hrp0082p1-d2-253 | Thyroid (1) | ESPE2014

Maternal Hypothyroxinemia in Early Pregnancy is Associated with Poorer Arithmetic Performance in a School Test in Offspring at Age 5 Years

Noten Anna , Loomans Eva , Vrijkotte Tanja , van Trotsenburg Paul , van Eijsden Manon , Rotteveel Joost , Finken Martijn

Background: Subtle impairments in the thyroid function of pregnant women are associated with poorer scores on mental developmental scales in their children at age 2–3 years, and with reduced performance in a simple reaction time test at 5–6 years. However, associations with school performance estimates have never been studied.Objective and hypotheses: We aimed to assess the effect of normal variation in the maternal thyroid function during earl...

hrp0082p2-d2-278 | Adrenals & HP Axis (1) | ESPE2014

Do Neonates Need a Short Synacthen Test to Investigate the Adrenal Axis?

Niranjan Usha , Franklin Victoria , Bashir Imran , Martin Sarah , Gibson Alan , Wright Neil , Dimitri Paul

Background: There is limited evidence regarding the most appropriate method to investigate adrenal dysfunction in neonates. Our unit in Sheffield, UK measures a series of three serum cortisol levels to determine the need for a short synacthen test (SST). Other units use the SST as the first-line investigation in suspected adrenal insufficiency in neonates; however SST is more invasive with anaphylactic risk.Objective and hypotheses: To determine the prop...

hrp0082p3-d1-903 | Pituitary | ESPE2014

Xanthogranulomatous Hypophysitis: a Rare but Mistaken Pituitary Lesion

Kothandapani Jaya Sujatha Gopal , Bagga Veejay , Wharton Stephen , Sinha Saurabh , Dimitri Paul

Introduction: Xanthogranulomatous hypophysitis (XGH) is a very rare form of pituitary hypophysitis that may present both clinically and radiologically as a neoplastic lesion or craniopharyngioma. Our case series compares the paediatric and adult presentations of XGH and the differential diagnoses considered.Case series: Patient 1: A 15-year-old female presented with refractory headache, lethargy, short stature, delayed growth (weight (−3.3...

hrp0082lbp-d3-1008 | (1) | ESPE2014

Long-Term Impact of Childhood-Onset Type 1 Diabetes: Social Insertion, Quality of Life, Sexuality

Mellerio Helene , Guilmin-Crepon Sophie , Jacquin Paul , Alberti Corinne , Levy-Marchal Claire

Background: Little is known about the long-term social outcome of diabetic children.Objective and hypotheses: This study aimed to describe social and professional life, quality of life (QOL) and sexuality at adult age of children and adolescents with type 1 diabetes (T1D).Method: Participants (n=388, age=28.5±3.1 years; duration of diabetes=17.0±2.7 years, recruited from a French national register) completed a qu...

hrp0084fc9.5 | Beta cell disorders | ESPE2015

The Use of Glucagon for Management of Severe-Persistent Hypoglycaemia in Patients with Congenital Hyperinsulinism

Thornton Paul , Truong Lisa , Kinzel John , Empting Susann , Mohnike Klaus , Banerjee Indi

Background: Severe-persistent hypoglycaemia (SPH) in congenital hyperinsulinism (HI) can cause blindness and brain damage. First line treatment with diazoxide treatment can cause significant side effects, including fluid retention. Off-label use of i.v. reconstituted glucagon is also used but little safety and efficacy data have been reported.Objective and hypotheses: To evaluate the use of i.v. glucagon infusion for management of SPH in HI.<p class=...

hrp0084fc-lb-1 | Late Breaking Abstracts | ESPE2015

RNA Sequencing Reveals the Pathways Perturbed by Redox Imbalance in Nicotinamide Nucleotide Transhydrogenase Null Mice

Meimaridou Eirini , Goldsworthy Michelle , Chortis Vasileios , Foster Paul , Arlt Wiebke , Cox Roger , Metherell Louise

Background: In humans, loss-of-function mutations in Nicotinamide nucleotide transhydrogenase (NNT) cause familial glucocorticoid deficiency, a potentially fatal, adrenal-specific disorder characterized by increased ACTH and reduced cortisol levels. NNT is a highly conserved inner mitochondrial membrane protein, which supplies high concentrations of NADPH for detoxification of reactive oxygen species (ROS) by glutathione and thioredoxin pathways.<p class="abstext"...

hrp0084p2-215 | Bone | ESPE2015

Whole-Body Vibration Training Improves Physical Function and Increases Bone and Muscle Mass in Youngsters with Mild Cerebral Palsy

Gusso Silmara , Colle Patricia , Derraik Jose G B , Biggs Janene , Munns Craig , Cutfield Wayne , Hofman Paul

Background: Adolescents with cerebral palsy (CP) have decreased muscle mass resulting in impaired mobility and osteopenia. There is a void in therapeutic interventions aimed at increasing muscle mass, muscle function as well as osteopoenia in this population. Whole body vibration training (WBVT) has the potential to fill this therapeutic void by maintaining/increasing muscle mass and bone mineral accrual during growth.Objective and hypotheses: We aimed t...

hrp0084p2-408 | GH &amp; IGF | ESPE2015

Does Skeletal Disproportion in Children with Idiopathic Short Stature Influence Response to GH Therapy?

Cutfield Wayne S , Lindberg Anders , Hofman Paul , Derraik Jose , Geffner Mitchell E , Camacho-Hubner Cecilia

Background: Children with ISS have an array of causes that lead to short stature and/or poor growth velocity. Genetic causes of short stature, notably SHOX mutations, can be associated with subtle skeletal disproportion with shorter limbs, manifesting as increased sitting-to-standing height ratios or SDS.Objective and hypothesis: Children with ISS and skeletal disproportions have a diminished growth response to GH treatment compared to chi...

hrp0084p2-437 | Gonads | ESPE2015

Implementation of a High Sensitive LC-MS/MS Method for Measurement of Oestradiol, Oestrone and Oestriol

Kulle Alexandra , Reinehr Thomas , Simic-Schleicher Gunter , Roscheswsky Jule , Welzel Maik , Holterhus Paul-Martin

Background: Specific measurement of low serum/plasma concentrations of 17β-oestradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. The role of oestrone (E1) and oestriol (E3) is not as comprehensively well understood in different pediatric endocrine disease states. We describe a method for high sensitivity analysis of estradiol (E2), oestrone (E1) and oestriol (E3) using LC-MS/MS.Objective and hypothes...

hrp0084p3-588 | Adrenals | ESPE2015

Case Report: Hypothyroidism and Acth-Deficiency Caused by TBX 19 Mutation Coincidence or Pathogenetic Correlation?

Schulz Esther , Akkurt Halit Ilker , Muhlhausen Chris , Santer Rene , Welzel Maik , Holterhus Paul Martin

Background: Congenital isolated ACTH-deficiency is a rare disorder characterized by low plasma ACTH and cortisol levels and normal secretion of other pituitary hormones. TBX19 is a t-box transcription factor with a specific role in the differentiation of corticotroph cells. TPIT gene mutations can be found in early onset isolated ACTH deficiency.Case report: We report on a 2; 6 year old girl, offspring from consanguineous parents from Turkey, born at 40 ...