hrp0094s1.1 | Endocrine Hypertension - Aetiology Directed Management | ESPE2021

Pathogenesis of Familial and Sporadic Hyperaldosteronism: New Concepts Involving Ion Channels

Reincke Martin

Endocrine disorders are the most common causes of secondary hypertension. Early diagnosis and treatment is crucial for prevention of cardiovascular complications. Several rare but important entities like Cushing’s syndrome and pheochromocytoma/paraganglioma can cause endocrine hypertension, in contrast to primary aldosteronism, which is quite frequent. Definition, classification and prevalence: With a prevalence of 6% in unselected patients with hypertension, 5 to...

hrp0084p1-31 | Diabetes | ESPE2015

Type 1 Diabetes Onset: A Story of Innate and Adaptive Immune Cells?

Fitas Ana Laura , Martins Catarina , Alonso Anabela , Nunes Gloria , Pina Rosa , Amaral Daniela , Lenzen Sigurd , Lopes Lurdes , Borrego Luis Miguel , Limbert Catarina

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

hrp0089p3-p418 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Clinical and Endocrinological Manifestations of Partial Ectopic Posterior Pituitary: A New Imaging Entity

Ybarra Marina , Hafiz Rawan , Robinson Marie-Eve , Oettingen Julia von , Bui Helen , Saint-Martin Christine

Objective: To describe six cases of possible partial ectopic posterior pituitary gland (PEPP) seen on head magnetic resonance imaging (MRI) and their associated clinical and endocrinological manifestations.Methods: This is a single-center case series, from a tertiary public university health center in Montreal, Canada. Cases of children with possible PEPP were selected prospectively from 2005 to 2017, based on head MRI findings. Medical history, exam fi...

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...

hrp0092p1-209 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Urogenital Abnormalities in Children Conceived by Assisted Reproductive Technologies

Zyuzikova Zinaida , Volevodz Natalya , Shestakova Marina

Background: According to recent European and Russian monitoring hypospadias and cryptorchidism are the most frequent malformations of the urogenital system in children in the general population. Currently there is a lack of information about the impact of assisted reproductive technologies (ART) on the development of congenital malformations, including the urogenital system, although the presence of this abnormality could lead to male reproductive disorders.</...

hrp0086p2-p974 | Thyroid P2 | ESPE2016

Severe Growth Retardation and Hypothyroidism due to Hashimoto’s Thyroidits

Krstevska-Konstantinova Marina , Stamatova Ana , Gucev Zoran

Background: Hashimoto’s thyroiditis is a common autoimmune disease in pubertal and adolescent girls. In the past years the incidence of this autoimmune disease of the thyroid gland has increased.Objective and hypotheses: We present a 12.5 year old girl who had her first visit at our Pediatric Endocrinology Department at the age of 10 years due to short stature and clinical signs of hypothyroidism. Her height was – 3SD SDS and her BMI was 12.7. ...

hrp0082p3-d3-688 | Bone (2) | ESPE2014

Infantile Hypophosphatasia

Slaveska Nevenka , Krstevska-Konstantinova Marina , Trajkovski Zoran

Background: Hypophosphatasia (HP) is a rare inherited disorder characterised by defective bone and teeth mineralization because of deficient serum and bone alkaline phosphatase activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. Infantile HP (IHP) is one of the six recognized clinical forms according to age at presentation and clinical features. IHP is characterised by skeletal abnormalities due to demineralization and rachitic changes in the metaphyses, prem...

hrp0082p3-d3-699 | Bone (2) | ESPE2014

Infantile Hypophosphatasia

Slaveska Nevenka , Krstevska-Konstantinova Marina , Zoran Trajkovski

Background: Hypophosphatasia (HP) is a rare inherited disorder characterised by defective bone and teeth mineralization because of deficient serum and bone alkaline phosphatase activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. Infantile hypophosphatasia (IHP) is one of the six recognized clinical forms according to age at presentation, and clinical features. IHP is characterised by skeletal abnormalities due to demineralization and rachitic changes in the m...

hrp0082p3-d1-883 | Perinatal and Neonatal Endocrinology | ESPE2014

Iodine Status in Pregnant, Lactating Mothers and their Infants and Effects of Iodine Supplementation

Zelinskaya Natalya , Mamenko Marina , Belykh Natalya

Background: Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Iodine deficiency during pregnancy and infancy may impair growth and neurodevelopment of the off-spring and increase infant mortality.Objectives: To evaluate effects of iodine supplementation in pregnant, lactating women and their infants at the East of Ukraine.Methods: Target group...

hrp0084p2-298 | Diabetes | ESPE2015

Early Diagnostics of Wolfram Syndrome

Abdushelishvili Nino , Gordeladze Marina , Kheladze Nino

Background and aims: Wolfram syndrome is rare, progressive autosomal recessive disease with characteristic neurological and endocrine features. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report the family case of Wolfram syndrome with different phenotype variable.Case presentation: Patient 4 years and 4 months old girl with diabetes mellitus since the age of 2 years and 3 months. Born term, hea...