hrp0082p1-d1-235 | Thyroid | ESPE2014

A Nonsense Thyrotropin Receptor Gene Mutation (R609X) is Associated with Congenital Hypothyroidism and Heart Defects*

Cangul Hakan , Bas Veysel Nijat , Saglam Yaman , Kendall Michaela , Barrett Timothy G , Maher Eamonn R , Aycan Zehra

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...

hrp0082p2-d1-262 | Adrenals & HP Axis | ESPE2014

Mutation Spectrum of CYP11B1 Gene in Turkish Patients with 11β-hydroxylase Deficiency

Kandemir Nurgun , Yilmaz Didem Yucel , Gonc E Nazli , Ozon Z Alev , Alikasifoglu Ayfer , Dursun Ali , Ozgul R Koksal

Background: Deficiency of 11β-hydroxylase is the second most frequent type of congenital adrenal hyperplasia and more common in Turkey than other populations.Objective and hypotheses: The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish population.Method: 17 patients from 13 families are included in this study. Diagnosis was based on virilisation and high levels of 11-deoxycortisol. 15 case...

hrp0082p2-d2-432 | Growth Hormone (1) | ESPE2014

Growth Hormone Treatment in Children with SGA During a 5-Year Period, Assessment of Auxological Development and Insulin Resistance

Lopez-Siguero J P , Martinez-Aedo M J , Bermudez J A , Cabrinety N , Bosch J , Lechuga J L , Torralba R

Background: Treatment with GH of children born SGA allows an increase in growth velocity (GV) and improves adult height. Increased insulin resistance has been described in these patients, which reverts after interrupting GH administration. However, long-term metabolic consequences are not clearly established.Objective and hypotheses: Describe insulin resistance (HOMA-IR index) and auxological development (GV and height) in SGA children treated with GH fo...

hrp0084p1-37 | Diabetes | ESPE2015

Hyperthyroidism in 276 Children and Adolescents with Type 1 Diabetes from Germany and Austria

Dost Axel , Rohrer Tilman R , Frohlich-Reiterer Elke , Bollow Esther , Karges Beate , Bockmann Andreas , Hamann Johannes , Holl Reinhard W

Background and aims: Little is known about the incidence and clinical consequences of hyperthyroidism in paediatric patients with type 1 diabetes mellitus (T1DM).Methods: We analysed the DPV database to investigate the rate of hyperthyroidism in paediatric T1DM patients, its impact on metabolic control, and potential associations with other autoimmune diseases.Results: Hyperthyroidism was found in 276/60,456 patients (0.46%) and wa...

hrp0084p2-460 | Growth | ESPE2015

Individuals with Cow’s Milk Allergy are at Risk for not Reaching their Growth Potential

Sinai Tali , Amitzur-Levy Roni , Nachshon Liat , Yihye Tamar , Goldberg Michael R , Monsonego-Ornan Efrat , Katz Yitzhak

Background: Poor growth and inadequate nutrient intake by food allergic children have been suggested, particularly for children avoiding milk.Objective and hypotheses: To investigate the impact of a dairy-free diet on the final stature of IgE-mediated Cow Milk Allergy (IgE-CMA) young adults.Method: Anthropometric data was measured in 60 IgE-CMA patients (20.4±3.4 years old, 26 males (43%)) and 36 volunteers without IgE-CMA (co...

hrp0094p1-110 | Adrenal B | ESPE2021

Current Management Of Acute Adrenal Insufficiency Related Adverse Events In Children- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , Krone Nils P. , Grinten eHedi L. Claahsen-van der , Ahmed S. Faisal ,

Background: >There is a wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Three groups of ...

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...

hrp0094p2-317 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Noonan syndrome patients with short stature at a single pediatric endocrinology centre

Deyanova Y. , Iotova V. , Tsochev K. , Stoyanova M. , Stoicheva R. , Mladenov V. , Bazdarska Y. , Galcheva S. , Zenker M. ,

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

hrp0097rfc6.3 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

Exposure to Per- and Polyfluoroalkyl Substances and Pubertal Assessment by Ultrasound in Norwegian Boys and Girls: Data from the Bergen Growth Study 2

Halsør Forthun Ingvild , Roelants Mathieu , Småstuen Haug Line , Katrine Knutsen Helle , Særvold Bruserud Ingvild , Benedikt Juliusson Petur

Background and aim: Per- and polyfluoroalkyl substances (PFAS) are a group of synthetic chemicals found in everyday consumer products. These chemicals are considered endocrine disruptive. However, their effect on pubertal onset and development is still unclear. The aim of the current study was therefore to explore the relationship between PFAS exposure and pubertal development using novel objective pubertal phenotyping, e.g., ultrasound-determined testicular v...

hrp0097rfc14.1 | Late Breaking | ESPE2023

Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene

Çayır Atilla , Demirbilek Huseyin , Nuri Ozbek Mehmet , Kurt lknur , Karaoglan Murat , Albayrak Serpil , Nuri Dundar Bumin , Guran Tulay

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...