hrp0089p3-p237 | Growth & Syndromes P3 | ESPE2018

Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman Betul , Celegen Kubra , Korkmaz Emine , Lafci Naz Guleray , Balik Zeynep , Demirbilek Huseyin , Duzova Ali

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

hrp0094p2-29 | Adrenals and HPA Axis | ESPE2021

Fludrocortisone is the salvage treatment in cases with calcineurin inhibitor related hyperkalemia

Unsal Yagmur , Baltu Demet , Gulhan Bora , Visal Okur Fatma , Duzova Ali , Ozon Alev , Topaloğlu Rezan , Gonc Nazlı ,

Calcineurin inhibitors (CNIs) are widely used in pediatric transplantation for prevention of graft rejection, prophylaxis and treatment of graft versus host disease. Though hyperkalemia is a common adverse effect (10-45%), alterations in renin-angiotensin-aldosterone system in CNI-induced hyperkalemia are not well elucidated. Consequently, CNIs vital to transplantation are usually switched. Here, we describe two cases with CNI-induced hyperkalemia due to hyporeninemic hypoaldo...

hrp0094p2-13 | Adrenals and HPA Axis | ESPE2021

Utilisation Of The I-CAH Registry As A Tool For Facilitating Health Quality Improvement Strategies- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , McMillan Martin , O’Connell Michele , Davies Justin H. , Ahmed S. Faisal ,

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

hrp0084p3-822 | Endocrine Oncology | ESPE2015

Galactocele: A Rare Case of Breast Enlargement Among Children

Jabari Moslah Ali

Background: A galactocele is a retention cyst containing milk or a milky substance that is usually located in the mammary glands caused by a protein plug that block off the outlet. It is seen in lactating women on cessation of lactation and rarely in infants and children. It presents as a large, soft, fluctuating lump in the lower part of breast. This paper is intended to report a case of Galactocele in one of the paediatric patient.Case presentation: Ga...

hrp0094p2-433 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Novel mutation in an iranian family with 17-β hydroxysteroid dehydrogenase type 3 deficiency

Saffari Fatemeh , Homaei Ali

We report a large family with several cases of 46 XY and a new mutation in the 17-β-HSD3 gene.The proposita was an 11-year-old girl and the first child of a consanguineous family. She was born by cesarean section with a height of 52 cm and a weight of 4200 grams. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. Other physical examinations were n...

hrp0094p2-276 | Growth hormone and IGFs | ESPE2021

Growth Hormone Resistance; The Iraqi experience

Al-Jumaili Ali ,

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous ...

hrp0089p3-p416 | Diabetes & Insulin P3 | ESPE2018

A Rare and Unexpected Cause of Diabetes in Childhood

Makaya Taffy , Basu Supriyo , Ali Aishatu

Background: Pancreatogenic diabetes is rare in children. The prevalence is 5–10% of all cases of diabetes in the developed world. The underlying pathophysiology is destruction of islet cells by pancreatic inflammation.Case: A 15-year old previously healthy boy presented with polyuria, polydipsia, abdominal pain and loss of weight (LOW) over several weeks. Family history revealed a three-generational history of diabetes including reported type-1 (T1D...

hrp0082p1-d1-61 | Diabetes | ESPE2014

Evaluation of S-100B, Antioxidant and Oxidative Capacity Before and After the Treatment in Children with Diabetic Ketoacidosis

Kaya Cemil , Atas Ali , Aksoy Nurten

Background: Diabetic ketoacidosis is a serious condition with high rates of morbidity and mortality in children with type 1 diabetes mellitus. Calcium-binding protein S100B is a cell damage marker glycopeptide that is mainly produced by astrocytes. Oxidative stress might be defined as an imbalance between anti-oxidative defense of the body and free radical production responsible for peroxidation of lipid layer of cell walls.Objective and hypotheses: In p...

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...

hrp0082p3-d2-738 | Diabetes (3) | ESPE2014

When Should We Suspect Maturity Onset Diabetes of the Young in Children and Adolescents

Mohamed Sarar , Talaat Iman , Hellani Ali

Background: The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown and data on molecular etiology of this condition is limited.Objective and hypotheses: The present study was undertaken to elucidate the clinical and molecular characteristics of a Saudi family with MODY1.Method: A 12-year-old female presented to us with symptoms suggestive of diabetes. Investigations revealed hyperglycemia,...