hrp0089p3-p023 | Adrenals and HPA Axis P3 | ESPE2018

Secondary Hyperaldosteronism in the Course of Cystic Fibrosis

Erazmus Michał , Kucharska Anna

The electrolyte disorders are commonly considered as symptoms of the endocrine diseases concerning the secretion of aldosterone or antidiuretic hormone (ADH). This study is the case report of the 6-month-old girl admitted to the hospital because of the exacerbation of the chronic cough. Failure to thrive and malnutrition was also significant despite the patient’s good appetite reported by parents. She was referred to the department of the paediatric endocrinology due to m...

hrp0089p1-p213 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Insights in Promoter Transactivation of CBX2 Expression

Hart Dirk , Biason-Lauber Anna

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD in humans. Human...

hrp0084wg3.5 | DSD | ESPE2015

EU-Study: DSD-LIFE

Kohler Birgit , Arlt Wiebke , Bouvattier Claire , de la Perriere Aude Brac , Gaye Claire-Lise , Claahsen-van der Grinten Hedi , Cohen-Kettenis Peggy , Nordenstrom Anna , Pienkowski Catherine , Richter-Unruh Annette , Slowikowska-Hilczer Jolanta , Paris Francoise , Szarras-Capnik Maria , Reisch Nicole , Thyen Ute , Wiesemann Claudia

DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online d...

hrp0097p1-300 | GH and IGFs | ESPE2023

Assessment of the rhGH treatment compliance in children with growth hormone deficiency.

Scheuring Dorian , Walczak Mieczysław , Nowak Katarzyna , Dragan Wojciech , Starzyk Jerzy , Wędrychowicz Anna , Kapusta Alicja , Bossowski Artur , Sawicka Beata , Gawlik Aneta , Błaszczyk Ewa , Gieburowska Joanna , Beń-Skowronek Iwona , Trwoga Aleksandra , Sokół Martyna , Kołtowska-Häggström Maria , Kolasa-Kicińska Marzena , Łupińska Anna , Stawerska Renata , Lewiński Andrzej , Dudek Adam , Mazur Artur , Zachurzok Agnieszka , Mierzwa Magdalena , Wikiera Beata , Pyrżak Beata , Witkowska-Sędek Ewelina , Witkowska-Krawczak Ewa , Szewczak-Matan Bogumiła , Kędzia Andrzej , Moszczyńska Elżbieta , Kot Karolina , Birkholz-Walerzak Dorota , Myśliwiec Małgorzata , Petriczko Elżbieta

Aim: To identify factors affecting compliance to treatment with recombinant growth hormone (rhGH) in children with growth hormone deficiency (GHD).Study population and Methods: The following data were collected during standard visits in 8 endocrine clinics in Poland: medical history, auxological measurements, laboratory tests and the numbers of empty and full rhGH ampoules dispensed and returned by the patients. The obse...

hrp0095p1-151 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The effect of a GnRH analogue injection on the circulating levels of kisspeptin-1 in girls with suspected central precocious puberty

Rodanaki Maria , Rask Eva , Lodefalk Maria

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

hrp0092p2-201 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Papillary Thyroid Cancer in a 17-Years Old Girl with a Late-Diagnosed Turner Syndrome

Pankratova Maria , Brovin Dmitriy , Kareva Maria

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

hrp0089rfc5.3 | Thyroid | ESPE2018

Incidence and Treatment Outcome of Childhood Thyrotoxicosis

Rodanaki Maria , Lodefalk Maria , AEman Jan

Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Stat...

hrp0089p2-p311 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Incidence of Delayed Puberty in Adolescents. A Population-Based Study in a County in Central Sweden

Rodanaki Maria , Rask Eva , Lodefalk Maria

Introduction: Delayed puberty is defined as the absence of physical signs of puberty by the age of 14 years in boys and 13 years in girls. According to this definition, the prevalence of delayed puberty would be 2%, if the ages of pubertal onset were normally distributed in the population. However, the prevalence or incidence of delayed puberty has not been described before, as far as we know. Our aim was to study the incidence of delayed puberty in central Sweden.<p class...

hrp0094p1-86 | Pituitary A | ESPE2021

Adding a protease inhibitor to sampling tubes increases the acylated ghrelin and decreases the desacylated ghrelin levels in girls.

Rodanaki Maria , Rask Eva , Lodefalk Maria ,

Introduction: Ghrelin is a growth hormone-releasing acylated peptide stimulating the appetite, mainly produced in the stomach, and with an important role in pubertal development (1). Two ghrelin forms have been described, acylated (AG) and desacylated (DAG), but it is debated whether DAG is an active hormone or a degradation product of AG (2). Our aim was to evaluate the effects of adding the protease inhibitor 4-(2-aminoethyl) benzenesufonyl fluoride hydrochl...

hrp0097p1-247 | Fat, Metabolism and Obesity | ESPE2023

Th17 lymphocytes and peripheral complete blood count alterations in obese children

Artemniak-Wojtowicz Dorota , M. Kucharska Anna , Stelmaszczyk-Emmel Anna , Majcher Anna , Rumińska Małgorzata , Pyrżak Beata

Introduction: Obesity is considered one of the most common chronic diseases worldwide which is associated with chronic, low-grade, sterile inflammation. It leads to variable changes in metabolic and hormonal homeostasis. The aim of our study was to evaluate the impact of obesity associated chronic inflammation on peripheral complete blood count alterations.Material and Methods: 27 overweight/obese and 15 normal-weight ch...