ESPE Abstracts

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

Introduction: Subacute thyroiditis or De Quervain’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

Background: Autoimmune thyroid disease can be sometimes associated with autoimmune thrombocytopenia and decreased renal function.Case report: A 17-year-old female patient was referred to our endocrine department for evaluation of hypothyroidism (TSH=150 mcIU/ml, FT3=0 pg/ml, FT4<0.1 ng/dl) presenting severe fatigability and myalgia. From her medical history we mention that she was diagnosed with thrombocytopenia 1 year ago (85.000/mm...

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...

Background: The administration of GH on paediatric patients to optimize the longitudinal growth, can modify some cardiovascular risk factors due to their effects on metabolism.Objective and hypotheses: Evaluation of the effect of GH on total cholesterol blood levels (TCBL), fasting blood glucose concentration (FBGC), blood pressure (BP) and BMI, comparing these variables before starting treatment, after a year and at the end. And it also assesses whether...

Background: There is much activity in Africa in Paediatric Endocrinology. The international societies, ESPE, and ISPAD helped significantly in the development of paediatric endocrinology training. Considerable research is being done at the PETCA in Kenya, PETWCA in Lagos and elsewhere, but too few of the studies are published. Owing to the pressure of clinical work in Africa most endocrinologists have difficulty in completing their research.Objective and...

Introduction: A multicenter clinical trial in the US showed that underweight small for gestation (SGA) children responded to GH treatment like non-underweight SGA children. However, data on GH response in short underweight children with the normal birth size is not studied well.Aim: To measure growth response to GH therapy in underweight children versus short normal-weight children with idiopathic short stature (ISS) bor...

Background: The increase of global childhood obesity has led to an increase of associated co-morbidities also at a young age. The pro-inflammatory state and insulin resistance are two master regulators of several complications, including hypertension and pre-diabetes frequently connected in a complex crosstalk.Aim: To evaluate the relationship between glucose alterations and blood pressure and the pathogenetic involvemen...