ESPE Abstracts

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease in which adrenal synthesis of glucocorticoids and mineralocorticoids is impaired and steroid biosynthesis is directed toward the formation of excessive androgens. Persistently high androgens will accelerate bone maturation and reduce final adult height.Objectives: To assess the efficacy of androgen antagonist Flutamide and aromatase inhibitor Tastolact...

Background: Diabetic neuropathy is recognised as the most common clinical picture of nervous system disorders caused by DM and is considered the most common type of neuropathies.Objective and hypotheses: To evaluate the relationship between the sonographically measured cross-sectional area (CSA) of the median nerve and nerve conduction study (NCS) in children with type1 diabetes (T1DM) complaining of DPN.Method: 40 children withT1D...

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: Electrophysiological techniques allowed identification of sub-clinical pathological changes and early diagnosis of diabetic peripheral neuropathy (PN). Neopterin is a marker of inflammation and cellular immune response that is elevated in conditions of T-cell or macrophages activation. Diabetic peripheral neuropathy (PN) is associated with inflammatory/immune processes and therefore, we hypothesized that neopterin could be used as a marker of neuropathy in type 1 d...

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...

Cafe au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, liver and cardiac dysfunction have been described as presenting features of neonatal McCune Albright Syndrome (MAS). Despite being defined, neonatal diabetes mellitus due to hypercortisolism is a rare presenting feature. Outcome of patients presenting in neonatal period is usually unfavorable, tthough spontaneous resolution of hypercortisolism have been reported. Newborn girl was born at 38 weeks of gestation v...

Background: Congenital combined pituitary hormone deficiency (CPHD) is a spectrum of disorders characterized by deficiencies in one or more pituitary hormones, ranging from isolated hormone deficiencies to complex hypopituitarism and severe midline developmental disorders. This study investigates the relationships between clinical features, laboratory findings, MRI results, and neurodevelopmental outcomes in patients with CPHD.Me...

Background and Objectives: In recent years, a growing number of studies investigated the profile of serum metabolomics in health and disease. These studies have led to the discovery of novel biological biomarkers and causative agents for a variety of medical conditions. Here, we focused on profiling serum metabolites of children diagnosed with growth hormone deficiency (GHD).Methods: We conducted a prospective study and ...

Background: Nail-fold capillaroscopy (NFC), a non-invasive tool that can detect microvascular changes, has recently gained popularity in the diabetes field as a warning sign before the development of diabetes-related complications.Objective: We aimed to assess capillary microarchitecture in children with type 1 diabetes mellitus (T1DM) by comparing them with a healthy control group.Subjects...

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...