hrp0082p2-d3-618 | Turner Syndrome | ESPE2014

GH Deficiency as a Cause of Persistent Hypoglycaemia in a Child with Turner Mosaic and Kabuki Syndrome

Ajzensztejn Michal , Shah Pratik , Abid Noina , Hurst Jane , Morrogh Deborah , McKee Shane , Hussain Khalid

Introduction: We report the first known case of a child with mosaic Turner syndrome (TS) with ring X chromosome abnormality and Kabuki syndrome (KDM6A deletion) presenting with hypoglycaemia secondary to severe GH deficiency. Ring X Turner’s mosaic have the XIST locus, so the chromosome is inactivated, however the KDM6A gene deletion associated with Kabuki syndrome escapes X-inactivation as it is falls below the threshold required to manifest inactivation. This r...

hrp0092na2 | Genomic Imprinting Analysis in Clinical Practice | ESPE2019

Genomic Imprinting Analysis in Clinical Practice

Mackay Deborah

Genomic imprints in humans are epigenetic marks inscribed upon our genomes from the earliest stages of our development, forming a permanent memory of our parental origin. Approximately 1% of human genes are imprinted, with expression that is permanently restricted to either the paternal or the maternal DNA. Genetic or epigenetic errors of imprinting cause a range of imprinting disorders, each with distinctive effects upon growth, development, metabolism and behaviour.<...

hrp0084s5.1 | Developmental Programming: Novel concepts | ESPE2015

Developmental Programming of Reproductive Function

Sloboda Deborah

There is now considerable epidemiological and experimental evidence indicating that early life environmental signals, including nutrition, affect subsequent development. It is now quite clear that a relationship exists between the periconceptional, fetal and early infant phases of life and the subsequent development of chronic diseases including obesity and type 2 diabetes. This relationship, the ‘developmental origins of health and disease’ (DOHaD), suggests that th...

hrp0092p1-38 | Diabetes and Insulin | ESPE2019

The Factors Associated with High Levels of HbA1C in Children and Young People with Type 1 Diabetes Mellitus

Ayoola Omolola , Kendall Deborah

Introduction: Patients with diabetes are encouraged to achieve good glycaemic control to reduce the risks of complications. Many factors are associated with glycaemic control.The objective of this study was to evaluate factors associated with good glycaemic control among a cohort of children and young people with type 1 diabetes in Lancashire United kingdom.Methods: All children and young people wi...

hrp0082p3-d3-939 | Puberty and Neuroendocrinology (1) | ESPE2014

Precocious Puberty due to Duplication of the Pituitary Gland

Minutti Carla , Goldstein Deborah

Case Report: A 7 years 5-month-old female presented in our clinic for evaluation of early pubertal development. Parents reported telarche occurring at age 6 years and menarche at age 7 years and 3 months. No history of development of pubic or axillary hair, adult body odor, or acne. Mother had menarche at 13 years of age. Physical examination revealed a height of 138 cm (>95th centile). Mid-parental height was calculated at 157 cm (20th centile). She was found to be Tanner...

hrp0086p1-p553 | Perinatal Endocrinology P1 | ESPE2016

Neonatal Diabetes in Ukraine

Globa Eugenia , Zelinska Nataliya , Temple Karen , Mackay Deborah , Hattersley Andrew , Flanagan Sarah , Ellard Sian

Background: We established a neonatal section of the Ukrainian Pediatric Diabetes Registry (UPDR) to identify cases of neonatal diabetes (ND).Objective and hypotheses: We investigated the genetic etiology and treatment of patients with ND.Method: According to the UPDR the number of children (0–17 y.o) with DM1 in 2015 was 8388 (a prevalence of one in 907), with DM2 – 36 (one in 211519) and with ND – 52 (one in 146436...

hrp0094fc9.6 | Growth Hormone and IGFs | ESPE2021

Impact of pre-transplant serum-IGF-1 on hematopoietic stem cell transplantation outcome in pediatric cancer patients

Betzmann Deborah , Doring Michaela , Blumenstock Gunnar , Erdmann Friederike , Grabow Desiree , Lang Peter , Binder Gerhard ,

Background: Hematopoietic stem cell transplantation (HSCT) is associated with severe medical complications and variable outcome depending on the recipient’s disease stage and health condition. As serum-IGF 1 is decreased in patients with severe illness, after major surgery, in malnutrition, and other conditions that cause catabolic metabolism, it may serve as predictive biomarker for transplant outcome.Individuals and Methods: Based...

hrp0094p2-369 | Pituitary, neuroendocrinology and puberty | ESPE2021

6-Month GnRHa Formulations Are a Good Choice During the COVID-19 Pandemic and Beyond

R. Benson Matthew , N. Atkinson Stuart , M. Boldt-Houle Deborah , Miller Bradley S. ,

Introduction: Achieving/maintaining effective hormone suppression is fundamental in treating Central Precocious Puberty(CPP). CPP patients are vulnerable to late dosing as they cannot self-administer and require clinic/hospital visits for injections, currently exacerbated by COVID-19. In children, the hypothalamic-pituitary-gonadal axis may rebound faster than elderly oncology patients, so hormone escapes are possible with late dosing. Additionally, the stimul...

hrp0084p3-675 | Bone | ESPE2015

Pseudohypoparathyroidism Type 1b, a Rare Diagnosis in Adolescents

Vlachopapadopoulou Elpida-Athina , Dikaiakou Eirini , Karavanaki Kyriaki , Anagnostou Elli , Tsitoura Maria-Eleni , Tsolia Mariza , Mackay Deborah J G , Michalacos Stephanos

Background: Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to parathyroid hormone (PTH), and possibly TSH, with or without features of Albright’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented with fatigue and spontaneous carpal spasms in association with a febrile viral infection. Past medical history was significant for an episode of asymptomatic hypocalcemia treated with...

hrp0089p3-p175 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Neonatal Diabetes Mellitus in Vietnam National Children Hospital

Ngoc Can Thi Bich , Dung Vu Chi , Thao Bui Phuong , Khanh Nguyen Ngoc , Mai Do Thi Thanh , Ellard Sian , Jayne Houghton , Flanagan Sarah , Mackay Deborah , Hoan Nguyen Thi

Introduction: Neonatal diabetes mellitus (NDM) is a rare (1:300,000–400,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized, transient NDM (TNDM) and permanent NDM (PNDM).Objective: To describle clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.Subject and method...