hrp0082p3-d3-658 | Autoimmune Endocrine Disease | ESPE2014

Increasing Testicular Size due to Bilateral Large Cell Calcifying Sertoli Cell Tumours in a Peri-Pubertal Child with Carney Complex

Geoghegan Sarah , Morrissey Rose , Moore Michael , O'Sullivan M , Murphy Michelle , Irvine Alan , O'Riordan Stephen , Quinn Fergal , O'Connell Susan

Background: Carney complex (CNC) is a rare multi endocrine neoplasia syndrome associated with endocrine and non-endocrine tumours. Three types of testicular tumour have been described; large cell calcifying Sertoli tumours (LCCST), Leydig cell tumours and testicular tumours of adrenal origin. LCCST is a rare benign stromal tumour, which has been observed in 41% of males affected with CNC, usually appearing in the first decade of life. It can be hormonally active, presenting wi...

hrp0084s5.2 | Developmental Programming: Novel concepts | ESPE2015

Transgenerational Developmental Programming of Endocrine Disease

Ozanne Susan

It has been recognized for over 20 years that there is an association between patterns of early growth and long-term risk of traditionally adult onset diseases such as type 2 diabetes. This has been observed both in human epidemiological studies and in animal models. This led to the concept of the developmental origins of health and disease that suggests that the environment to which an individual is exposed during critical periods of development, such as the in utero...

hrp0084p3-1146 | Puberty | ESPE2015

An Elevated Tumour Marker and Adrenarche in a Child Using Lavender Oil: A Case Report

Lathrop Susan

Background: ‘D’ was a 7 year old Caucasian female who presented with a history of adult-type body odour starting at age 3 years. At age 6y 9m her bone age was 7y 10m. She had had a sharp increase in her weight in the past 2 years and her PCP noticed pubic hair growth. Her very anxious single mother was convinced she had a serious illness that needed immediate intervention.Case presentation: At presentation, D had Tanner 2 pubic hair and Tanner ...

hrp0082p2-d3-354 | Diabetes (2) | ESPE2014

An Infant with a Novel Kir6.2 Mutation Causing Neonatal Diabetes and Unexplained Lack of Response to Sulphonylurea

O'Connell Susan M , Mc Donald Aoife , O'Toole Norma , Bradfield Anne , Bradley Maura , Hattersley Andrew , Ellard Sian , Proks Peter , Mattis Katia K , Ashcroft Frances , O'Riordan Stephen M P

Background: Neonatal diabetes (NDM) is defined as diabetes developing before 6 months of age, affecting one in 100 000 live births. Permanent NDM is diagnosed in the first 6 months of life with no remission. The majority have a mutation in the ATP-sensitive potassium (KATP) channel (KCNJ11 in 31%, ABCC8 in 13%). Autosomal dominant and recessive forms are described. The majority of patients with NDM caused by KATP mutations respond to sulphonylureas.<p...

hrp0095p2-170 | Growth and Syndromes | ESPE2022

A rare case of a child with Type 1 diabetes who was subsequently diagnosed with both growth hormone deficiency and Turner Syndrome

Boyd Susan , Kotlyarevska Kateryna

Background: The association between Turner syndrome and Type1/ Type 2 diabetes is well known. Growth hormone is also utilized in Turner syndrome to improve height outcomes, but association of Turner patients with growth hormone deficiency is rare. To my knowledge, there are no cases of concurring Turner syndrome, Type 1 diabetes, and growth hormone deficiency.Objectives: To describe a rare case where a child diagnosed wi...

hrp0089p3-p130 | Fat, Metabolism and Obesity P3 | ESPE2018

Familial Partial Lipodystrophy, Importance of Family History – A Case Report

Stockley Camilla , Holder Susan , Rangasami Jayanti

TN was seen in India aged 7 years by her GP, with concerns about tall stature and increase in belly fat. She had a family history of diabetes, high cholesterol and early deaths. Her mother has diabetes, a round face and prominent limb musculature with very little subcutaneous fat. TN was investigated by a paediatric endocrinologist in India. Tests showed high triglycerides and insulin levels at the upper level of normal for her age. She was put on a strict diet and exercise pr...

hrp0082p2-d1-284 | Bone | ESPE2014

Increased Fracture Rate in Children and Adolescents with Marfan Syndrome

Trifiro Giuliana , Marelli Susan , Mora Stefano , Pini Alessandro

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

hrp0095p1-327 | Growth and Syndromes | ESPE2022

A comprehensive assessment of patient-reported outcome measures in children and parents of children with achondroplasia: Results from a qualitative research and mapping exercise.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Crews Chandler , Alves Inês , Noval Susan , Haider Amer , Cho Terry , Lee Anne , H. Colwell Hilary , Muslimova Elena

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

hrp0095fc4.3 | Fat, Metabolism and Obesity | ESPE2022

Impaired Brain Satiety Responses by Functional Neuroimaging After Weight Loss Therapy in Children with Obesity

Roth Christian , Melhorn Susan , DeLeon Mary , Rowland Maya , Elfers Clinton , Huang Alyssa , Saelens Brian , Schur Ellen

Background: Obesity interventions often result in increased motivation to eat after weight loss.Objective: We investigated relationships between obesity outcomes and changes in brain activation by visual food cues and hormone levels in response to obesity intervention by family-based behavioral treatment (FBT).Design, Methods, and Participants: Functional neuroimaging and plasma ho...

hrp0089fc6.2 | Fat, Metabolism and obesity | ESPE2018

Impaired Brain Satiety Responses to a Meal in Children with Obesity

Roth Christian , Melhorn Susan , Elfers Clinton , Scholz Kelley , De Leon Mary Rosalynn , Saelens Brian , Schur Ellen

Behavioral studies suggest that brain satiety responses to food consumption are altered in children with obesity. We studied brain regions involved in satiety processing using functional magnetic resonance imaging (fMRI) before and after a test meal. Satiety-related hormonal changes were assessed. Fifty-four 9-11 year-old children with obesity (OB) and 22 children with healthy weight (HW) were studied. Subjects underwent two fMRI scans, one before and one after a test meal, an...