hrp0089p3-p051 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Clinical and Genetic Evaluations of Three Patients with Vitamin D Dependent Rickets Type 1A

Kulikova Kristina , Kolodkina Anna , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

hrp0086rfc2.1 | Bone & Mineral Metabolism | ESPE2016

25-OH-Vitamin D Status in a Pediatric Population of Subjects Affected By Prader-Willi Syndrome Compared to Matched Obese Controls

Fintini Danilo , Pedicelli Stefania , Bocchini Sarah , Bizzarri Carla , Grugni Graziano , Cappa Marco , Crino Antonino

Background: Obesity is usually correlated with a higher prevalence of 25OH vitamin D (25OHD) deficiency. This might be due to either volumetric dilution of vitamin D in the large fat mass or its increased uptake by adipose tissue. To our knowledge, a systematic study on 25OHD levels in Prader-Willi syndrome (PWS), a genetic disorder associated with severe obesity, is not available.Objective and hypotheses: To analyze the 25OHD values in a population of p...

hrp0086rfc2.2 | Bone & Mineral Metabolism | ESPE2016

Duration of Exclusive Breastfeeding: ‘Game Changer’ in a Sex-Specific Association Between Cord Vitamin D Status and Infant Linear Growth

Christensen Anna Mathilde Egelund , Beck-Nielsen Signe , Dalgard Christine , Larsen Sos Dragsbaek , Lykkedegn Sine , Christesen Henrik Thybo

Background: Vitamin D deficiency in children clinically manifests as rickets causing growth impairment and bowing of the long bones, potentially increasing the ratio between crown-rump length and length (CRL:L) or sitting height and height (SH:H).Objective and hypotheses: We investigated whether CRL:L in 19-months-olds and SH:H in 36-months-olds were lower with higher cord 25hydroxyvitamin D (25OHD).Method: Participants were includ...

hrp0082p2-d3-310 | Bone (2) | ESPE2014

Outcomes of Vitamin D Analogues and Phosphate Supplements in Patients With Hereditary Hypophosphatemic Rickets , Comparison With Non-Treated Patients

Boros Emese , Rothenbuhler Anya , Heinrichs Claudine , Brachet Cecile , Esterle Laure , Kamenicky Peter , Harvengt Pol , Brailly-Tabard Sylvie , Haidar Hazar , Gaucher Celine , Silve Caroline , Gossiome Charles , Wicart Philippe , Duplan Martin Biosse , Courson Frederic , Chaussain Catherine , Linglart Agnes

Background: Hereditary Hypophosphatemic Rickets (HHR) is caused by persistently elevated FGF23 resulting in renal phosphate wasting and decreased 25 vitamin D hydroxylation. Treatment with vitamin D analogues (VDA) has been added to phosphate supplements in the late seventies.Objective and hypotheses: Our objective was to evaluate the outcomes of VDA and phosphate supplements in adult patients with HHR in comparison with patients who did not receive VDA ...

hrp0084p2-220 | Bone | ESPE2015

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D Dependent Rickets Type I

Tahir Sophia , Demirbilek Huseyin , Ozbek Mehmet Nuri , Baran Riza Taner , Tanriverdi Sibel , Hussain Khalid

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

hrp0084p3-953 | GH & IGF | ESPE2015

Vitamin D Levels and not Vitamin A are Correlated with Height Velocity in Children with GH Deficiency Who are Under GH Treatment

Xatzipsalti Maria , Polychroni Ioulia , Vazeou Andriani , Maravelia Vasiliki , Papadimitriou Eirini , Stamogiannou Lela

Background: It has been suggested that Vitamin A intake may affect height velocity in children with GH deficiency (GHD) who were under GH replacement (GHR).Objective and hypotheses: Aim of the study was to evaluate vitamin A levels in GHD children under GHR.Method: Vitamin A levels were measured in 38 children (23 males, mean age 10.8 (S.D. 3.3) years) with GHD, after mean duration of GH treatment of 3.1 (S.D....

hrp0092p1-9 | Adrenals and HPA Axis | ESPE2019

A Simulation-based Intervention Teaching Illness Management Skills to Caregivers of Children with Adrenal Insufficiency: a Randomised Controlled Study

Virtanen Heidi , Pyra Eileen , Schawrz Wendy , Catena Helen , Cripps Amy , Grant Vincent , Cheng Adam , Perry Rebecca

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

hrp0082fclb2 | Late Breaking Abstracts | ESPE2014

Sonic Hedgehog is Required for Cell Specification of Rathke’s Pouch Progenitors During Normal Development and is Over-Expressed in Adamantinomatous Craniopharyngioma

Carreno Gabriela , Andoniadou Cynthia , Heywood Wendy , Mills Kevin , Dattani Mehul , Martinez-Barbera Juan Pedro

Background: Mouse studies have demonstrated the necessity of Sonic Hedgehog (SHH) for normal proliferation of Rathke’s pouch (RP) precursors. However, the possible function of SHH in pituitary cell specification remains to be assessed. Additionally, evidence suggests that SHH may be relevant in human adamantinomatous craniopharyngioma (ACP), a histologically benign, but clinically aggressive childhood tumour associated with high morbidity.Objective ...

hrp0082p1-d3-18 | Adrenals & HP Axis (1) | ESPE2014

Zenhale Inhaled Corticosteroid Therapy: Useful Second Line Therapy for Asthma in Children but be Wary of Adrenal Suppression

Perry Rebecca , Schwarz Wendy , Stosky Karen , Dawrant Jonathan , Pacaud Daniele , Noseworthy Mary , Anselmo Mark

Background: Children with Asthma who do not respond to first-line therapy may need inhaled corticosteroid-long-acting beta agonist combination (ICS-LABA) therapy. Adrenal insufficiency (AI) due to adrenal suppression is a recognized but relatively uncommon side effect of ICS. An increase in suspected cases of AI associated with one particular ICS-LABA, mometasone-formoterol (Zenhale) was observed at a tertiary care Asthma clinic over a 6-month period.Obj...

hrp0084p2-438 | Gonads | ESPE2015

Gonadal Function in the Prader-Willi Syndrome from Infancy to Adulthood

Kherra Sakina , Kourime Mariam , El-Sedfy Heba , Paterson Wendy , Shaikh M Guftar , Donaldson Malcolm

Background: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...