hrp0098p2-254 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Implication for metabolic heath of using of adolescent PCOS criteria

Malczyk Żaneta , Nowak Ciołek Maria , Stachowiak Julia , Krok Katarzyna , Sokal Julia , Skrzyńska Karolina , Zachurzok Agnieszka

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women. The diagnosis of PCOS in adolescent patients can be difficult because characteristics of normal puberty often overlap with signs and symptoms of PCOS. Irregular menstrual cycles and ultrasound display of multiple follicles are common finding during puberty. In recent years new diagnostic criteria for PCOS in adolescent females were introduced. These new criteria i...

hrp0095fc9.3 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Therapeutic outcomes in gonadotropin-replaced males with congenital hypogonadotropic hypogonadism (CHH) with identified genetic variants

Rohayem Julia

Background: To delineate testicular responses to gonadotropin replacement in young males with genetically proven CHH.Patients and Methods: In n=72 young males with CHH and at least one variant detected within twenty-four investigated known CHH genes, gonadotropin replacement with hCG and rFSH s.c. was performed over a mean of 2±1 years. Bi-testicular volumes and serum Inhibin B served as baseline parameters, ...

hrp0092mte4 | Klinefelter Syndrome - when should Testosterone be Started | ESPE2019

Klinefelter Syndrome - When Should Testosterone be Started?

Rohayem Julia

Males with Klinefelter syndrome (KS) have impaired gonadal function due to sex chromosome aneuploidy (47,XXY), ultimately resulting in testicular atrophy and hypergonadotropic azoospermia, thus infertility. At what time serum testosterone (T) concentrations decline in affected individuals, thereby indicating lifelong replacement, is not predictable. An early testosterone treatment provides potential benefits with respect to body composition, neuro-muscular function and final h...

hrp0095p1-105 | GH and IGFs | ESPE2022

Early Growth Failure and Untreated Growth Hormone Deficiency in Radiotherapy-Treated Long-Term Survivors of Childhood Brain Tumor

Anttonen Julia , Ojaniemi Marja

Growth failure is common in radiotherapy-treated long-term survivors of pediatric brain tumors. The aim of this study was to assess the changes in growth patterns before and after brain tumor diagnosis, the final height, and the risk factors for compromised growth. The incidence and treatment practices of growth hormone deficiency were analyzed.Methods: A cohort of 73 long-term survivors of childhood brain tumor (median age 27.2 years) w...

hrp0084p3-906 | Fat | ESPE2015

Deficiency of 25-(OH) D-Vitamin in Adolescents with Obesity

Matveeva Mariia , Samoylova Julia

Objective: To evaluate the level of 25 (OH) D – vitamin in obese adolescents living in the South of Russia.Materials and method: We examined 20 obese adolescents with varying degrees of severity, aged 15.5±0.3 years, ten girls and boys. The comparison group consisted of ten healthy adolescents matched for age and sex. Obesity was calculated by BMI. Level of 25-(OH) D – vitamin was studied in the laboratory by ELISA (nmol/l). Furthermore, t...

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...

hrp0094p2-31 | Adrenals and HPA Axis | ESPE2021

Investigation of usage and acceptance of hydrocortisone granules in capsules for opening in children with adrenal insufficiency

Hilger Julia , Blankenstein Oliver , Neumann Uta ,

Context: Off-label and unlicensed use is widespread in medical therapy of children. Since 2007 there is an EU regulation, which includes the need for a pediatric investigation plan (PIP) in the drug approval process. In 2018, hydrocortisone granules in capsules for opening (Alkindi®) became the first medicine to be approved for the treatment of adrenal insufficiency in children from birth.Methods: An anonymised onli...

hrp0089p2-p398 | Thyroid P2 | ESPE2018

Diagnosis and Clinical Course of Amiodarone Induced Hyperthyroidism in Three Adolescent Patients

Gesing Julia , Hoppmann Julia , Gebauer Roman , Pfaffle Roland , Bertsche Astrid , Kiess Wieland

Amiodarone induced hyperthyroidism is a known side effect of amiodarone treatment. In the pediatric population long-term amiodarone treatment is rarely indicated because of its severe side effects including thyroid function impairment and therefore treatment is restricted to therapy resistant arrhythmias. In the literature scarce data is available on management and therapy of amiodarone induced thyroid dysfunction at a young age. We present three adolescent patients developin...

hrp0089p3-p024 | Adrenals and HPA Axis P3 | ESPE2018

The P30L Mutation in the CYP21A2 Gene in a Girl with Congenital Adrenal Hyperplasia with Hidden Salt Loosing and Central Precocious Puberty

Akulevich Natallia , Boiko Julia , Mirabelli Silvestro , DeLuca Filippo , Wasniewska Malgorzata

In CAH due to 21-OH deficiency, phenotype-genotype correlation is known. However, the same genetic events may cause different clinical forms of the disease. A case of CAH associated with the P30L in the CYP21A2 gene in presented. The Caucasian girl was born normally and growing healthy till the age of 3.y., when her mother noticed pubic hair growth; at the age of 4 she had acne and an increasing sweating. At 6 y. of age, she was brought to paediatric endocrinologist f...

hrp0086p2-p497 | Fat Metabolism and Obesity P2 | ESPE2016

Cardiometabolic Effect of Sugar-Sweetened Beverages Reduction in Obese Children

Galhardo Julia , Diamantino Catarina , Alonso Anabela , Lopes Lurdes

Background: The excessive consumption of sucrose, primarily used in sweetened beverages, has been considered an important inducer of cardiometabolic diseases. Besides the association between metabolic syndrome and fructose found in animal models, literature is lacking prospective studies in humans, especially in paediatric ages.Objective and hypotheses: We assessed the effect of sugar-sweetened beverages reduction on markers of metabolic syndrome in obes...