hrp0094p2-301 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The evaluation of growth velocity, height, weight, elementary laboratory tests and hormonal function in the patient with Floating-Harbor syndrome treated with growth hormone for 20 months –case report, preliminary report.

Okońska Maja , Myśliwiec Małgorzata ,

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with...

hrp0095lb22 | Late Breaking | ESPE2022

Maternal and Cord Blood Metabolites Associations with Childhood Glucose Outcomes in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.

E. Bianco Monica , Hai My , Scholtens Denise , Josefson Jami , Lowe William , Jr

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

hrp0092p3-163 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Endocrinological Evaluation of Male Patient with Floating-Harbor Syndrome –case Report

Okońska Maja , Myśliwiec Małgorzata , Chrzańowska Krystyńa

Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- is followed up in our Pediatric Endocrinology Outpatient Clinic ...

hrp0092p3-187 | Multisystem Endocrine Disorders | ESPE2019

Difficulties in Hypothyroidism and Diabetes Treatment in Patient with GATA6 Gene Mutation –case Report

Okońska Maja , Brandt Agnieszka , Myśliwiec Małgorzata

Introduction: Patients with GATA6 gene mutations have broad spectrum of clinical presentation, but most of them have pancreatic agenesis or hypotrophy, exocrine pancreatic insufficiency, insulin-treated neonatal diabetes and cardiac malformations. Some of them have significant neurocognitive deficits, hypopituitarism, hypothyroidism, gut abnormalities, biliary atresia, gallbladder agenesis.Case Report: The 5.5 year old f...

hrp0089p3-p145 | Fat, Metabolism and Obesity P3 | ESPE2018

Thyroid Function, Lipid Profile and Carbohydrate Metabolism Parameters in Patients with Alstrom Syndrome

Okońska Maja , Brandt Agnieszka , Myśliwiec Małgorzata

Introduction: Alstrom syndrome is an autosomal recessive genetic disorder with mutation in the ALMS 2p12-13 gene and its characteristic features are: pigmented retinopathy, deafness, growth deficiency, obesity, metabolic syndrome, diabetes, thyroid dysfunction, nephropathy and cardiomyopathy.Aim of the study: Evaluation of anthropometric parameters, thyroid function, carbohydrate metabolism and lipid profile in five patients with diagnosed Alstrom syndro...

hrp0089p1-p059 | Diabetes & Insulin P1 | ESPE2018

Impact of Diabetes During Pregnancy in Women Affected with GCK-MODY on Neonatal Health Outcome

Brandt Agnieszka , Wołoszyn-Durkiewicz Anna , Buraczewska Marta , Kopacz-Petranyuk Katarzyna , Myśliwiec Małgorzata

Introduction: Gestational diabetes is one of the most common medical disorders and may cause numerous maternal and fetal complications. It constitutes one of the most frequent pregnancy health problems and may cause wide range of complications such as: preterm births, congenital defects, sacral agenesis, hypertrophic cardiomyopathy, metabolic changes and macrosomia in neonates. Therefore, early detection and implementation of guideline-based screening tests, are crucial. One o...

hrp0086p2-p281 | Diabetes P2 | ESPE2016

Child with Mutation in GATA 6 Gene – Case Report

Brandt Agnieszka , Szmigiero-Kawko Małgorzata , Młynarski Wojciech , Wierzba Jolanta , Myśliwiec Małgorzata

Background: The GATA family of zinc finger transcription factors including GATA4 and GATA6 are known to play an important role in the development of the pancreas.Aim: The aim of this case-report study is to present a patient with GATA6 mutation treated in Clinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk.Case report: Child was born prematurely in 36th week of pregnancy with birth weight of 1520 g, wit...