hrp0082p2-d1-409 | Growth Hormone | ESPE2014

Ternary Complex Formation and IGFBP3 Proteolytic Activity During Childhood: Age-Dependent Changes

Renes Judith S , van Doorn Jaap , Hokken-Koelega Anita C S

Background: IGF1 is mainly sequestered in a 150 kDa ternary complex with IGFBP3 and the acid-labile subunit (ALS). Dissociation of IGF1 from the ternary complex is in part regulated by proteolysis of IGFBP3, which reduces its affinity for IGF1. Short children born SGA have lower IGF1 and IGFBP3 levels compared to healthy peers.Objective and hypotheses: To determine complex formation in healthy normal statured children, and assess variables influencing co...

hrp0082p2-d1-418 | Growth Hormone | ESPE2014

Response to GH Treatment in Patients with Silver Russell Syndrome

Smeets C C J , Renes J S , van der Steen M , Hokken-Koelega A C S

Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited....

hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

hrp0082p3-d1-671 | Bone | ESPE2014

A Challenging Diagnosis of Pseudohypoparathyroidism Type 1a and Practical Management: a Case Report

Grace M L , O'Riordan S , O'Connell S M , Bogue C , Joyce C , Allgrove J

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

hrp0084p1-59 | DSD | ESPE2015

Novel Genetic Associations in Children with Disorders of Sex Development and Neurodevelopment Disorders – Insights from the Deciphering Developmental Disorders study

Gazdagh Gabriella , Study DDD , Tobias Edward S , Ahmed S Faisal , McGowan Ruth

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

hrp0084p2-224 | Bone | ESPE2015

Fractures in Boys with Duchenne Muscular Dystrophy and their Relationship to Age

Joseph Shuko , Di Marco Marina , Horrocks Iain , Ahmed S Faisal , Wong S C

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...

hrp0084p3-1194 | Thyroid | ESPE2015

Development and Risk Factors of Thyroid Dysfunction in Patients with Positive TPO Antibodies

Gomez C Nicolas , McNeilly J , Mason A , Ahmed S F , Wong S C , Shaikh G

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

hrp0097p1-357 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of the pituitary gland in patients with Fanconi Anemia

Corredor Andrés Beatriz , Solis Muñiz Inés , Zubicaray Josune , Martín Rivada Álvaro , Barrios Sabador Vicente , Sevilla Julián , Argente Jesús

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...

hrp0095p1-551 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Impact of the COVID 19 pandemic on the incidence of precocious puberty

Trouvin Marie-Agathe , Thomas-Teinturier Cécile , Linglart Agnès

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...

hrp0092fc11.6 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Pubertal Timing in Parents is Associated with Timing of Pubertal Milestones in Offspring of Concordant Sex – but Only Inconsistently with Milestones in Offspring of Discordant Sex

Busch Alexander S , Hagen Casper P , Juul Anders

Context: Puberty timing is highly heritable. Recent genome-wide association studies, comparing timing of menarche in girls to timing of voice-break and facial hair in boys, revealed a largely overlapping genetic architecture of female and male pubertal timing. However, it is also known that genetic heterogeneity between sexes exists for some loci.Objectives: We hypothesized that self-reported relative parental pubertal t...