ESPE Abstracts

ESPE Abstracts

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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 3

Bone, Growth Plate and Mineral Metabolism

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Adrenals and HPA Axis
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Diabetes and Insulin

hrp0092p3-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Linear Growth in Children with COW Milk Allergy and their Response to Hypoallergenic Diet; Significant Catch-Up in the First 6 Months

Shaat Mona , Soliman Ashraf , Itani Maya , Jour Celine , Elsiddig Sohair , Souieky Fatima , Al-Naim Noora , Ehlayel Mohammad

Introduction: Milk allergy is an adverse immune reaction to proteins in cow's milk. Treatment consists of eliminating milk from the diet. Controversy exists about the effect of CMA and the use of hypoallergenic formula on linear growth in these children.Objectives: To evaluate the growth status of children with CMA at their first presentation and after 6 months of hypoallergenic formula.<strong...
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hrp0092p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Extreme Hypercalcaemia: Watch for Glycogen Storage Disease Type 1a with Hyperinsulinism

christesen henrik , Nielsen Rasmus G , Lund Allan M , Cananguez Arlen A , Schou Anders J

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...
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hrp0092p3-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

ENPP1 Hypophosphatemic Rickets in a 3.6 Years Old Italian Child

Tessaris Daniele , Abrigo Enrica , Tuli Gerdi , Matarazzo Patrizia , de Sanctis Luisa

Introduction: Although vitamin D deficit is the most common cause of rickets there are many rare genetically transmitted forms as hypophosphatemic rickets, a family of hereditary diseases characterized by low phosphorous plasma levels and resistance to 25OH-vitamin D replacement.Case report: This is the case of a 3.6 year-old Italian child sent from the General Pediatrician, for rickets suspicion. Silent personal history...
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hrp0092p3-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Case Study of X-linked Hypophosphataemia: The Effect of Conventional Therapy from Childhood to Adulthood in Saudi Arabia

Al-Sagheir Afaf

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, therapy includes daily oral phosphate and active vitamin D analogue (alfacalcidol or calcitriol) supplementation, but is associated with gastrointestinal side...
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hrp0092p3-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Chinese Girl Suffered Both Osteogenesis Imperfecta and Mucopolysaccharidosis: Trio WES Could Tell us More

Zheng Zhangqian , Yang Lin , Lu Wei , Luo Feihong

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...
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hrp0092p3-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

In Case of Osteogenesis Imperfecta Transmission in Pregnancy: Check Vitamine D and Calcium Status of the Mother

Porquet-Bordes Valerie , Groussolles Marion , De Gauzy Jerome Sales , Edouard Thomas , Salles Jean Pierre

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...
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hrp0092p3-34 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Study of Response to Vitamin D Replacemet in North Korean Refugee Children and Korean Children

Hee Chung Myung , Hup Song Jung

Study of response to vitamin D replacemet in North Korean refugee children and Korean childrenMyung Hee Chung, MD., Ph.DDaegu Medical Center, Daegu Metropolitan city, KoreaJung Hup Song, MD., Ph.DKyungpook National university hosptal,Occupational Medicine, Public Health Dept.,Daegu, KoreaPurpose: It is well known that obesity and ...
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hrp0092p3-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Pseudohypoparathyroidism: Four Cases Reports

Bressiani Marina , Dall'Agnese Angélica , Godinho Adriana , Geremia César , Puñales Márcia

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease, characterized by parathyroid hormone (PTH) resistance and it refers to different mineral disorders of bone metabolism, classified as PHP type 1a (Albright-OHA Hereditary Osteodystrophy), PHP1b and PHP1c (OHA).Four cases reports: Four children were identified as having PHP, being three of them female. PHP was diagnosed at six years of age (three cases) and at...
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hrp0092p3-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Case of Robinow Syndrome

Anil Korkmaz Huseyin , Sen Askin

Introduction: Robinow syndrome is a rare autosomal recessive and autosomal dominant disorder affecting the whole skeletal system. Autosomal recessive robinow syndrome is characterized by shortness of the long bones and vertebra anomalies. Less than 200 cases of autosomal recessive robinow syndrome have been reported in the literature.Case: The newborn was referred to pediatric endocrine clinic for disorder of penis devel...
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hrp0092p3-37 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Abstract Unavailable....
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hrp0092p3-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Mild Hypophosphatasia in a Family with a Novel Mutation in the ALPL Gene

