hrp0097p1-278 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Exploration of O-link protein biomarkers in children born after IUGR and early impaired developmental changes in heart function

Änghagen Olov , Rudholm Feldreich Tobias , Ärnlöv Johan , Bang Peter

We recently assessed systolic heart function in children from IUGR and normal control pregnancies and reported early developmental impairment of left ventricular longitudinal strain – a sensitive echocardiographic measure – during the first 3 months of life in IUGR children. In accordance with previous studies, this suggest that the increased cardiovascular risk later in life imposed by IUGR/SGA may, at least to some extent, be primary and not entirely secondary to...

hrp0098p1-173 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Incidence of delayed puberty: A nationwide register-based study.

E. Thomsen Charlotte , A. Holmboe Stine , K. Hueg Trine , V. Bräuner Elvira , Aksglaede Lise , Juul Anders

Background: The average age at pubertal onset is declining worldwide which has received a lot of scientific and public attention. This secular trend is accompanied by an increasing number of children diagnosed with precocious puberty in many countries worldwide. However, there is less focus on the secular changes in the upper and lower boundaries (+/- 2 standard deviation (SD)) for pubertal onset and very little is known about whether a secular trend in the in...

hrp0098p1-262 | Growth and Syndromes 4 | ESPE2024

A novel comprehensive bioinformatic strategy could significantly enhance the molecular genetic diagnosis in growth restriction phenotypes

Ishida Miho , Vestito Letizia , V. Maharaj Avinaash , Cipriani Valentina , Smedley Damian , L. Storr Helen

Introduction: Growth restriction (GR) comprises ~50% of new patient referrals to paediatric endocrine clinics with <20% receiving a clear diagnosis. Enhanced genetic testing and stratification leading to tailored clinical care is a fundamental need. Whole-genome sequencing (WGS) was offered to patients recruited to the 100,000 Genomes Project (100 KGP), leading to new diagnoses in ~25% of all rare disease participants. The analysis pipeline uses disease-spe...

hrp0092rfc2.2 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Does the Treatment with Recombinant Human Growth Hormone Improve Final Height in Patients Affected by X-Linked Hypophosphatemia?

André Julia , Zhukouskaya Volha V. , Rothenbuhler Anya , Lambert Anne-Sophie , Salles Jean-Pierre , Mignot Brigitte , Linglart Agnès

Background/Aim: 25 to 40% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, despite optimal conventional treatment (oral phosphate supplementation and active forms of vitamin D) with final height -2 SDS. Recombinant human growth hormone (rhGH) may be an adjuvant treatment of the growth retardation in these patients. Therefore, the main objective of this study was to describe how rhGH treatment improves final heigh...

hrp0092rfc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes

Malaquias Alexsandra C. , Noronha Renata M , Homma Thais K , Albuquerque Edoarda V A , Bertola Debora R , Jorge Alexander A L

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

hrp0092p2-153 | GH and IGFs | ESPE2019

Criteria for First-Year Growth Response to Growth Hormone Treatment in Prepubertal Children with Growth Hormone Deficiency: Do they Predict Final Height Outcome?

Straetemans Saartje , De Schepper Jean , Thomas Muriel , Tenoutasse Sylvie , Beauloye Véronique , Rooman Raoul , BESPEED the members of

Background/Aim: Several criteria for the first year growth response (FYGR) to growth hormone (GH) treatment have been proposed. We explored which FYGR criteria predict best the final height outcome after GH treatment in prepubertal children with GH deficiency (GHD).Methods: Height data of 129 GHD children (83 boys) treated with GH for at least 4 consecutive years with at least 1 year before pubertal onset, were retrieved...

hrp0092p2-164 | GH and IGFs | ESPE2019

Brain Magnetic Resonance Imaging in Children with Isolated Growth Hormone Deficiency and Idiopathic Short Stature Diagnoses

Yesquen Pamela , Clemente María , Campos Ariadna , Mogas Eduard , Vázquez Élida , Carrascosa Antonio , Yeste Diego

Introduction: Diagnosis of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is not straightforward. Nowadays growth hormone (GH) stimulation tests play a key role in the diagnosis but they are controversial due to the lack of normative data, poor reproducibility and poor disease concordance.The magnetic resonance imaging (MRI) is also a tool in the study of patients with short stature. Structural alterations of the hypo...

hrp0086p2-p584 | Perinatal Endocrinology P2 | ESPE2016

A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis

Sri Nagesh V. , Hattersley Andrew , Ellard Sian , De Franco Elisa , Flanagan Sarah , Naseem Altaf , Ahmed A. , Ahmed Tanveer , Venkateswarlu K.

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

hrp0086p2-p588 | Perinatal Endocrinology P2 | ESPE2016

Case Report on Hyperinsulinism/hyperammonaemia Syndrome: An Easily Treatable Cause of Postprandial Hypoglycaemia

Seneviratne Sumudu , Jayatunge Tharanga , Atapattu Navoda , De Silva K. S. H. , Wickramasinghe V. P. , De Silva Harendra

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

hrp0082p1-d3-88 | Diabetes (2) | ESPE2014

Improved Health-related Quality of Life with Insulin Therapy in Children with Cystic Fibrosis-related Diabetes: a Prospective Cohort Study

George Sherly , Hoey Hilary M C V , Costigan Colm , Murphy Nuala , Roche Edna F , O'Riordan Stephen M P

Background: Cystic fibrosis-related diabetes (CFRD) is a common complication in cystic fibrosis (CF). CFRD symptoms and treatment may impose additional burden and adversely affect their QoL.Objective and hypotheses: Assess HRQoL in CF children with normal glycaemia (CFN) and CFRD and evaluate the change in HRQoL over 1 year period along with clinical changes.Method: A prospective study was undertaken including children aged 10&#150...