hrp0095rfc9.5 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pubertal milestones in Prader-Willi syndrome: Is there a role of genetic subtypes and MKRN3 status?

Kodytková Aneta , Dušátková Petra , Anne Amaratunga Shenali , Koloušková Stanislava , Obermannová Barbora , Pomahačová Renata , Průhová Štěpánka , Šnajderová Marta , Šumník Zdeněk , Zapletalová Jiřina , Lebl Jan

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...

hrp0084fc1.6 | Adrenal | ESPE2015

An Update on Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-free Foetal DNA in Maternal Plasma

New Maria , Tong Yu , Jiang Peiyong , Pina Christian , Chan K C Allen , Khattab Ahmed , Liao Gary J W , Yau Mabel , Kim Se-Min , Chiu Rossa W K , Sun Li , Zaidi Mone , Lo Y M Dennis

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

hrp0097p2-11 | Growth and Syndromes | ESPE2023

GH-IGF-1 axis in PTPN11 and non-PTPN11 Noonan syndrome: Effects on growth and response to GH treatment

Jírová Barbora , Kodytková Aneta , Dušátková Petra , Koloušková Stanislava , Obermannová Barbora , Průhová Štěpánka , Šnajderová Marta , Šumník Zdeněk , Lebl Jan

Introduction: The mechanisms underlying short stature in Noonan Syndrome (NS) are poorly understood and may include inadequate GH secretion or action, decreased IGF-1 production, growth plate dysfunction, or other factors. In this retrospective study, we aimed to evaluate the function of the GH-IGF-1 axis in NS.Method: We took all patients with genetically proven Noonan syndrome among 1001 children and adolescents curren...

hrp0095fc11.6 | Late Breaking | ESPE2022

The follicle-stimulating hormone receptor is expressed in human pancreatic islet beta-cells and its activation increases glucose stimulated insulin secretion

Aydin Banu K. , Chowdhury Azazul , Incedal Ceren , Wen Quan , Cerenius Sara Y. , Stenlid Rasmus , Forslund Anders , Idevall Olof , Bergsten Peter

Background: Follicle-stimulating hormone (FSH) plays a key role in reproduction. The G-protein coupled FSH receptor (FSHR), is expressed primarily in gonads, and specifically binds FSH. FSHR is also expressed in vascular endothelium, osteoclasts, adipose tissue, monocytes and rodent pancreatic islets. Elevated FSH levels are associated with development of obesity, insulin resistance, osteoporosis, and cardiovascular disease. In a recent study, we showed that h...

hrp0095rfc9.1 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark - a national observational study

Kjersgaard Jakobsen Louise , Beck Jensen Rikke , Holtum Birkebæk Niels , Hansen Dorte , Rønholt Christensen Ann-Margrethe , Thybo Christesen Henrik

Background: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by genetic or prenatal factors.Methods: For the period 1996–2020, patients with cCPHD were identified from the Danish National Patient Registry and the registries at the four Danish hospitals approved for the management of cCPHD. Retrospective hospital file reviews were performed to validate the diagn...

hrp0095rfc11.1 | Late Breaking | ESPE2022

Six-months of treatment with exenatide improves glycemic control, but does not affect endogenous intact GLP-1 concentrations in adolescents with obesity

Stenlid Rasmus , Y. Cerenius Sara , K. Aydin Banu , S. Gjessing Erik , Manell Hannes , Weghuber Daniel , Forslund Anders , Bergsten Peter

Introduction: When used to treat obesity, glucagon-like peptide 1 (GLP-1) receptor agonists (GLP-1RA) improve both BMI and metabolic health. Liraglutide is approved by both the EMA and FDA for the treatment of pediatric obesity, from 12 years and older. However, 26 weeks after discontinuation of liraglutide, the weight lost during treatment is regained. Prolonged exogenous stimulation of hormone-specific receptors may influence endogenous hormonal regulation. ...

hrp0095p1-113 | Growth and Syndromes | ESPE2022

Development and testing of a novel ‘GrowthMonitor’ Smartphone App for growth monitoring and the detection of growth disorders

Thaventhiran Thilipan , Orr Joanna , K. Morris Joan , Harding Vincent , Hsu Ann , Dunkel Leo , Chapple Paul , L. Storr Helen

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at h...

hrp0095p1-332 | Growth and Syndromes | ESPE2022

Growth Hormone Therapy Experience in a Patient with Hypotonia Cystinuria Syndrome

Sarıkaya Emre , Berber Uğur , Gök Ebru , Kara Leyla , Gül Şiraz Ülkü , Hatipoğlu Nihal

Background: Hypotonia-Cystinuria Syndrome (HCS) is a rare autosomal recessive disease characterized by generalized hypotonia, nephrolithiasis, short stature, minor facial dysmorphism, hyperphagia, and rapid weight gain in late childhood. Microdeletion can be detected in part of the SLC3A1 and PREPL genes in these cases. Growth hormone deficiency is rarely seen in these patients and adequate growth can be achieved with growth hormone therapy.<p class="abste...

hrp0095p1-367 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Evaluation of The Relationship Between the Immune and Endocrine System in Children Diagnosed with Polycystic Ovary Syndrome

Uygur Balık Ahmet , Keskin Mehmet , Karaoglan Murat , Keskin Ozlem , Yıldırım Ahmet , Albayrak Serpil

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

hrp0095lb19 | Late Breaking | ESPE2022

Early adrenal activation in boys with Cystic Fibrosis may explain impaired final height

Tamer Gizem , GM Arets Hubertus , K van der Ent Cornelis , M van Santen Hanneke , J van der Kamp Hetty

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...