Hong Yong Hee , Chung Sochung

Introduction: Hypophosphatasia (HPP) is a rare autosomal recessive or dominant genetic disorder characterized by the abnormal development of bones and teeth and deficiency of tissue non-specific alkaline phosphatase activity. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. The specific symptoms can vary greatly from one person to another, sometimes even among membe...
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hrp0092p3-39 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Uncommon Association of Hypoparathyroidism and Rendu-Osler Syndrome

Iancu Mirela , Albu Alice , Patrascu Irina , Nicolaescu Irina , Prisacari Alina

Rendu-Osler-Weber syndrome (also called Hereditary Haemorrhagic Teleangiectasia) is an autosomal dominant disorder that results from multisystem vascular dysplasia. HHT syndrome has been described in association with autoimmune disorders, such as Hashimoto thyroiditis, lupus erythematosus, vitiligo, anti-phospholipidic syndrome and pernicious anaemia.We present the case of a 6 year old girl with Rendu-Osler-Weber syndrome who was referred for endocrinolo...
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hrp0092p3-40 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Barakat Syndrome (HDR Syndrome): Case Report

Bressiani Marina , Dall'Agnese Angélica , Geremia César , Godinho Adriana , Camassola Bruna , Puñales Marcia

Introduction: Barakat Syndrome (HDR Syndrome) is characterized by hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated to deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: A 9 years old male was admitted at an emergency complaining of upper and lower limbs pain and contractures that progressed with periodic tetany...
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hrp0092p3-41 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Myelofibrosis in Severe Vitamin D Deficiency Rickets: A Case Report

Magdy Omar Omneya , Hamed Amira

Background: Vitamin D deficiency is prevalent in infants and children in underdeveloped countries. Secondary myelofibrosis has been reported as a complication of severe rickets and in these children anemia, myeloid metaplasia and bone aplasia strongly suggested myelofibrosis.Case report: We report a case of myelofibrosis in two years old boy with severe vitamin D deficiency rickets and hepatosplenomegaly. He presented wi...
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hrp0092p3-42 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Congenital Hyperinsulinism in Kosova

Kotori Vjosa Mulliqi , Kotori Afrim

Congenital hyperinsulinism (CHI) is a rare inherited disease characterized by dysregulated insulin secretion from pancreatic β-cells leading to profound and recurrent hypoglycemia. The incidence of the disease in most countries worldwide is about 1 in 50000 newborns, and more frequent in countries with high consanguinity. Recurrent hypoglycemia can lead to neurological insult and permanent brain injury.In Kosova in the last 15 years there were 4 ...
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hrp0092p3-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

About a Case of Neonatal Hypocalcemia

Belli Gilda , Cecconi Antonella , Romano Silvia , Ciofi Daniele , Stagi Stefano

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...
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hrp0092p3-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Rare Case Report: Asymptomatic Hypercalcemia in Children with Lupus Nephritis Complicated with Parathyroid Adenoma

zhang jun , chen qiuli , guo song , ma huamei , li yanhong , chen hongshan , pu ronghui , du minlian

An 11-year-old boy came to our hospital on 2019-1-23 because of "discovered hypercalcemia for 4 months."Past History: The child has a history of lupus nephritis for 2 years, and currently oral prednisone 12.5mg qd, mycophenolic acid 0.25g q12h, tacrolimus 1mg q12h for treatment. The lupus activity index was reviewed once a month due to lupus nephritis. At present, SLEDAI (lupus activity score) is 2 points, and the condition is we...
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hrp0092p3-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Acute Lymphoblastic Leukemia;Atypically Presenting with Sever Hypercalcemia in a Palestinian Child

Eideh Hasan , Zaid Mahdi , Saleh Hani , Abu Alrub Shorouq

Severe hypercalcemia with total serum calcium concentrations above 15 mg/dL is a serious nonspecific life-threatening emerging disorder. Hypercalcemia usually results in nonspecific classic gastrointestinal and skeletal symptoms as anorexia, nausea, weakness, polyuria, constipation and bone pain. It can be associated with metabolic, nutritional, inflammatory, genetic or malignant disorders, or can be drug-induced. Malignancy related hypercalcemia develops more aggressively and...
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hrp0092p3-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth Hormone Treatment of a Patient with X-Linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...
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