ESPE Abstracts

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.Case 1: A boy aged 25 months was referred f...

Background: Growth hormone deficiency (GHD) in children is a rare condition. It may be idiopathic or may develop as a consequence of congenital or acquired organic pathology of the hypothalamic-pituitary axis. GHD can be partial or part of a combined pituitary deficiency. Brain magnetic resonance imaging (MRI) is very useful in establishing the etiology of GHD and predicting its severity.Study aims: To investigate the re...

Background: Hyperthyroidism is a condition rarely found in children. In the majority of cases, it is a Grave's disease whose clinical expression is very similar to that observed in adults.Objective: describe the clinical, evolutionary and therapeutic epidemiological features in children with hyperthyroidism and especially Grave's disease.Materials and Methods: This is a ret...

Background: Fahr syndrome is a rare degenerative disease, characterized by the presence of calcification of the basal ganglia.Autosomal recessive or dominant, variable penetrance.Usually asymptomatic in the first 2 decades, the disease typically manifests itself either at 30 years of age by the appearance of neuropsychiatric disorders, or at age 60 by progressive dementia with extrapyramidal syndrome.Case p...

The association of thyroid carcinoma with Graves' disease is considered rare and remains exceptional because it accounts for only 1-2% of childhood cancers.We report an observation of a 10-year-old girl from a goitrous endemic area (CHLEF) with exophthalmia. It shows signs of obvious thyrotoxicosis with with a very firm, homogeneous and asymmetrical goiter on the right.. A hormonal assessment, an echography and a thyroid scintigraphy confirm the ...

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by a dysfunction of the GnRH Axis. The clinical variability of the disease is accompanied by genetic heterogeneity. Indeed, more than 40 genes are implicated in the pathogenesis of this condition. The main goal of this present study was to characterize genetic defects in a large cohort of French CHH patients using a targeted NGS panel.Patients: a cohort of 120 unrelated patients (7...

Background: Ectopic thyroid tissue can be found anywhere along the normal path of thyroid descent, but is most commonly found at the base of the tongue, in which case it may be referred to as a lingual thyroid. Although the patients are usually asymptomatic, it can lead to symptoms such as dysphonia and dysphagia. We present a child patient with a lingual thyroid resulting in severe dysphagia that was cured surgically.Case presen...

Background and aims: Depression plays an important role among patients diagnosed with Type 1 Diabetes. It is believed that diabetes distress is recognised as major psychological issue in Pakistan. Our study aims to identify diabetes distress among Pakistani children patients diagnosed with type 1 Diabetes. We also aim to find out the relationship among depression, distress caused by Diabetes and glycemic control.Materials and methods: A cross sectional s...

Background: Diabetes Mellitus is the leading cause of morbidity and mortality especially in under developed countries like Pakistan. In type 1 Diabetes, there is autoimmune destruction of β cells which is genetically transmitted. Various factors are responsible for this autoimmune process like early use of cow’s milk, allergic food, absence of breastfeeding and various other factors.Objective: Our study aims to investigate the role of breastfee...

Background: Children under 25 diagnosed with neuroendocrine tumors often suffer from Malnutrition which raises the risk of infections. Being immunocompromised, there is a marked reduction on quality of life (QoL) and health outcome. Malnutrition also enhances the incidence of postoperative complications such as delayed wound healing, wound dehiscence, morbidities and mortalities.Aims: To investigate malnutrition among children diagnose with neuroendocrin...