analysis of SGA children treated with GH and included in France in KIGS. Selection criteria were children followed at least one year and having reached AH b...

hrp0084p3-1216 | Thyroid | ESPE2015

Hyperfunctioning Thyroid Nodule in an Adolescent

Baus Inka , Holterhus Paul-Martin

Background: In adults, autonomously functioning thyroid nodule (AFTN) rarely require cytologic evaluation and hyperthyroidism is often treated with radiojod (131J). In children and adolescents with AFTNs thyroid carcinoma was identified in about 10%.Results: An 17-year-old adolescent presented with symptoms of hyperthyroidsm. She suffered from agitation and headache. Thyroid function tests revaled a suppressed TSH (0.10 mIU/ml (reference range 0.51–...

hrp0089p3-p294 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Growth Hormone Deficit Associated to Complex Arteriovenous Malformation – Case Report

Mogoi Mirela , Velea Puiu Iulian , Paul Corina

Background: Arteriovenous malformations (AVMs) are rare in kids, estimated to represent 3% of all AVMs. They tend to rupture more frequently than in adults and, usually, are brought to attention after rupture, as the most common non-traumatic intracerebral hemorrhage. AVMs could also present with recurrent seizures or headaches. Their optimal management remains controversial.Case report: We present the case of a 4.5 y old boy, presented in our department...