hrp0082s3.2 | Novel Insights into Monogenic Diabetes | ESPE2014

Neonatal Diabetes: New Genes, New Mechanisim, New Phenotypes

Ellard S

Recent years have seen significant progress towards defining the genetic aetiology of neonatal diabetes with >20 subtypes identified. It is likely that all cases of neonatal diabetes result from a single gene disorder since markers of autoimmunity associated with type 1 diabetes are rare in patients diagnosed before 6 months.Heterozygous activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the ...

hrp0082np2.2 | Regenerative Endocrinology | ESPE2014

Formation of a Thyroid Gland from Embryonic Stem Cells

Costaglioa S

Induced overexpression of defined transcription factors has been shown to have a directing effect on the differentiation of embryonic stem cells (ESCs) into specific cell types. Nevertheless, protocols promoting coordinated self-assembly of differentiated cells into distinct morphological units with functional properties reminiscent of organs and tissues in vivo are still very sparse. Our group recently reported efficient rescue of hypothyroidism in athyroid mice tran...

hrp0095mte5 | Initial evaluation of a suspected difference or disorder of sex development | ESPE2022

Initial evaluation of a suspected difference or disorder of sex development

Ahmed S. Faisal

It is important that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service is critical. The members of this service should be involved in education and training as well as ...

hrp0092s5.1 | Impact of Genomics on Growth | ESPE2019

Novel Insights into Genetic Disorders of Growth

Argente Jesús

Human growth is a very complex phenomenon that is influenced by genetic, hormonal, nutritional and environmental factors from fetal life throughout puberty. Although the GH-IGF axis clearly has a central role in this process, with specific actions on longitudinal growth, numerous other genes are also involved in determining stature. Indeed, genome-wide association studies have identified >600 variants associated with human height, but this still only explains a small fract...

hrp0084s10.3 | Growth plate in chronic diseases | ESPE2015

Bone Health in Chronic Disease

Wong Jarod S C

Abnormal bone development is commonly seen in children with chronic disease. However, fragility fractures in the young individual may be less common compared to older adults, which may be due to under recognition. The underlying chronic condition and medication can impact on bone turnover, modelling, bone mineral homeostasis, growth, pubertal development and muscle mass. The diagnosis and management of osteoporosis in children and adolescents with chronic disease remains conte...

hrp0084p3-1129 | Pituitary | ESPE2015

Thickened Pituitary Stalk with Central Diabetes Insipidus: What Diagnosis?

Merazka Amel , Achir S , Baz O , Foudil D , Mimouni S

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophysal system, for the children, Germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopituit...

hrp0084p3-1234 | Turner | ESPE2015

Cardiovascular Assessment in Turner Syndrome: Current Practice in the United Kingdom

Mason A , Smyth A , Ahmed S F , Wong S C

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

hrp0082p1-d3-19 | Adrenals & HP Axis (1) | ESPE2014

Development of Scotland Wide Process for Management of Acute Adrenal Insufficiency

Wardhaugh Barbara S , Reid Jacquie

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care across Scotland. A key role identified by the nurses group is developing information leaflets supporting patient care. It was recognized that there was no local unified approach to the management of adrenal insufficiency, especially in the home, community and acute setting. Of particular concern was the lack of a pathway of care from home to hospital and involvement ...

hrp0082p2-d2-306 | Bone (1) | ESPE2014

Effects of Recombinant Human GH on Bone Mass and Body Composition in Paediatric Inflammatory Bowel Disease

Altowati M A , Shepherd S , McGrogan P , Russell R K , Ahmed S F , Wong S C

Background: rhGH therapy may improve linear growth in children with inflammatory bowel disease (IBD). Poor bone health and abnormal body composition are recognised complications in paediatric IBD.Objective and hypotheses: To investigate the effects of rhGH on bone health and body composition.Method: Sub-analysis of 13 children with IBD (12CD; 1UC) in a randomized controlled trial. Either rhGH (0.067 mg/kg per day) as daily s.c. inj...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...