hrp0082p3-d2-721 | Diabetes (1) | ESPE2014

Glycemic Variability and Metabolic Control in Pediatric Patients with Type 1 Diabetes Mellitus

Martin-Frias Maria , Roldan M Belen , Alonso M Milagros , Oyakawa Yoko Patricia , Alonso Daniel , Barrio Raquel

Introduction: Recently, the impact of glycemic variability in the development of chronic complications of diabetes has been put in question. The gold-standard method to quantify glycemic variability is not well established.Objective: To analyze the relationship between HbA1c and glycemic variability as determined from self-monitoring blood glucose (SMBG) in type 1 diabetes (T1D) pediatric population.Patients/methods: Cross-sectiona...

hrp0086p1-p214 | Diabetes P1 | ESPE2016

Analysis of Short-Term Efficacy of MiniMed 640G with SmartGuard in Pediatric Patients with Type 1 Diabetes

Villafuerte Beatriz , Martin-Frias Maria , Yelmo Rosa , Roldan Belen , Angeles Alvarez M. , Barrio Raquel

Background: Fear of hypoglycemia is a major constraint on achieving a good metabolic control in T1D. Sensor augmented insulin pump therapy with threshold-suspended features (MiniMed 640G-SG) might alleviate burden of hypoglucemia and improve outcomes.Objective and hypotheses: Evaluate the effectiveness of this system to prevent day and night hypoglycemia and its impact on HbA1c in a pediatric population with T1D.Method: Descriptive...

hrp0084p3-746 | Diabetes | ESPE2015

Residual C-Peptide in Paediatric Patients with Type 1 Diabetes

Martin-Frias Maria , Oyakawa Yoko P , Alonso Milagros , Roldan Belen , Alvarez M Angeles , Barrio Raquel

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

hrp0082p1-d3-21 | Adrenals & HP Axis (1) | ESPE2014

How to Interpret Cortisol Responses to Acth in Patients with Non-Classic Congenital Adrenal Hyperplasia

Martin M Belen Roldan , Barcelli Yoko Oyakawa , Castellanos Raquel Barrio , Frias Maria Martin , Martin Daniel Alonso , Blanco Milagros Alonso

Background: Recent clinical guidelines recommend that all patients with non-classic congenital adrenal hyperplasia (NCCAH) on glucocorticoid therapy (GC) need to be informed about stress doses and suggest the use of GC in the subgroup of patients with low cortisol response during periods of stress even though they are not on GC.Objective and Hypotheses: To study the response of cortisol to ACTH 250 μg i.v. (Synacthen®, Novartis) in p...

hrp0086p2-p265 | Diabetes P2 | ESPE2016

Efficacy and Safety of Continuous Subcutaneous Insulin Infusion Treatment in Pre-schoolers. Long Term Experience of a Tertiary Care Centre in Spain

Colino Esmeralda , Villafuerte Beatriz , Martin Maria , Roldan Belen , Alvarez Angeles , Yelmo Rosa , Barrio Raquel

Background: There is limited knowledge in children younger than 6 years of age about the safety and efficacy of CSII treatment during long periods of time.Objective and hypotheses: Evaluate the efficacy and safety of CSII treatment in pre-schoolers with T1D, assess if ISPAD/ADA criteria for good metabolic control are achieved and define general and specific characteristics of the treatment in this range of age.Method: Charts of pat...

hrp0082p3-d1-699 | Diabetes | ESPE2014

Efficacy and Safety of CSII Treatment in Paediatric Age: Long Term Experience of a Tertiary Care Centre in Spain

Roldan Belen , Colino Esmeralda , Martin-Frias Maria , Alvarez Angeles , Yelmo Rosa , Barrio Raquel

Aims: The aims of the study are to evaluate the efficacy and safety of CSII treatment in paediatric patients, to determine if ISPAD criteria for good metabolic control are achieved and to define the general and specific characteristics depending on age and pubertal stage.Methods: Charts of all the patients who started CSII in the last 10 years were reviewed. The cohort consisted of 90 patients (age 10.1±4.4 years, 58% males). Age at start, DM durati...

hrp0084p3-731 | Diabetes | ESPE2015

Influence of Pancreatic Autoinmunity in the Onset and Progression of Diabetes in Paediatric Population

Oyakawa Yoko , Martin-Frias Maria , Yelmo Rosa , Alonso Milagros , Roldan Belen , Barrio Raquel

Background: Anti-islet autoantibodies are predictive and diagnostic markers for type 1 diabetes (T1D). The most frequently determined pancreatic autoantibodies in T1D are anti-glutamic acid decarboxilase (GAD), anti-tyrosine phosphatase (IA-2) and anti-insulin (AAI).Objective and hypotheses: To study whether the pancreatic autoimmunity profile influences the initial presentation of diabetes, its metabolic behaviour and the presence of other autoimmune di...

hrp0084p3-1021 | Growth | ESPE2015

Response to rhGH Treatment in Patients with Transient or Permanent GH Deficiency

Villafuerte Beatriz , Barrio Raquel , Martin-Frias Maria , Alonso Milagros , Oyakawa Yoko , Roldan Belen

Background: GH (rhGH) treatment improves adult height in GH deficient (GHD) patients. However, there are differences in short and long term responses to treatment between children with permanent deficit (PDGH) and those who present a transient deficit (TDGH) when reassessed at final height (FH).Objective and hypotheses: To evaluate the response to rhGH treatment in patients with PDGH or TDGH one year after initiating treatment and at FH when treatment wa...

hrp0097p1-307 | Growth and Syndromes | ESPE2023

A unique combination of Klinefelter syndrome and Three M Syndrome in a boy with short stature

Lee Mi-Seon , Lee Rosie , Lee Sang-Eun , Kwak Na-eun , Kwon Soon-Hak , Moon Jung-Eun

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

hrp0094p1-50 | Sex Endocrinology and Gonads A | ESPE2021

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

McGlacken-Byrne Sinead M , Torres Ignacio Del Valle , Stabej Polona Le Quesne , Belutti Laura , Ocaka Louise , Ishida Miho , Suntharalingham Jenifer P , Genomics UCL , Discovery GOSgene , Resource Human Developmental Biology , Dattani Mehul T , Kelberman Dan , Lagos Carlos F , Livera Gabriel , Conway Gerard S , Achermann John C ,

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...