hrp0089p3-p039 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Carbonic Anhydrase Deficiency: Three Siblings

Buluş Derya , Tayfur Aslı Celebi , Yılmaz Deniz

Introduction: The carbonic anhydrase II (CA II) deficiency syndrome is a rare autosomal recessive disorder associated with osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification (CADS; autosomal recessive osteopetrosis type 3). Other features include visual and auditory impairment, short stature, a large cranial vault, history of multiple skeletal fractures, developmental delay and cognitive defects, anemia, splenomegaly and secondary erythropoiesis. We report...

hrp0089p2-p269 | Growth & Syndromes P2 | ESPE2018

Case Report: Ellis Van Creveld Syndrome With a Novel Mutation

Sobu Elif , Demirkol Yasemin Kendir , Yılmaz Gulay Can , Ozcora Gul Demet , Yenigurbuz Fatma

Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0082p3-d2-854 | Growth (3) | ESPE2014

Descriptive Analysis of Medication Adherence for Patients Treated with GH Therapy

Michels S L , Uribe C , Li Y , Meletiche D M , Velez F F , Locklear J C

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

hrp0084p3-600 | Adrenals | ESPE2015

A Double Dose of Triples

Nagesh V Sri , Reddy Y Muralidhar , Ranganath Prajnya , Aggarwal Shagun , Reddy Vikrant

Background: 14½ year old girl presented with increased skin pigmentation, weakness of limbs and walking difficulty and delayed puberty.Objective and hypotheses: To evaluate the girl for the aetiology of hyperpigmentation, neuromuscular weakness and delayed development of secondary sexual characters.Method: The girl was evaluated by neurologist and found to have development delay, sensory and motor neuropathy, ataxia, amyotroph...

hrp0094p2-101 | Diabetes and insulin | ESPE2021

Disturbances of glucose homeostasis in polytransfused beta-thalassemia patients

Mustapha Noumi , N Khelafi , Y Ferhani , S Sokhal , R Terrak , R Boukari ,

Introduction: β-thalassemia is a hereditary chronic hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East (1) Transfusion programs and chelating therapy have greatly extended the life expectancy of patients (2). This has led to an increase in the prevalence of endocrine complications, linked to iron overload (3) including abnormalities in gluco...

hrp0095fc11.6 | Late Breaking | ESPE2022

The follicle-stimulating hormone receptor is expressed in human pancreatic islet beta-cells and its activation increases glucose stimulated insulin secretion

Aydin Banu K. , Chowdhury Azazul , Incedal Ceren , Wen Quan , Cerenius Sara Y. , Stenlid Rasmus , Forslund Anders , Idevall Olof , Bergsten Peter

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...

hrp0095rfc11.1 | Late Breaking | ESPE2022

Six-months of treatment with exenatide improves glycemic control, but does not affect endogenous intact GLP-1 concentrations in adolescents with obesity

Stenlid Rasmus , Y. Cerenius Sara , K. Aydin Banu , S. Gjessing Erik , Manell Hannes , Weghuber Daniel , Forslund Anders , Bergsten Peter

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...

hrp0095p1-179 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Loss of function of FIGNL1, a DNA damage response gene, is a novel cause of human ovarian dysgenesis

Florsheim Natan , Naugolny Larisa , Renbaum Paul , Lobel Orit , Y. Gold Merav , Goldberg Michal , Levy-Lahad Ephrat , Zangen David

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...

hrp0089p3-p377 | Thyroid P3 | ESPE2018

A Very Rare Thyroid Hormone Resistance Case Having Heterozygous Mutation in THRB Genes

Keskin Mehmet , Yılmaz Seniha Kiremitci , Kaplan Emel Hatun Aytac , Karaoğlan Murat , Karaer Kadri , Keskin Ozlem

Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.<p class="ab...