hrp0084wg5.2 | Paediatric and Adolescent Gynaecology | ESPE2015

Preservation of Fertility Pre-Therapy

Grynberg Michael

We are in an exciting and interesting time, when pediatricians and reproductive endocrinologists across the globe rise to the challenge of providing fertility services for people with a history of gonadotoxic diseases. Indeed, developments in numerous medical fields have improved long-term survival rates for many diseases that strike children and young adults. However, to survive is no longer enough. The emphasis is shifting, to enable people to live a life as normal as possib...

hrp0089p1-p006 | Adrenals and HPA Axis P1 | ESPE2018

Altered DNA Methylation in Peripheral T-cells from Patients with Congenital Adrenal Hyperplasia

Karlsson Leif , Barbaro Michela , Ewing Ewoud , Gomez-Cabrero David , Lajic Svetlana

Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.Objective and hypot...

hrp0089p3-p004 | Adrenals and HPA Axis P3 | ESPE2018

Basal Levels of 17-hydroxyprogesterone can Distinguish Isolated Precocious Pubarche from Non-Classical Congenital Adrenal Hyperplasia in Children: A Prospective Observational study

Grandone Anna , Festa Adalgisa , Mariani Michela , Luongo Caterina , Giudice Emanuele Miraglia del

Background: Basal levels of androgens, in particular 17-OHprogesterone (17OHP), are widely debated as predictors of non-classical congenital adrenal hyperplasia (NCCAH) among patients with precocious pubarche (PP). So many authors suggested the execution of ACTH stimulation test in all children with PP. The aim of our study was to identify clinical and biochemical predictors of NCCAH in children with PP.Methods: We conducted a prospective study of 92 pat...

hrp0086rfc2.5 | Bone & Mineral Metabolism | ESPE2016

Growth Patterns and Fractures in Boys with Duchenne Muscular Dystrophy: Insights from Over 800 Boys in the UK North Star Cohort

Joseph Shuko , Bushby Katherine , Guglieri Michela , Horrocks Iain , Ahmed S Faisal , Wong S C

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

hrp0086rfc12.4 | Neuroendocrinology | ESPE2016

Molecular Screening of MKRN3, DLK1 and KCNK9 Genes in Central Precocious Puberty

Grandone Anna , Sasso Marcella , Cirillo Grazia , Luongo Caterina , Mariani Michela , del Giudice Emanuele MIraglia , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene has been found mutated for the first time in 5 families with familial precocious puberty. The inheritance pattern is particular being the MKRN3 a maternal imprinted gene. Moreover in a recent genome wide association study common intronic or intragenic variants harbouring this gene and other two imprinted genes, D...

hrp0086p1-p18 | Adrenal P1 | ESPE2016

Adult Individuals with Classic Congenital Adrenal Hyperplasia Exhibit Deficits in Executive Functions

Karlsson Leif , Zimmermann Marius , Wallensteen Lena , Barbaro Michela , Nordenstrom Anna , Hirvikoski Tatja , Lajic Svetlana

Background: Individuals with classic congenital adrenal hyperplasia (CAH) are treated postnatally with glucocorticoids. Earlier research with animals and other disorders with excess GC exposure implicate that GCs can influence memory. Deficits in working memory can be seen already during childhood in children with classic CAH.Objective: We tested the hypothesis that adult individuals with classic CAH show impaired cognitive functions.<p class="abstex...

hrp0082p2-d2-303 | Bone (1) | ESPE2014

Cleidocranial Dysplasia Misdiagnosed as Rickets in Three Generations

Franceschi Roberto , Maines Evelina , Fedrizzi Michela , Rosaria Piemontese Maria , Bellizzi Maria , Cauvin Vittoria , Di Palma Annunziata

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

hrp0095fc9.5 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Gonadal Function, Pubertal Development, and Fertility Outcomes in Male and Female Survivors of Medulloblastoma - a Single Tertiary Centre Experience.

Stern Eve , Ben-Ami Michal , Gruber Noah , Yalon Michal , Abebe-Campino Gadi , Caspi Shani , Lurye Michal , Toren Amos , Modan-Moses Dalit

Background: Endocrine deficiencies, including impairment of the hypothalamic-pituitary-gonadal axis (HPGA), are found in the majority of survivors of medulloblastoma, due to high-dose craniospinal irradiation and gonadotoxic chemotherapy. Data regarding HPGA function in survivors of medulloblastoma is limited to small groups of patients and focusses mainly on female survivors. Furthermore, few studies investigated specific risk factors such as treatment protoc...

hrp0089p2-p411 | Thyroid P2 | ESPE2018

Awareness of the Risks of Acquired Iodine Deficiency in Strict Vegan Diets

Brandt Agnieszka , Cheung Moira , Sakka Sophia , Ajzensztejn Michal , Hulse Tony

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

hrp0086p1-p615 | Growth P1 | ESPE2016

Immunogenicity Results of Once-Weekly Administration of CTP-Modified Human Growth Hormone (MOD-4023): A Phase 2 Study in Children with Growth Hormone Deficiency

Mendelson Michal Jaron , Bar-Ilan Ahuva , Hershkovitz Oren , Hart Gili

Background: CTP-modified hGH (MOD-4023) has been developed for once weekly administration in GH deficient (GHD) adults and children. Immunogenicity samples of once-weekly s.c. administration of MOD-4023 were detected for the presence of binding and neutralizing anti-MOD-4023 Ab’s in pediatric Phase 2 study.Objective and hypotheses: During the first year of the study, 53 pre-pubertal GHD children were treated with once-weekly s.c. injections of one o...