ESPE Abstracts

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Introduction: The onset of puberty is preceded by the activity of the hypothalamic-pituitary-gonadal (HPG) axis during infancy known as mini-puberty which is sexually dimorphic and more pronounced in male infants.Aims and objectives: the main objective was "To study LH(Luteinising hormone), FSH(follicle stimulating hormone) and Testosterone and testicular volume, stretched penile length (SP...

Background: Congenital hyperinsulinism (CHI) represent a group of clinically and genetically heterogonous disorder that characterized by unregulated insulin secretion by B-cells. It is the most common cause of hypoglycaemia in the neonatal period. Infants with diffuse CHI have homozygous or compound heterozygous mutation in the KATP channel and the majority are unresponsive to standard medical therapy and eventually they need near total pancreatectomy. Recent data showed the e...

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 ...

Background: Variability still exist about the growth response to growth hormone (GH) therapy in children with idiopathic short stature We describe the growth response to GH therapy ( 0.05 mg/kg/day) for > 2 years in 20 prepubertal children with idiopathic short stature (ISS) who had slow growth velocity ( < -1 SD), normal GH response to provocation and who were significantly shorter than their mid-parents height SDS MPHtSDS (-1 difference).<p class...

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...

Introduction: Diabetic Ketoacidosis (DKA) is one of the acute complications of type 1 diabetes. It is a life-threatening condition that varies in severity and prognosis from patient to another. In Egypt, there is no available data about the socio-demographic characteristics as well as the DKA severity determinants among childrenObjective: 1. To identify demographic, clinical and laboratory variables of pediatric patients diagnosed with DKA at Suez Canal ...

Introduction: Controversy still exists about the effect of GH treatment on linear growth and weight gain (WG) in children with ISS.Aim: To study linear growth and weight gain in children with ISS treated with GH vs those not treated in comparison with treated children with GHD.Methodology: We conducted a longitudinal controlled study on 78 children presented to a pediatric clinic with short stature...

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...