ESPE Abstracts

Background: Small gestational age (SGA) is defined by a small size and/or a birth weight <−2 DS/standards for the term of pregnancy. Most of these children catch up to their size in the first 2 years of life. Only 10% of them will stay with a size of <−2 DS. These children may benefit from treatment with GH, which improves their stature prognosis.Objective and hypotheses: Study the final height of children with IUGR have reached adult...

Background: The hypothyroidism is defined by an elevated TSH with normal fT4 and the absence of symptoms of hormonal deficiency. In children and adolescents, it is mainly due to chronic thyroiditis or radiotherapy for cervical cancer.Objective and hypotheses: Assess clinical, etiological and evolutionary characteristics of subclinical hypothyroidism in children and adolescents.Method: This is a retrospective and prospect...

Introduction: During management of Diabetic ketoacidosis (DKA), and after starting the insulin infusion, it is crucial to monitor the blood glucose level frequently. If the glucose level drops quickly or below certain limit when there is still an evidence of ketonemia, it is recommended to add dextrose to the maintenance fluids and continuing the insulin infusion to switch off the ketosis process. However certain measures are required when the glucose continue...

Introduction: Diabetic ketoacidosis (DKA) is a known complication of diabetes mellitus, mainly type1. It is a medical emergency condition. The recent British paediatric DKA guideline clearly recommends involving a senior clinician at time of diagnosis, usually either an emergency medicine or general paediatric doctor. There is no clear recommendation of when to consult the on-call paediatric endocrinologist or diabetologist who covers the admission of diabetic...

Background: Osteoporosis pseudoglioma syndrome (OPPG) characterized by congenital or early onset blindness with severe juvenile onset osteoporosis. OPPG is a rare autosomal recessive disorder due to loss of function mutation in the low-density lipoprotein receptor like protein 5 (LRP5).Methods: Two patients (siblings) underwent clinical examination, including a complete ophthalmic evaluation. Diagnosis of OPPG was based ...

Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 23900) is a potentially lethal autosomal recessive disorder characterized by severe hypercalcemia, markedly elevated serum PTH levels and skeletal abnormalities that include multiple fractures, demineralization and erosions. It is secondary to biallelic loss of function mutation in the CASR gene that encodes the calcium sensing receptor.Case presentation: We identified a 10-day old baby ...

Background: Phenylketonuria (PKU) is an autosomal recessive disorder that primarily affects the brain. Patients are at risk for intellectual disability, developmental disorder, hyperactivity, seizure, autism, and so on. The aim of this study was to compare the PKU phenotypes in Qazvin province, Iran before and after neonatal screening until 2017.Methods: All children with PKU (61 patients) in Qazvin province, Iran who had been diagnosed before a...

5-alpha reductase converts testosterone to dihydrotestostrone. SRD5A2 mutation leading to deficiency of 5-alpha reductase causes a disorder of 46,XY sex development named 5-alpha reductase type 2 deficiency. Due to deficit of this enzyme, female external genitalia is common sign of disease in 46,XY individuals. SRD5A2 mutations have been reported in different ethnicities. Here, mutations of this gene are reported in Iranian subjects. Affected individuals were subjected to stud...

Background: Congenital adrenal hyperplasia (CAH) is a pathology with a genetic deficiency of one of the enzymes of steroidogenesis. It is due to 21 –Ohase deficiency in 90–95% of cases. The complete deficiency of this enzyme is responsible for the classic form (sexual ambiguity at birth with or without salt loss). While the partial deficiency results in a polymorphic clinical presentation occurring in childhood or adolescence. In rare neglected cases, the diagnosis i...

Background: Type 1 diabetes (T1D) is one of the most common chronic diseases in childhood and adolescence. Diabetic ketoacidosis (DKA) and severe hypoglycemia are complications of T1D and are associated with significant morbidity and mortality.Objective and hypotheses: The aim of this study was to determine the prevalence of acute metabolic complications in children with T1D admitted to the children hospital in Qazvin during 2005–2014.<p class="...