hrp0086p2-p168 | Bone & Mineral Metabolism P2 | ESPE2016

A Case of Genetically Proven Carbonic Anhydrase II Deficiency

Todorova Zdravka , Stefanova Elissaveta , Kazakova Krasimira , Yordanova Desislava , Litvinenko Ivan

Background: Carbonic anhydrase II (CAII) deficiency is extremely rare (<1:1 000 000) autosomal recessive disease, which is characterized by the triad of osteopetrosis, basal ganglia calcifications and renal tubular acidosis. In addition short stature, facial dysmorfism and different degree of mental retardation are possible features. Different mutations of the gene for CAII on 8q21.2 lead to impaired enzyme activity and typical clinical, biochemical and imaging manifestati...

hrp0084p2-346 | Fat | ESPE2015

Metformin Treatment for Obese Children and Adolescents with Insulin Resistance

Todorova Zdravka , Stefanova Elissaveta , Kazakova Krasimira , Yordanova Desislava

Background: Obesity in children is already a global health problem. Obese children and adolescents with insulin resistance provide the pediatric healthcare professionals management challenge. Obesity with insulin resistance, dyslipidemia and elevated blood pressure constitute the metabolic syndrome and each of these is an independent risk factor for cardiovascular disease (CVD). Metformin is well-established oral hypoglycaemic agent in the treatment of adult and young patients...

hrp0084p3-674 | Bone | ESPE2015

25-Hydroxy Vitamin D Levels in Patients with Chronic Diseases on Corticosteroid Treatment

Yordanova Desislava , Stefanova Elissaveta , Kazakova Krasimira , Todorova Zdravka , Dimitrova Mihaela

Background: Corticosteroids are medicines that are used to treat many chronic diseases. They are very effective anti-inflammatory drugs by suppressing the immune system, and are also used as a replacement therapy in conditions with low levels of endogenous cortisol. Glucocorticoid effects on bone metabolism include: reduced absorption of calcium in the intestine; increased calcium urinary excretion; increased bone resorption and reduced bone density. Corticosteroid treatment i...

hrp0084p3-1032 | Growth | ESPE2015

Impact of Recombinant Human GH on Height in Children with Chronic Kidney Disease

MIteva Polina , Roussinov Dimitar , Stefanova Elissaveta , Shumnalieva Russka

Background: Chronic kidney disease (CDK) is one of the most common indications for treatment with recombinant human GH (rhGH).Objective and hypotheses: The aim of our study was to investigate the effect of rhGH therapy in pediatric patients with different stages of CKD.Method: 49 children (35 boys and 14 girls) aged from 0–18 years (mean age 9.01±4.28) with proven CKD and height retardation were treated with rhGH by a sin...

hrp0082p3-d1-629 | Adrenals &amp; HP Axis | ESPE2014

Clinical and Genetic Diagnosis of Allgrove Syndrome

Todorova Zdravka , Stefanova Elissaveta , Litvinenko Ivan , Kazakova Krasimira , Yaneva Penka , Yordanova Desislava , Dimitrova Mihaela

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...

hrp0082p3-d1-631 | Adrenals &amp; HP Axis | ESPE2014

Homozygous c.923dupT Combined with Heterozygous c.334G>A CYP21A2 Mutation: a Case Report from the Bulgarian CAH Screening Programme

Kostova Antoaneta , Stoeva Iva , Kirov Andrey , Dineva Ganka , Todorov Tihomir , Todorova Albena , Stefanova Elissaveta , Kazakova Krassimira , Aroyo Ani , Mitev Vanio

Background: This case underlines the importance of a newborn screening programme combined with genotyping for confirmation and prognosis of disease severity.Objective and hypotheses: Case presentation of a girl with three CYP21A2 mutations.Method: Girl, born from first uneventful pregnancy per vias naturalis. Birthweight 3200 g, birthlenght 50 cm. Intensive jaundice, start at d3, necessitating phototherapy. Discharged from...

hrp0084p1-149 | Miscelleaneous | ESPE2015

Recombinant Parathyroid Hormone (1-34) Replacement Treatment of Hypoparathyroidism in the Alfacalcidol-Resistant Patient with Severe Autoimmune Polyendocrinopathy Syndrome Type 1

Sozaeva Leila , Orlova Elizaveta , Kareva Maria

Background: Hypoparathyroidism (HPT) is present in 80% of patients with Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1) – rare monogenic complex disease characterized also by adrenal failure, chronic candidiasis and a spectrum of other autoimmune disorders, including enteropathy and malabsorbtion. Active vitamin D and calcium are currently used for HPT treatment to maintain normal serum calcium levels.Objective and hypotheses: To describe a se...

hrp0084p3-597 | Adrenals | ESPE2015

Generalised Glucocorticoid Resistance in an Adolescent Girl with Severe Hyperandrogenia without Mutations in NR3C1 Gene

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria

Background: Generalised glucocorticoid resistance (Chrousos syndrome) is a rare inherited disease characterized by tissue insensitivity to glucocorticoids and associated with defects in human glucocorticoid receptor (hGR) gene (NR3C1, 138040). Despite of elevated serum and urine cortisol the patients do not develop clinical picture of Cushing syndrome but present with hyperandrogenia and hypertension.Case presentation: We present a case in which clinical...

hrp0084p2-303 | DSD | ESPE2015

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

Janchevska Aleksandra , Idkowiak Jan , Caredda Elisabeta , Hurst Jane , Dattani Mehul T , Arlt Wiebke , Spoudeas Helen A

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

hrp0089p3-p052 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

A Rare Case of Familial Hypocalcemia

Sozaeva Leila , Yanar Eda , Tiulpakov Anotoly , Kareva Maria , Orlova Elizaveta

Objectives: Familial hypocalcemia is a rare autosomal dominant disease characterized by hypercalciuric hypocalcemia. The disorder is caused by heterozygous mutation in the CASR gene that encode a calcium-sensing receptor in parathyroid glands and kidney tubules.Clinical case: The boy was born at term from non-consanguineous parents with normal length and weight. On the second day of life he was admitted to an intensive care department with convu...