hrp0095fc6.3 | Sex Development and Gonads | ESPE2022

Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD Registry-based study

Tadokoro-Cuccaro Rieko , Hughes Ieuan , Cools Martine , van de Vijver Koen , Bilharinho de Mendonça Berenice , Domenice Sorahia , L Batista Rafael , Thomazini Dallago Renata , Lisboa Gomes Nathalia , Costa Elaine F. , Maciel-Guerra Andréa T. , Guerra-Junior Gil , Gabriel Ribeiro de Andrade Juliana , Lucas-Herald Angela , Bryce Jillian , Hannema Sabine , Juul Anders , Globa Eugenia , MсElreavey Kenneth , Baronio Federico , Lopez Dacal Jimena , Darendeliler Feyza , Poyrazoglu Sukran , Kolesińska Zofia , Niedziela Marek , Claahsen – van der Grinten Hedi L. , van den Akke Erica L.T. , Herrmann Gloria , Atapattu Navoda , Jain Vandana , Sharma Rajni , Bettendorf Markus , Konrad Daniel , Martin Holterhus Paul , Fica Simona , Skae Mars , Russo Gianni , Rita Stancampiano Marianna , Gazdagh Gabriella , H Davies Justin , Mohamed Zainaba , Nimali Seneviratne Sumudu , Guran Tulay , GÜVEN Ayla , Wasniewska Malgorzata , Mladenov Vilhelm , Verkauskas Gilvydas , Markosyan Renata , Korbonits Marta , Faisal Ahmed S , Hiort Olaf , Wagner Isabel , Thankamony Ajay

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

hrp0092p3-81 | Diabetes and Insulin | ESPE2019

Cerebellum Malacia Lesions as a Result of Severe Diabetic Ketoacidosis in 12 Month Old Patient

Brandt-Varma Agnieszka , Szmigiero-Kawko Malgorzata , Mysliwiec Malgorzata

Introduction: Diabetic ketoacidosis (DKA) in children is related with high risk of severe complications in the central nervous system such as cerebral oedema, hematoma and thrombosis.The occurrence of cerebral oedema in children with DKA is around 1: 100 and is higher in young children with severe acidosis and in whom DKA is the first manifestation of the disease.Case Report: 12-month-old patient d...

hrp0086p2-p869 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Hormone Deficiency in a Patient with Ring Chromosome 18

Korpal-Szczyrska Maria , Mysliwiec Malgorzata

Background: Ring chromosome 18 [r (18)] syndrome belongs to a rare group of chromosomal abnormalities (only about 70 cases reported). The association of r(18) and growth hormone deficiency (GHD) is extremely rare (3 descriptions with different responds to GH treatment). Patients with r(18) syndrome are characterized by short stature, obesity, microcephaly, mental retardation, hypertelorism, epicanthic folds, micrognatia and small hands with short tapering fingers. Also atypica...

hrp0084p3-626 | Adrenals | ESPE2015

Exogenous Cushing’s Syndrome due to Misuse of Topical Corticosteroid Therapy

Korpal-Szczyrska Maria , Mysliwiec Malgorzata

Background: The development of Cushing’s syndrome from topical corticosteroids in children is rare. It is most often reported in infants after misuse of high potency steroid creams for diaper dermatitis. 0.1% mometasone is a mild-strength topical steroid and so far to our knowledge no Cushing’s syndrome in children after its usage was documented.Objective and hypotheses: The aim was to present a case of iatrogenic Cushing’s syndrome in a 4...

hrp0092p2-163 | GH and IGFs | ESPE2019

Growth Response in Short Preterm- Born Children Small for Gestational Age in First Year of Growth Hormone Treatment

Korpal-Szczyrska Maria , Szczyrski Jan , Mysliwiec Malgorzata

Background: Growth hormone (rGH) treatment is an approved growth promoting therapy in children born small for gestational age (SGA) without spontaneous catch-up. SGA infants may be born either full-term or premature. Prematurity is an additional risk factor for adult short stature. Premature children born SGA may potentially be affected by combination of the effects of prematurity and SGA status. There are only few reports on premature SGA children treated wit...

hrp0092p3-66 | Diabetes and Insulin | ESPE2019

Familial Hypercholesterolaemia as a Cause of Dyslipidemia in Patient with Type 1 Diabetes

Brandt-Varma Agnieszka , Hennig Matylda , Mysliwiec Malgorzata

Introduction: Diabetes type 1 (DM1) in children can result in lipid disorders due to insulin deficiency. Familial hypercholesterolaemia (FH) is a very common monogenic disorder with occurrence of 1:250 and it may lead to development of cardiovascular disease (CAD) in a very young age.Case report: Female patient with diabetes diagnosed at the age of 5, was referred to joint diabetes and lipid clinic due to high levels of ...

hrp0089p3-p384 | Thyroid P3 | ESPE2018

Neonatal Hypothyroidism following Transplacental Amiodarone Treatment for Supraventricular Tachyarrhythmia

Korpal-Szczyrska Maria , Mysliwiec Malgorzata , Szczyrski Jozef

Background: The proper function of fetal thyroid gland depends on a proper content of iodine in mother’s diet and its transplacental transportation. Fetal iodine overload may be responsible for fetal hypothyroidism. Amiodarone is an iodine-rich antiarrhythmic medication and it contains 37% iodine by weight. Fetal tachyarrhythmia is associated with significant perinatal morbidity and mortality. If left untreated can cause congestive heart failure and non-immune hydrops fet...

hrp0086p1-p256 | Diabetes P1 | ESPE2016

The Incidence of Type 1 Diabetes in the Pediatric Population in Pomeranian Region in Poland

Brandt Agnieszka , Derkowska Ilona , Mysliwiec Malgorzata

Background: It is observed from nearly 50 years that the incidence of diabetes worldwide is increasing. Also the incidence of type 1 diabetes, which is most common in paediatric population, rises across Europe.Objective and hypotheses: The aim of the study was to analyze the incidence of type 1 diabetes in Poland in Pomeranian province in the years 2005, 2010 and 2015. The hypothesis was an increased incidence of type 1 diabetes.Me...

hrp0084p1-77 | Fat | ESPE2015

Evaluation of Adiponectin Concentrations in Obese Children and Its Correlation with Lipid and Carbohydrate Parameters

Ruminska Malgorzata , Majcher Anna , Pyrzak Beata

Aims: The aims of the study was to evaluate the plasma adiponectin levels in obese children depending on children age, gender, stage of puberty and its relationship with lipid and carbohydrate metabolism parameters.Material and method: The study were involved 122 obese children (52 girls, 70 boys), aged 5.3–17.9 years (11.6±3 years), 52 children in prepubertal, and 65 in pubertal period. Obesity was defined using IOTF criteria. The control grou...