hrp0094p1-176 | Growth Hormone and IGFs B | ESPE2021

Irisin in the growth hormone deficient children: before and on rhGH therapy.

Seifert Monika , Noczynska Anna , Wikiera Beata ,

Introduction: In recent years, one of the most frequently studied focuses is the pathophysiology of adipose and muscle tissue; however, in the literature there is no report about regulatory proteins (myokines/adipomyokines), which expression affects the body’s metabolism and communication between tissues especially in children population. Irisin (Ir) is one of the adipomyokines, which induces the conversion of white adipocytes into beige adipose tissue, a...

hrp0094p2-441 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Clinical case of premature ovarian failure in combination with blepharophimosis-ptosis-epicanthus inversus due to mutation in FOXL2 gene

Enikeeva Sofia , Kolodkina Anna , Tihonovich Julia

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

hrp0094p2-149 | Diabetes and insulin | ESPE2021

Assessment of the percentage of T lymphocytes and B lymphocytes with the expression of selected activation markers in patients with type 1 diabetes mellitus depending on the presence of antibodies against EBV antigens.

Rysz Izabela , Hymos Anna , Klatka Maria ,

Introduction: After contact with the antigen, lymphocytes require activation for proliferation and differentiation into effector cells. Activation of lymphocytes results in the expression of activation markers. The CD69 antigen appears first on the surface of lymphocytes. This occurs one hour after receiving the activation signal. The CD69 molecule acts as a cellular stimulating signal, causing further activation and proliferation of cells, stimulating the syn...

hrp0097rfc11.5 | GH and IGFs | ESPE2023

Influence of sirtuin 1 and fibroblast growth factor 21 levels on IGF-1 concentration in children with short stature of different etiology

Fedorczak Anna , Stawerska Renata , Lewiński Andrzej

Introduction: Short stature is one of the most common reasons for children presenting to an endocrinologist. In normal conditions, growth hormone (GH) stimulates the IGF-1 production in hepatocytes via the STAT5 signaling pathway. Approximately 40% of children diagnosed with idiopathic short stature (ISS), i.e. with normal GH secretion, have a reduced IGF-1 level for unknown reasons. Recently, it has been described that there are certain factors that reduce IG...

hrp0097p1-7 | Adrenals and HPA Axis | ESPE2023

The process of knowledge-making with a patient encounter – from education to negotiation of the way of treatment in patients with congenital adrenal hyperplasia (CAH).

M. Kucharska Anna , Radkowska-Walkowicz Magdalena

Introduction: CAH is a chronic inherited disease which needs the treatment for the whole life. This situation forms the necessity of a proper patient- doctor relations: not only compliance, but rather informed cooperation. The neonatal screening for CAH allowing the early diagnosis and treatment and availability of internet sources of professional knowledge is the new challenge in the way of education of patients. In Poland there is still observed the dominanc...

hrp0097p1-410 | Adrenals and HPA Axis | ESPE2023

Patient education for management of sick day episodes in adrenal insufficiency: A systematic review of structured education and online patient resources

Bradford Anna , Mason Avril , Choong Wong Sze

Background: Management of adrenal insufficiency(AI) during sick-day episodes require adjustment of oral glucocorticoid therapy or administration of intramuscular injection to prevent adrenal crisis. Education of families of a young person with AI on management during sick day episode is therefore critical.Aim: To critically appraise patient education of sick-day episode management of adrenal insufficiency by conducting</...

hrp0097p2-241 | Late Breaking | ESPE2023

Primary hyperparathyroidism in children

Benina Anastasia , Kolodkina Anna , Bezlepkina Olga

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

hrp0092p1-73 | GH and IGFs | ESPE2019

Influence of Birth Parameters on Growth Response and Metabolic Effects of Growth Hormone (GH) Therapy in GH-deficient Children and Adolescents

Witkowska-Sedek Ewelina , Ruminska Malgorzata , Kucharska Anna M. , Majcher Anna , Pyrzak Beata

Introduction: Growth depends on growth hormone (GH) secretion and on individual sensitivity to its action. The effects of birth parameters on growth and metabolic status are well documented in small-for-gestational-age children, but in children with GH deficiency those associations are not clear. Taking into account that GH-deficient children are not a homogenic group of patients, the importance of an individual approach to GH doses and the assessment of the e...

hrp0089p1-p129 | Fat, Metabolism and Obesity P1 | ESPE2018

Early Menarche is Associated with Insulin Resistance and Non-Alcoholic Fatty Liver Disease in Obese Adolescents

Di Sessa Anna , Grandone Anna , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: Menarche is a significant event in the reproductive life of a woman and represents the late event in puberty indicating that a sexually immature child has become reproductively capable. Even though the timing of puberty onset is approximately conserved in different populations, the puberty starts across a wide range of ages in normal girls. However, in the last decades we are observing that girls are experiencing earlier breast development and earlier menarche, als...

hrp0089p2-p371 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

No Difference in Cognitive Performance or Gender Role Behaviour in Men with and without Hypospadias

Strandqvist Anna , Ortqvist Lisa , Frisen Louise , Nordenskjold Agneta , Herlitz Agneta , Nordenstrom Anna

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...