hrp0092ern1.1 | (1) | ESPE2019

Life Long Management of Childhood Craniopharyngioma

Müller Hermann L.

Craniopharyngiomas (CP) are rare, partly cystic and calcified embryonic malformations of the sellar/parasellar region with low histological grade (WHO Io). A bimodal age distribution has been shown, with peak incidence rates in childhood-onset at 5–14 yr and adult-onset CP at 50–74 yr. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight in molecular pathogenesis of CP opens...

hrp0086p1-p112 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Health and Body Composition in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , Shepherd S , McMillan M , Ahmed S F , Shaikh M G

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

hrp0082p3-d1-632 | Adrenals & HP Axis | ESPE2014

Secondary Pseudohypoaldosteronism Type 1: the Role of a Urinary Steroid Profile

Grace M L , Murray D M , Joyce C , Taylor N F , Ghataore L , O'Connell S M

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

hrp0082p3-d3-748 | Diabetes (4) | ESPE2014

Monogenic Diabetes in a Paediatric Population: Finding the Needle in the Haystack

Mavinkurve M , Johnston N , Carroll A , Donnell C Mc , Byrne M M , Murphy N P

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...

hrp0097p1-262 | Fat, Metabolism and Obesity | ESPE2023

16p11.2 microdeletion: a common copy number variation (CNV) identified in a Portuguese pediatric cohort with syndromic obesity.

Rosmaninho-Salgado Joana , B. Sousa Sergio , M. Pires Luis , Ferreira Susana , B. Melo Joana , M. Carreira Isabel , M. Saraiva Jorge

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...

hrp0089p3-p271 | Multisystem Endocrine Disorders P3 | ESPE2018

Polyostotic Fibrous Dysplasia of McCune Albright Syndrome Responding to Intravenous Zoledronate Therapy

H K Ganesh , K M Girisha

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....

hrp0086p1-p690 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Fludrocortisone: A Treatment for Tubulopathy Post Paediatric Renal Transplantation – A Scottish Study

Rashid Salma , Athavale Deepa , Shaikh M Guftar

Background: Post renal transplantation, tubulopathies may occur as an effect of transplantation itself or secondary to the use of immunosuppressive regimes. This often requires administration of large doses of sodium bicarbonate and sodium chloride, resulting in poor compliance. Adult studies have shown the advantages of fludrocortisone in the treatment of severe tubulopathies post renal transplant. There is limited data in children. We report our experience from a tertiary pa...

hrp0086p2-p881 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Structure of Genetically Determined Types of Short Stature in Uzbekistan According to Retrospective Analysis

Ibragimova N.Sh. , Dalimova D.A. , Mirkhaidarova M.

Background: Stunting in children is a heterogeneous state. Many endocrine, somatic, genetic and chromosomal diseases are accompanied by stunting. It can adversely affect indicators of the final height of the child; therefore timely diagnostics and treatment stunting is very important.Objective and hypotheses: To carry out a retrospective analysis of case histories of children and adolescents with genetically determined types of short stature who admitted...

hrp0082p3-d1-662 | Bone | ESPE2014

Hypercalcemia due to Subcutaneous Fat Necrosis in a Newborn Successfully Treated with Pamidronate Infusion Therapy

Atas Ali , Geter Suleyman , Emin Guldur M

Introduction: Subcutaneous fat necrosis (SFN) of the newborn is an inflammatory disorder of the adipose tissue that rarely disease which may be complicated with potentially life-threatening hypercalcemia. The etiology of hypercalcemia was related to persistently elevated 1,25-dihydroxyvitamin D3 levels.Case: The case 47 days (length 0.3 SDS; weight −1.48 SDS) who presented sucking difficulty and debility duo to hypercalcemia with an init...