hrp0084p2-175 | Adrenals | ESPE2015

Abnormal Circadian Blood Pressure Profile in Patients with Congenital Adrenal Hyperplasia without Overt Hypertension

Janus Dominika , Wojcik Malgorzata , Tyrawa Katarzyna , Starzyk Jerzy

Background: An abnormal blood pressure (BP) circadian rhythm, and in particular a non- dipping phenomenon is associated with increased cardiovascular and cerebrovascular health risks. In patients on steroid replacement therapy non physiological substitution may affect the BP profile.Objective and hypotheses: i) to evaluate the circadian BP profiles of patients with congenital adrenal hyperplasia (CAH) on steroid replacement therapy, ii) to compare BP pro...

hrp0089p3-p243 | Growth & Syndromes P3 | ESPE2018

Increased Serum Activity of Liver Aminotransferases in Young Patients with Turner Syndrome

Wojcik Malgorzata , Ruszala Anna , Janus Dominika , Sztefko Krystyna , Starzyk Jerzy B.

Background: Liver tests abnormalities are common in adult patients with Turner Syndrome (TS). The data regarding liver tests in children and adolescents with TS remain lacking.Design and patients: A cross-sectional review of liver function of 100 girls with TS (age range 4–16, the mean BMI SDS 0.63 [−1,86 −6,78]); 56 receiving rhGH therapy (9 obese, 47 normal weight), and 44 receiving rhGH therapy and estrogen or estrogen/progesterone ho...

hrp0086p1-p801 | Syndromes: Mechanisms and Management P1 | ESPE2016

Prepubertal Ultra-low-dose Estrogen Therapy is Associated with Better Lipid Profile than Conventional Estrogen Replacement for Pubertal Induction in Adolescent Girls with Turner Syndrome – Preliminary results

Wojcik Malgorzata , Ruszala Anna , Zygmunt-Gorska Agata , Janus Dominika , Wojtys Joanna , Starzyk Jerzy B.

Background: Estrogen replacement is a treatment of choice for pubertal induction in adolescent girls with ovarian failure due to Turner syndrome (TS). Recently published data show, that prepubertal low dose estrogen replacement is more physiologic, and can optimize response to growth hormone treatment, pubertal timing, and improve cognition. The metabolic effects of such treatment regimen have not been fully investigated to date.Objective and hypotheses:...

hrp0082p2-d2-382 | Fat Metabolism & Obesity (1) | ESPE2014

Is 24-h Blood Pressure Monitoring Necessary in Obese Children and Adolescents?

Wojcik Malgorzata , Malek Jadwiga , Janus Dominika , Kalicka-Kasperczyk Anna , Tyrawa Katarzyna , Starzyk Jerzy B

Background: Arterial hypertension (AH) is one of the most common and the earliest complications of childhood obesity. It is diagnosed on the basis of at least three results of the standard setting measurements of systolic (SBP) and diastolic (DBP) blood pressure. Nevertheless, some data suggest, that this diagnostic standard may be not sufficient for obese children, because some BP abnormalities, unique for these patients, (decrease of night dip, elevated SBP/DBP load) cannot ...

hrp0084p3-846 | Fat | ESPE2015

Hypertriglicerydaemia in a Boy with Bardet-Biedl Syndrome – Case Report

Wojcik Malgorzata , Rogulska Katarzyna , Piotrowski Dawid , Zygmunt-Gorska Agata , Janus Dominika , Starzyk Jerzy B

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal anomalies, mental retardation and hypogonadism as well as minor features, which include diabetes mellitus, cardiac dysfunction and behavioural abnormalities. Hypertriglyceridaemia in BBS patients has not been reported to date.Objective and hypotheses: Presentation of the diagnosis and treatment of hypertriglice...

hrp0097p1-405 | Adrenals and HPA Axis | ESPE2023

Multicenter study on clinical, biochemical and ultrasonographic characteristics, therapeutic management and outcome of TART in males with congenital adrenal hyperplasia.

Corica Domenico , Baronio Federico , Janus Dominika , Russo Gianni , Ortolano Rita , Starzyk Jerzy , Rita Stancampiano Marianna , Salerno Mariacarolina , Felicia Faienza Maria , Grandone Anna , Curatola Selenia , Capalbo Donatella , Wasniewska Malgorzata

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

hrp0097p2-191 | Adrenals and HPA Axis | ESPE2023

Should we routinely assess hypothalamo-pituitary-adrenal axis in pediatric patients with Prader-Willi Syndrome?

Anna Wedrychowicz , Katarzyna Dolezal-Oltarzewska , Agata Zygmunt-Gorska , Anna Kalicka-Kasperczyk , Malgorzata Wojcik , Dominika Janus , Adrianna Kot , Agnieszka Lecka-Ambroziak , Elzbieta Petriczko , Joanna Wielopolska , Jerzy B Starzyk

Background: It was reported recently that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi Syndrome (PWS), presented in up to 60% of them, could be a potential cause of sudden death. Moreover it has been suggested that CAI could be aggravated by rhGH recombinant human growth hormone (rhGH) treatment.Objective: To prevent both over- and undertreatment with hydrocortisone, we assessed the p...

hrp0097p1-572 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Prospective Surveillance Of Gonadectomy In DSD – An I-DSD Care Quality Improvement Project

K Lucas-Herald Angela , Bryce Jillian , H Davies Justin , Shnorhavorian Margarett , Globa Evgenia , Grinspon Romina , Guerra-Junior Gil , Janus Dominika , Faisal Ahmed S , O'Connell Michele , Gonadectomy Surveillance Consortium I-DSD

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...