hrp0089p3-p228 | Growth & Syndromes P3 | ESPE2018

Children Born Small for Gestational Age: Catch-up Growth During the First Four Years of Life

Freijo Martin Concepcion , Bertholt Zuber Laura , Palenzuela Revuelta Inmaculada

Children born small for gestational age (SGA) have a weight and/or heighth less than −2SD from the mean, the realization of an adequate catch-up or not during the first years is important and the growth assessment is required.Objective: Analyze Catch-up on Growth of 52 SGA children during the first 4 years of life, compared 23 children who performed it properly (AC) with 19 who did not recover (NAC).Methods: Retrospective stu...

hrp0086fc8.2 | Growth: Clinical | ESPE2016

Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI)

Shapiro Lucy , Savage Martin , Davies Kate , Metherell Lou , Storr Helen

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF-1 and normal/elevated serum growth hormone (GH) (basal level >5 μg/L and/or peak on provocation testing >10 μg/L). In a significant number of children the molecular cause is unknown.Objective: To investigate the genetic etiology of GHI in a cohort of children by candidate gene (CGS) and whole exome (WES) sequencing.Methods: About 109 pati...

hrp0086p1-p695 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

CANDLE Syndrome: A New Autoinflammatory Lipodystrophic Disorder with Challenging Diagnosis and Limited Therapeutic Options

Boyadzhiev Martin , Boyadzhiev Veselin , Marinov Luchezar , Iotova Violeta

Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height – 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.Objective and hypotheses: Laboratory inve...

hrp0086p1-p815 | Syndromes: Mechanisms and Management P1 | ESPE2016

6-Year-Old Girl with Mutation in DNMT3A – A New Overgrowth Syndrome

Ronholt Ann-Margrethe , Boxil Martin , Jensen Uffe , Hertz Birgitte

Background: Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth and other clinical features. Overgrowth may be apparent at birth and can be static or progressive. Some syndromes are associated with increased tumor risk.Objective and hypotheses: A 6-year-old girl with accelerated growth rate was referred. She was born at term and was 55 cm long at birth (+2.4 SD). At 6 years, she was 134.4 cm tall (+3.7 SD) with ...

hrp0082p1-d3-134 | Fat Metabolism & Obesity (2) | ESPE2014

Can Hypothalamic Obesity be Treated with Stimulants?

Denzer Friederike , Lennerz Belinda , Denzer Christian , Wabitsch Martin

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine on impetus and weight in patients with hypothalamic obesity.Objective and hypotheses: We aimed to observe these effects in our patients who are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2013, patients starting dexamphetamine treatment were enrolled in a prospective observation study. BMI–SDS wa...

hrp0082p2-d2-599 | Thyroid (1) | ESPE2014

Severe Urticaria in Graves’ Disease: is Carbimazole to Blame?

Ponmani Caroline , Mcclatchey Martin , Kanzaria Shilpa , Keane Morgan , Banerjee Kausik

Background: Carbimazole is widely used in the treatment of Graves’ disease and is well tolerated but can produce adverse effects in 5% of cases. Urticaria, which can develop as a drug reaction to carbimazole responds to withdrawal of the drug and symptomatic management. Urticaria is also a rare manifestation of thyrotoxicosis and does not respond to treatment, but regresses rapidly with the control of underlying hyperthyroidism.Objective and hypothe...

hrp0082p3-d2-784 | Fat Metabolism & Obesity (1) | ESPE2014

A New Lipodystrophy Syndrome?

von Schnurbein Julia , Fischer-Posovszky Pamela , Garg Abhimanyu , Wabitsch Martin

Background: Congenital generalized lipodystrophy (CGL) is characterized by the absence of most adipose tissue at birth due to an adipocyte differentiation block. For several forms of CGL, the underlying mutation and pathophysiological pathway has been identified. However, for many cases the genetic cause is still unknown.Objective and hypotheses: We report a patient with CGL who showed a complete absence of fat apart from protective fat pads in a postnat...

hrp0082p3-d3-802 | Gonads and Gynaecology | ESPE2014

The Effects of Rhythmical Massage Therapy and Heart Rate Variability-Biofeedback on Primary Dysmenorrhea a Qualitative Study

Boning Anna , Karutz Aurelia , Vagedes Jan , Berger Bettina , Martin David

Aim: This study investigated rhythmical massage therapy (RMT) and heart rate variability-biofeedback (HRV) to treat dysmenorrhea.Methods: As a part of a randomized controlled trial, 60 patients were allocated to one of the two intervention groups or the crossover control group. For the qualitative study, before and after the 3-month intervention, the women drew their pain into a body silhouette. With the aid of these drawings, half-structured interviews ...

hrp0084p1-49 | Diabetes | ESPE2015

Can Hypothalamic Obesity be Treated with Stimulants? Follow Up

Denzer Friederike , Lennerz Belinda , Vollbach Heike , Denzer Christian , Wabitsch Martin

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine, a CNS stimulant on impetus and weight in patients with hypothalamic obesity. Based on these observations, patients presenting to our obesity clinic with hypothalamic obesity are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2015, patients starting dexamphetamine treatment were enrolled in a prospective observation study. A r...

hrp0084p1-115 | Puberty | ESPE2015

Clinical Guidance on 17β-Oestradiol and LH Serum Levels in Girls with Premature Thelarche Based on Clinical Outcome of 129 Girls Aged up to 4 Year with Premature Thelarche in West Sweden

Osterbrand Martin , Alvin Kerstin , Fors Hans , Norjavaara Ensio

Background: Simple clinical investigations to differ harmless premature thelarche (PT) from pubertal precocity and other pathological conditions are needed as PT is a common condition in girls under the age of 3–4 year.Objective and hypotheses: Since 17β-oestradiol (17β-E2) is the major driver of breast development, the hypothesis is, that it is possible to define an upper serum 17β-oestradiol (17β-E2) level for harmless PT in gi...