hrp0098p1-38 | Diabetes and Insulin 2 | ESPE2024

A Retrospective Analysis of Cost of Admission Care in Children with First Presentation of T1D at University Hospital Limerick: Assessing the Feasibility of Ambulatory Care

Angela Dockery Lucy , McCaffrey Alison , Neylon Orla , O' Gorman Clodagh

Introduction: Currently in Ireland, the majority of children are admitted to hospital for education at initial diagnosis, regardless of diabetic ketoacidosis (DKA) status. ISPAD 2022 suggests that outpatient management for metabolically stable patients is a feasible management option if adequate resources are available. This study assesses the feasibility of such management in the University of Limerick (UHL) Paediatric Department by quantifying the care and e...

hrp0098p2-278 | Thyroid | ESPE2024

Predictive factors of transient congenital hypothyroidism: a retrospective study

Abad Lorna , de Leon Angela , Bon Maceda Ebner

Introduction: The prevalence of transient congenital hypothyroidism (TCH) in the Philippines has not been reported in a large-scale study. The diagnosis of TCH remains difficult due to its numerous possible etiologies. Identifying its predictive factors may aid in earlier diagnosis and decreased risk of overtreatment. This study aim ed to determine the predictive factors for TCH in children with congenital hypothyroidism (CH) detected by newborn screening (NBS...

hrp0094fc3.3 | Growth Disorders | ESPE2021

Genetic characterization of a cohort of children with short stature

Cavarzere Paolo , Turolla Lorenzo , Gaudino Rossella , Baffico Ave Maria , Maffei Massimo , Palma Laura , Pietrobelli Angelo , Coviello Domenico , Antoniazzi Franco ,

Background: Short stature is defined as a height more than two standard deviations below the mean for age and sex. Pathologic causes of short stature include growth hormone deficiency, hypothyroidism, celiac disease, inflammatory bowel disease or other chronic diseases, hormonal abnormalities, and genetic disorders, such as Turner syndrome. Moreover, among other variants of short stature, scholarship also described familial short stature, constitutional delay ...

hrp0094p2-330 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Short stature and efficacy of growth hormone treatment in a child with Nail-Patella Syndrome. A case report.

Pankratova Maria , Kareva Maria ,

Background: Nail-Patella syndrome (NPS) or hereditary onycho-osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia, patellar aplasia or hypoplasia, nephropathy and intra-ocular hypertension. The diagnosis confirmes by pathogenic variant in the LMX1B gene. There are reports of short stature in patients with this syndrome, however, data of the use of somatropin have not been presented. We describe the ...

hrp0094fc4.6 | Diabetes | ESPE2021

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort

McGlacken-Byrne Sinead M. , Mohammad Jasmina Kallefullah , Conlon Niamh , Gubaeva Diliara , Siersbaek Julie , Jorgen Schou Anders , Demibilek Huseyin , Dastamani Antonia , Houghton Jayne , Brusgaard Klaus , Melikyan Maria , Christesen Henrik , Flanagan Sarah E. , Murphy Nuala P. , Shah Pratik ,

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...

hrp0092p2-259 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Differences of Sex Development with Chromosomal Mosaicism: Histological Characterization and Immunohistochemistry Markers in Gonads During Childhood

Touzon Maria Sol , Galluzzo Mutti Maria laura , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Bailez Marcela , Costanzo Mariana , Guercio Gabriela , Rivarola Marco Aurelio , Belgorosky Alicia , Berensztein Esperanza

Sex chromosome disorders, including sex chromosome mosaicism, result in a large clinical spectrum. There is scarce information about the histological pattern of these gonads.Aim: to characterize the histology and cell markers pattern in gonads of patients with chromosomal mosaicism.Gonadal biopsies from thirteen patients with chromosomal mosaicism, including chromosome Y were studied. Six were rearing as male and s...

hrp0082p2-d2-299 | Bone (1) | ESPE2014

Mutation in the TBCE Gene Associated with Kenny-Caffey Type 1 Syndrome: a Rare Cause of Hypocalcemia

Meriem Bensalah , Fatma Zohra Bouzidi , Beauloye Veronique , Maria Garcia Hoyos , Zahra Kemali

Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with...

hrp0082p3-d2-675 | Bone (1) | ESPE2014

FGFR3 Gene: a Very Rare Mutation

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Quintero Victor , Trujillo-Tiebas Maria Jose , Canete Alfonso

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

hrp0092p2-4 | Adrenals and HPA Axis | ESPE2019

Bone Age Advancement in Prepubertal Children with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

hrp0092p2-14 | Adrenals and HPA Axis | ESPE2019

Differences Between Normal-bmi Girls with Premature Adrenarche and Overweight or Obese Girls with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: There seems to be an undoubting, but still puzzling, relationship between obesity and premature adrenarche (PA).Aim: To characterize a population of prepubertal girls with PA and to compare girls with a normal body mass index (BMI) with girls who are overweight or obese, in what regards gestational age and birth weight, age at the referral, clinical signs, anthropometry, bone age and hormone profile.<p ...