hrp0084p1-121 | Puberty | ESPE2015

A Missense Mutation in MKRN3 in a Danish Girl with Central Precocious Puberty and Her Brother with Early Puberty

Kansakoski Johanna , Raivio Taneli , Juul Anders , Tommiska Johanna

Background: Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 years in girls or 9 years in boys. Mutations in the maternally imprinted MKNR3 gene are the most common identified genetic cause of ICPP to date. Expression of MKRN3 in the arcuate nucleus is presumed to be inhibitory to GnRH secretion, but the exact mechanism remains un...

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...

hrp0095p1-84 | Fat, Metabolism and Obesity | ESPE2022

Osteocalcin in Infancy and Early Childhood Related to Covariates and Growth: A Longitudinal Birth Cohort Study

Berggren Sara , Dahlgren Jovanna , Andersson Ola , Bergman Stefan , Roswall Josefine

Context: Osteocalcin is a bone formation marker that has recently sparked interest for its endocrine involvement in glucose homeostasis and obesity. Nevertheless, its natural pattern during infancy and early childhood remains unknown.Objectives: We established reference values for total serum osteocalcin during specific timepoints from birth until five years of age, and presented these in the context of covariates.<p...

hrp0092rfc11.4 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Increased Adrenal and Testicular Androgen Concentrations Before Puberty and in Early Puberty Correlate to Adult Height Outcomes in Males with Silver-Russell Syndrome

Kvernebo-Sunnergren Kjersti , Ankarberg-Lindgren Carina , Dahlgren Jovanna

Background: In a previous study, we reported that adult height (AH) outcomes in growth hormone treated males with Silver-Russell syndrome (SRS) were negatively correlated with estradiol concentrations before start of puberty and in early puberty. Whether elevated estradiol concentrations originated from adrenal or testicular androgens is unclear. We aimed to describe androgen secretion patterns and investigate correlations between androgen concentrations and A...

hrp0089p1-p138 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Measurement of Estradiol and Testosterone in Umbilical Cord Blood by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS); Comparisons with Radioimmunoassay (RIA)

Allvin Kerstin , Dahlgren Jovanna , Andersson Mats X , Ankarberg-Lindgren Carina

Background: We have previously shown radioimmunoassay (RIA) and gas chromatography-tandem mass spectrometry (GC-MS/MS) to be comparable when analyzing estradiol and testosterone concentrations in prepubertal and pubertal children. However, the reliability for steroid hormone determination with RIA in umbilical cord blood is not known. In general, older studies using RIA show higher values of testosterone, than more recent ones using MS/MS.Patients and me...

hrp0086p1-p811 | Syndromes: Mechanisms and Management P1 | ESPE2016

Correlations between Prepubertal and Pubertal Estrogen Levels and Final Height Out-Come in Growth Hormone (GH) Treated Boys with Silver Russell syndrome

Kvernebo-Sunnergren Kjersti , Ankarberg-Lindgren Carina , AEkesson Karin , Dahlgren Jovanna

Background: Children with Silver Russell syndrome (SRS) suffer from severe intrauterine growth retardation. During infancy, short stature and delayed bone maturation are common features. A majority of these children initially have a good growth response to GH treatment. A catch-up period of skeletal maturation is often seen in early puberty. Later in puberty poor height acceleration may be seen.Objective and hypothesis: The objective of this study was to...

hrp0082p2-d1-372 | Fat Metabolism &amp; Obesity | ESPE2014

Longitudinal Development of Adiponectin in Early Childhood and the Influence of Breastfeeding and Essential Fatty Acid Status

Roswall Josefine , Kjellberg Emma , Strandvik Birgitta , Dahlgren Jovanna

Background: Adiponectin is an adipokine related to insulin sensitivity. In adults and older children adiponectin correlates inversely to BMI, insulin resistance, and cardiovascular risk. Less is known about these relationships in early childhood.Objective and hypotheses: To explore the longitudinal development of adiponectin and correlations to early feeding patterns and serum essential fatty acids.Method: 324 term infants were fol...

hrp0082p3-d1-884 | Perinatal and Neonatal Endocrinology | ESPE2014

Gender Differences in Sex Steroids and IGF1 at Birth and at 5 Years of Age

Allvin Kerstin , Karlsson Ann-Katrine , Ankarberg-Lindgren Carina , Dahlgren Jovanna

Background: Gender differences in sex steroids and IGF1 are well known from pubertal years into adulthood. Few studies report data from pre-school years.Objective and hypotheses: To study gender specific changes in sex steroids and IGF1 at birth and at 5 years of age and correlate these with auxological measurements. There are gender differences in IGF1 levels due to differences in sex steroids already at birth and during pre-school years.<p class="a...

hrp0084p3-917 | GH &amp; IGF | ESPE2015

Serum IGFI Concentration and Growth During Infancy Correlate to Polyunsaturated Fatty Acid Pattern

Dahlgren Jovanna , Kjellberg Emma , Strandvik Birgitta , Roswall Josefine

Background: IGF1 is important for fetal and infant growth and is influenced by nutrition. In young pigs, docosahexaenoic acid (DHA)-enriched food is associated with higher IGF1 levels but studies in human infants are lacking.Aims and objectives: To assess levels of polyunsaturated fatty acids (PUFA) relate to IGF1, birth size and growth during infancy.Methods: The setting was a population-based longitudinal cohort comprising 126 fu...

hrp0082p3-d1-959 | Sex Development | ESPE2014

Partial Androgen Insensitivity Syndrome in a Boy with Inactivating Androgen Receptor Mutation and Somatic Mosaicism

Tommiska Johanna , Keskinen Paivi , Raivio Taneli

Background: Mutations in the X-chromosomal androgen receptor (AR) gene, rendering the AR protein completely or partially inactive, cause complete or partial (PAIS) androgen insensitivity syndrome.Case report: The proband was born at term following uneventful pregnancy. His phallus length was 28 mm, he had palpable gonads in the lower portion of the inguinal canal, and he had a severe penoscrotal hypospadia. His karyotype was 46,XY, and molecular...