hrp0082p2-d3-611 | Turner Syndrome | ESPE2014

Epidemiology of Turner Syndrome in Iceland 1968–2012

Sigmarsdottir Arndis Audur , Johannsson Johann Heidar , Sigurjonsdottir Helga Agusta , Thorsson Arni V

Introduction: Turner syndrome (TS) is a common genetic disorders with an estimated range of occuring in 25–210 per 100 000 liveborn females. In Denmark the prevalence of TS has been found to be 40 per 100 000 liveborn females. Our aim was to study the epidemiology of TS in Iceland for the period of 1968–2012.Methods: Primary source of data were hospital records and records from all pediatric endocrinologists in Iceland. To validate the data the...

hrp0084p3-1235 | Turner | ESPE2015

Turner Syndrome in Iceland 1968–2012: Congenital Anomalies and Clinical Outcomes

Sigmarsdottir Arndis A , Johannsson Johann H , Sigurjonsdottir Helga A , Thorsson Arni V

Background: In 1968 a cytogenetics laboratory was established at the University Hospital, Reykjavik and has since then served as the only chromosomal laboratory for all hospitals and physicians in Iceland. Our current aim was to study the physical features, congenital anomalies and various clinical outcomes in Icelandic females, diagnosed with Turner syndrome (TS) for the period of 1968–2012.Method: Data was obtained from hospital records, from all ...

hrp0086p1-p594 | Growth P1 | ESPE2016

Somapacitan, a Once-Weekly Reversible Albumin-Binding Growth Hormone (GH) Derivative, Is Well Tolerated and Convenient in Adults with GH Deficiency (AGHD): Results from a 26-Week Randomised, Controlled Phase 3 Trial

Johannsson Gudmunder , Feldt-Rasmussen Ulla , Holme Haakonsson Ida , Biering Henrik , Rodien Patrice , Tahara Shigeyuki , Toogood Andrew , Hojby Michael

Background: Growth hormone (GH) replacement as daily s.c. injections for patients with adults with GH deficiency (AGHD) can be cumbersome. Somapacitan (Novo Nordisk), a once-weekly reversible albumin-binding GH derivative, has been shown in short-term trials to be well tolerated in healthy adults and in patients with AGHD.Objective and hypotheses: This trial was a multinational, multicentre, randomised (2:1), open-label, active-controlle...

hrp0086p1-p261 | Diabetes P1 | ESPE2016

Johansson-Blizzard Syndrome with Pan-hypopituitrism, Type 2 Diabetes and Pancreatic insufficiency: Effect of Treatment

Alyafie Fawzia , Soliman Ashraf

Background: Johanson-Blizzard syndrome (JBS) is a disease characterized by poor growth, variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, sensori-neural deafness, abnormal hair patterns or scalp defects, and oligodontia. Other features of JBS include pan-hypopituitarism, imperforate anus, and PI. Pancreatic endocrine insufficiency (PI).Case study: AM is a 10 years-old boy, born at term with aplasia of the alae nasi and cong...

hrp0094p1-135 | Growth Hormone and IGFs A | ESPE2021

Long-term safety of growth hormone in adults and adolescents with growth hormone deficiency: An overview of the full-cohort in KIMS

Johannsson Gudmundur , Touraine Philippe , Feldt-Rasmussen Ulla , Pico Antonio , Vila Greisa , Carlsson Martin , Beek Andre P van , Wajnrajch Michael P , Gomez Roy , Yuen Kevin CY ,

Objective: KIMS (Pfizer International Metabolic Survey) was a postmarketing surveillance study of growth hormone (GH) replacement in adults and adolescents with GH deficiency (GHD) that concluded in October 2012. This analysis aimed to evaluate the overall safety outcomes from the full cohort of GH-treated patients of KIMS.Methods: Data were collected on adults and adolescents with confirmed GHD and closed epiphyses trea...

hrp0082p2-d1-283 | Bone | ESPE2014

Hypophosphatemic Rickets in Norwegian Children: Genotypes, Phenotypes, and Complications

Rafaelsen Silje , Raeder Helge , Johansson Stefan , Bjerknes Robert

Background: Hereditary hypophosphatemic rickets (HR) is a group of rare diseases with disordered phosphate metabolism. The Norwegian cohort of HR patients has not previously been described.Objective and hypotheses: The aim of the study was to characterize the genotype, phenotype, and complications to treatment in a national cohort of Norwegian children HR.Method: For assessment of genotype, Sanger sequencing of PHEX, FGF23, DMP...

hrp0084s7.1 | Hypogonadotropic hypogonadism: diagnostic and therapeutic approach | ESPE2015

Genetics of Congenital Hypogonadotropic Hypogonadism

Tommiska Johanna

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete or absent puberty caused by the lack or deficient number of hypothalamic GnRH neurons, disturbed secretion or action of GnRH, or both. The association of CHH and a defective sense of smell (anosmia or hyposmia) found in approximately half of the CHH patients is termed Kallmann syndrome (KS). CHH is clinically and genetically heterogeneous, and >25 different causal genes have been ...

hrp0094fc7.1 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

The Use Of e-REC For Capturing The Occurrence Of COVID-19 Infections In People With Rare Endocrine Conditions

Bryce Jillian , Di Guisto Vicki , Ali Salma R. , Alexandraki Krystallenia , Badiu Corin , Baronio Federico , Biermasz Nienke R. , Brandi Maria Luisa , Castinetti Frederic , Ceccato Filippo , Chifu Irina-Oana , Cools Martine , Danne Thomas , Druce Maralyn , Esposito Daniela , Falhammar Henrik , Fugazzola Laura , Gan Hoong-Wei , Giordano Roberta , Isidori Andrea M. , Johannsson Gudmundur , Karavitaki Niki , Linglart Agnes , Luger Anton , Maffei Pietro , Marazuela Monica , Jaksic Vladka Pandzic , Paschou Stavroula A. , Persani Luca , Domingo Manuel Puig , Reisch Nicole , Schalin-Jantti Camilla , Akker van den Erica L.T. , Vassiliadi Dimitra , Young Jacques , Appelman-Dijkstra Natasha , Grozinsky-Glasberg Simona , Pereira Alberto M. , Ahmed S. Faisal ,

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

hrp0092p1-24 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Novel Homozygous LRP5 Mutations in Patients with Osteoporosis-Pseudoglioma Syndrome

Saffari Fatemeh , Heidari Abolfazl , Esmailzadehha Neda , Homaei Ali

Background: Osteoporosis pseudoglioma syndrome (OPPG) characterized by congenital or early onset blindness with severe juvenile onset osteoporosis. OPPG is a rare autosomal recessive disorder due to loss of function mutation in the low-density lipoprotein receptor like protein 5 (LRP5).Methods: Two patients (siblings) underwent clinical examination, including a complete ophthalmic evaluation. Diagnosis of OPPG was based ...

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...