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...

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...

hrp0097p2-197 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Precocious thelarche and menarche in 5 years old girl – McCune - Albright syndrome – our experience.

Vitariusova Eva , Kostalova Ludmila , Pribilincova Zuzana , Niznanska Zuzana , Wallenfelsova Eva , Podracka Ludmila

Introduction: McCune - Albright syndrome is rare genetic disorder characterized by periphereal precocious puberty, fibrous bone dysplasia and cafe au lait skin spots.Case: Almost 5 years old girl was sent to Endocrinological department due to precocious thelarche and menarche. At the time of first examination, patient had breast M 3 and large cafe au lait macule on the right tight, no pubic and axilar hair was present, n...

hrp0095p1-311 | Growth and Syndromes | ESPE2022

Variability of the Noonan syndrome phenotypic spectrum in four patients carrying novel LZTR1 gene variants

Meneghin Alice , Mozzato Chiara , Trevisson Eva , Guazzarotti Laura

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

hrp0092fc14.6 | GH and IGF6 | ESPE2019

Effects of 8 Years of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome

Donze Stephany , Damen Layla , Mahabier Eva , Hokken-Koelega Anita

Context: Children with Prader-Willi syndrome (PWS) generally have mild to moderate cognitive impairment with an IQ between 60 and 70. Growth hormone (GH) treatment is a registered treatment for children with PWS and has been associated with cognitive benefits, attributed to the effects of GH and insulin-like growth factor on brain growth and development. Short-term data suggest positive effects of GH treatment on cognitive functioning in children with PWS. The...

hrp0089p2-p064 | Diabetes &amp; Insulin P2 | ESPE2018

Early Diagnosis of Diabetes Type 2 in Children with Progeria Syndromes

Bald Martin , Timmermann Kirsten , Wadien Tanja , Krahling Eva , Holder Martin

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

hrp0089p1-p167 | Growth &amp; Syndromes P1 | ESPE2018

Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children with Prader-Willi Syndrome

Donze Stephany , Damen Layla , Mahabier Eva , Hokken-Koelega Anita

Context: Infants and toddlers with Prader-Willi Syndrome (PWS) have a mental and motor developmental delay. Short-term data suggest a positive effect of growth hormone (GH) on mental and motor development in infants and children with PWS. There are, however, no longer-term results about the effects of GH treatment on mental and motor development.Objective: To investigate the longer-term effects of GH on psychomotor development in infants and toddlers wit...

hrp0086fc15.6 | Late Breaking | ESPE2016

Type 1 Diabetes Associated Serum Insulin-Like Growth Factor I (IGF-I) Reference Values in Children and Adolescents

Oberg Daniel , Salemyr Jenny , Ortqvist Eva , Juul Anders , Bang Peter

Background: The disturbance of the GH-IGF-axis in type 1 diabetes (T1DM) with low circulating IGF-I, GH hypersecretion, and hyperinsulinemia, which may be associated with high tissue IGF-I, have implications on long-term vascular complications.Objective and hypotheses: To establish disease, sex and age related serum IGF-I reference values for children with T1DM and test the hypothesis that IGF-I SDS is lower in T1DM than in healthy controls and negativel...

hrp0084p2-203 | Adrenals | ESPE2015

Autoimmune Encephalitis – A Newly Recognised Clinical Manifestation of Autoimmune Polyendocrine Syndrome Type 1?

Ferenczova Juliana , Vargova Veronika , Krysl David , Banoova Erika , Sadova Eva

Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.Case presentation: Patient was diagnosed with a mucocutaneous candidiasis...