hrp0094s12.1 | Epigenetics and Genetics in Endocrine Disorders | ESPE2021

Epigenetics, imprinting and growth

Temple I Karen ,

Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and ‘epimutations’ with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...

hrp0084p1-16 | Bone | ESPE2015

Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature

Sawyer Eileen K , Anderson Karen

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

hrp0098p2-200 | Multisystem Endocrine Disorders | ESPE2024

Pseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers Syndrome

Kelleher Karen , O'Connell Susan

Case presentation: We report on an Irish boy who presented aged 8 years old with an 18 month history of gradual right-sided gynaecomastia, which was surgically excised with good cosmetic outcome. He subsequently re-presented with left-sided breast tenderness and budding and was then referred to endocrinology. On review, his height was greater than the 99th centile, weight was on the 75th centile and bone age was advanced by 2 years and 9 months. Tanner staging...

hrp0092p1-178 | Diabetes and Insulin (1) | ESPE2019

The Efficacy and Safety of Predictive Low Glucose Suspend Feature in Decreasing Hypoglycemia in Children with Type 1 Diabetes Mellitus: A Systematic Review and Meta-Analysis

Alotaibi Ahlam , Alkhalifah Reem , McAssey Karen

Background: Hypoglycemia is a common side effect of insulin replacement therapy in patients with type 1 diabetes mellitus (T1DM). With the advancement of diabetes technology, sensor-augmented pump therapy (SAP) with predictive low glucose suspend feature offers a potential solution for hypoglycemia in patients with T1DM. However, evidence from randomized trials about the efficacy and safety of PLGS is limited.Method: We ...

hrp0092rfc3.4 | Multi-system Endocrine Disorders | ESPE2019

Peripheral Glucocorticoid Metabolim May Reflect Resolution of Inflammation in Kawasaki Disease

Sai Shuji , Tamura Takuya , Nagumo Kiyoshi , Chapman Karen

Background: Kawasaki disease (KD) is an acute inflammatory disorder, associated with systemic vasculitis including coronary artery aneurysms (CAA). Treatment with intravenous immunoglobulin (IVIG) can resolve inflammation. However, about 20% patients show resistant to IVIG treatment and some of the cases required additional treatments. Recently, IVIG plus adjuvant glucocorticoid hormones (GC) has been shown to be an effective therapy for these patients, su...

hrp0084p2-448 | Growth | ESPE2015

Determination of the Pathogenicity of SHOX P2 Promoter Variants, Identified in Patients with Léri-Weill Dyschondrosteosis or Idiopathic Short Stature

Belinchon Alberta , Benito-Sanz Sara , Heath Karen E

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...

hrp0084p2-472 | Growth | ESPE2015

Characterisation of Partial SHOX Deletions/Duplications Reveals Intron 3 to be a Hotspot Region

Benito-Sanz Sara , Belinchon Alberta , Heath Karen E

Background: SHOX, located on the pseudoautosomal region 1 (PAR1), encodes a transcriptional factor implicated in human skeletal growth. Alterations in SHOX or its regulatory elements are observed in ~70% of patients with Leri–Weill dyschondrosteosis (LWD), in ~90% with Langer mesomelic dysplasia (LMD) and ~2.5% of patients with idiopathic short stature (ISS). SHOX deletions/duplications are a frequent alteration, with the majority encompassing the entire gene.<p class...

hrp0098p1-2 | Adrenals and HPA Axis 1 | ESPE2024

Reciprocal regulation of 11b-HSD1/2 correlates initial glucocorticoids responsiveness in childhood acute lymphoblastic leukemia

Sai Shuji , Hirabayashi Shinsuke , Saito Yusuke , Chapman Karen , Manabe Atsushi

Background: Synthetic glucocorticoid (GC) form crucial first-line treatment for childhood acute lymphoblastic leukemia (ALL). However, some patients reveal GC resistance with unknown mechanism. We have previously shown that reciprocal regulation of the GC metabolizing enzymes, 11beta-hydroxysteroid dehydrogenase types 1 and 2 (11b-HSD1 and 11b-HSD2) is associated with GC sensitivity/resistance in ALL at diagnosis. 11b-HSD1 predominantly regenerates active GC f...

hrp0095p1-172 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Diabetes type 1 can induce testicular atrophy with Leydig cell hyperplasia and germ cell depletion and therefore prevents reproductive function and fertility in rats

Viola Wagner Isabel , Kloeting Nora , Kulle Alexandra , Rieck Karen , Söder Olle , Hiort Olaf

Research Aim: Diabetes type 1 can negatively influence testicular function and fertility but the pathomechanisms on the testicular level remain to be elucidated. Therefore, the aim of the study was to evaluate effects of diabetes mellitus type 1 disease on testicular function.Material and Methods: BB/OKL rats developed type 1 diabetes during adolescence. Rats were treated with different Insulin implants to achieve suffic...

hrp0095p1-390 | Thyroid | ESPE2022

Does serum thyroglobulin predict thyroxine requirement during infancy in athyreosis and thyroid ectopia?

Kallali Wafa , Neumann David , Jones Jeremy , Hunter Ian , Tasker Anthony , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...