hrp0089p1-p181 | Growth & Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

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.<...

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...

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...

hrp0086p1-p255 | Diabetes P1 | ESPE2016

Transient Neonatal Diabetes Mellitus in Hanoi, Vietnam: Clinical Feature and Outcome

Can Thi Bich Ngoc , Vu Chi Dung , Bui Phuong Thao , Nguyen Ngoc Khanh , Docherty Louise , Edwards Sian , Mackay Deborah , Temple Karen , Ellard Sian

Background: Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1, have also been implicated in TNDM.Objective and hypotheses: To describe clinical features and lab...

hrp0082fc9.4 | Beta cells | ESPE2014

Clinical Characteristics and Molecular Genetics Analysis of 20 Patients with Neonatal Diabetes Mellitus from a Single Centre of the South-Eastern Region of Turkey

Demirbilek Huseyin , Arya Ved Bhushan , Nuri Ozbek Mehmet , Houghton Jayne , Baran Riza Taner , Tekkes Selahattin , Mackay Deborah , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Background: Neonatal diabetes mellitus (NDM), either transient (TNDM) or permanent (PNDM), is a rare form of monogenic diabetes, and usually presents in the first 6 months of life.Objective and Hypotheses: To describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM from a single centre.Method: NDM patients presenting to Diyarbakır Children State Hospital between 2010 and 2013 were prospecti...

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...