hrp0084p2-277 | Diabetes | ESPE2015

Psychosocial Screening in Children with Type 1 Diabetes in Ireland

Hennessy Elena , Gallagher Patricia , Butler Triona , O'Toole Norma , O'Connell Susan M , O'Riordan Stephen M P

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...

hrp0084p2-430 | GH & IGF | ESPE2015

Analysis of CD133+CD45+ Hematopoietic Progenitor/Stem Cells and CD133+/CD45- Very Small Embryonic-Like Stem Cells in Children with GH Deficiency Subjected to GH Therapy

Bossowski A , Singh P , Grubczak K , Radzikowska U , Sawicka B , Miklasz P , Dabrowska M , Bossowska A , Moniuszko M

Background: GH deficiency (GHD) is an endocrine condition, caused by problems arising in the pituitary gland that does not produce sufficient quantities of GH. GHD is treated by replacing GH with one daily injections. Recent studies suggested that GH could be involved in regulation of certain stem cell subset potential and function. However, the exact effects of GH therapy on biology of stem cells in paediatric patients were not studied in detail.Methods...

hrp0084p3-715 | Diabetes | ESPE2015

Prevalence of Vascular Complications in Children with Type 1 Diabetes in Ireland

Butler Triona , Hennessy Elena , Gallagher Patricia , O'Toole Norma , O'Connell Susan M , O'Riordan Stephen M P

Background: Screening guidelines for vascular complications in children with type 1 diabetes (T1DM) are based on results from Diabetes Control and Complications Trial (DCCT) and its follow-up, the Epidemiology of Diabetes Interventions and Complications (EDIC) trial. These studies established conclusively that early and intensive diabetes care improves long-term outcomes.Objective and hypotheses: To establish screening practices and prevalence of vascula...

hrp0084p3-861 | Fat | ESPE2015

Decreased Insulin Sensitivity and Secretion in Obese Youth with High OGTT Derived 1 h Blood Glucose

Loredana M Loredana M , Marisi Elsa , Di Giovanni Ilaria , De Leonibus Chiara , Chiarelli Francesco , Mohn Angelika

Background: Obese adults with normal glucose tolerance (NGT) but 1-h post load glucose (1 hPG)≧155 mg/dl have an increased cardiometabolic risk. In children, preliminary data suggest that 1hPG≧132.5 mg/dl might identify those at higher risk of type 2 diabetes.Objective and hypotheses: To assess whether NGT obese youth with 1hPG ≧132.5 mg/dl (High-NGT) have worse insulin sensitivity and secretion compared to obese youth with 1hPG &#60...

hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

hrp0082p2-d1-512 | Pituitary | ESPE2014

Clinical Phenotype and Complications, Endocrinopathies and Neuroimaging Findings in a Case Series of Sod

Maris I , Howard C , Bogue C , Morrissey R , Gregory L C , O'Connell S M , Dattani M T , O'Riordan S M P

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

hrp0084p1-11 | Adrenal | ESPE2015

Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with a Reversible Cardiomyopathy Caused by a Novel CYP11B1 Mutation: Report of Three Cases

Alqahtani Mohammad Ahmad Awwad , Shati Ayed A , Zou Minjing , Alsuheel Ali M , Alhayani Abdullah A , Al-Qahtani Saleh M , Gilban Hessa M , Meyer Brain F , Shi Yufei

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

hrp0095p1-352 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Random Luteinizing Hormone Concentrations for Monitoring Central Precocious Treatment Efficacy

Zeitler Philip , M. Boldt-Houle Deborah , N. Atkinson Stuart

Background: A decrease in random LH concentration is observed after initiation of treatment for central precocious puberty (CPP), but the suitability of random LH concentrations for assessing efficacy is controversial. Although Neely et al. reported that random LH values frequently fail to demonstrate suppression to prepubertal levels,1 Lee et al. demonstrated that a cutoff of random LH <0.6 IU/l may be adequate for monitoring s...

hrp0095p2-273 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Isodicentric Y Chromosomes in Patients with Disorders of Sex Development

M Selveindran Nalini , SL Wong Jeanne , Hong YH Janet

Introduction: Isodicentric Y chromosome[idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45, X cell line.Methods: The aim of this study was to investigate the genotype and phenotype variability of patients with idic(Y). The clinical data from five patients was ext...

hrp0092fc3.6 | Multi-system Endocrine Disorders | ESPE2019

Severe Infections Contribute to Increased Risk of Early Death in Patients with Apeced

Borchers Joonatan , Mäkitie Outi , Laakso Saila

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease that is characterized by a combination of various endocrinopathies and other autoimmune disease components. Few longitudinal studies have shown a decreased life expectancy in APECED. However, knowledge on mortality and causes of death in patients with APECED is scarce.Objective: Our aim was to descr...