ESPE Abstracts

Introduction: The insulin-like growth factor 1 receptor (IGF1R) gene, located on chromosome 15q26.3, encodes the 1367 aa tyrosine kinase receptor IGF1R which is involved in many processes, including growth. Few heterozygous mutations and deletions of IGF1R leading to IGF-I resistance have been described in patients with intrauterine and postnatal growth retardation, microcephaly and variable learning difficulties. We report a not yet previous...

Background: Whilst multi-disciplinary intervention models for children and adolescents with obesity remain recommended best practice, there is a lack of long-term outcome data, especially in home-based models and programs embedded within the clinical setting. Whānau Pakari is a community-based multi-disciplinary assessment/intervention programme for child obesity, focused on reducing health inequity. Based in Taranaki, Aotearoa/New Zealand, it focusses on...

Introduction and aim: The education of the diabetic patients and their parents is an important phase of diabetic treatment. It is accepted in general that good control in diabetes is not possible without enough knowledge and experience about diabetes. In this study it is aimed to evaluate the relation between diabetic education levels of type 1 DM child/adolescent and parents and metabolic control.Material and method: The study included the patients and ...

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...

Background: The nutritional and hormonal state in utero may be a link between maternal obesity and obesity in the offspring. The gene expression in placentae in pregnancies complicated by diabetes is reduced for leptin, but increased for ghrelin. It is not known whether these genes’ expressions in placentae are altered in maternal obesity.Objectives and hypotheses: To compare obese and normal-weight women and their children concerning gene ...

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare mosaic disorder caused by somatic gain-of-function RAS mutations. It is characterized by segmental epidermal nevi and fibroblast growth factor-23 (FGF23) mediated hypophosphatemic rickets. These patients also have dysplastic cortical skeletal lesions. We describe an Emirati child with CSHS whose hypophosphatemic rickets and dysplastic skeletal lesions failed to heal due to poor adherence to conventional oral phospha...

Objectives: Diabetes mellitus (DM) as part of autoimmune dysregulation syndromes holds a unique place among DM monogenic forms. Early diagnosis of the disease is critical for pathogenetic therapy to be prescribed. We describe a clinical case of insulin-dependent DM in combination with severe autoimmune enteropathy in a young patient who had a novel compound heterozygous mutation in the LRBA gene.Methods: The patient unde...

Background: Involvement of multiple spesific endocrine organs in systemic lupus erythematosus (SLE), as initial manifestations, are quite rare. These manifestations can appear singly or combined. But they have been usually reported singly. We report a child case who coexists many of rare clinical features of SLE at the same time at onset.Objective and hypotheses: Polyglanduler autoimmune syndrome may be a part of SLE. Coexistence of many polyglanduler au...

Case: MMW was born at 39 weeks by elective caesarian section because of placenta praevia with a birth weight of 2.32kg.She was known to dietetics and medical services because of failure to thrive and short stature (BMI SDS -3.32, Height SDS -2.21). Due to chronic upper airways obstruction, she had a tonsillectomy at aged 2.5 yrs. Following this, appetite and weight improved (BMI SDS -1.3) but abdominal pains prompted blood investigations which revealed positiv...