ESPE Abstracts

Introduction: After contact with the antigen, lymphocytes require activation for proliferation and differentiation into effector cells. Activation of lymphocytes results in the expression of activation markers. The CD69 antigen appears first on the surface of lymphocytes. This occurs one hour after receiving the activation signal. The CD69 molecule acts as a cellular stimulating signal, causing further activation and proliferation of cells, stimulating the syn...

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

Background: It has been suggested that Vitamin A intake may affect height velocity in children with GH deficiency (GHD) who were under GH replacement (GHR).Objective and hypotheses: Aim of the study was to evaluate vitamin A levels in GHD children under GHR.Method: Vitamin A levels were measured in 38 children (23 males, mean age 10.8 (S.D. 3.3) years) with GHD, after mean duration of GH treatment of 3.1 (S.D....

Abstract: Hypoglycemia is a frequent and one of the major metabolic emergencies in any age, causing a significant dilemma to reach the correct diagnosis and perform the appropriate management. it Has potentially devastating consequences on brain development and cognitive functions. It Is a heterogeneous disorder with many different possible etiologies, including hyper-insulinism, glycogen storage diseases, fatty acid oxidation defects, hormonal deficiencies (g...

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Background: The Clock/Bmal1 transcription factor heterodimer regulates the circadian activities of many biological systems, including the hypothalamic-pituitary-adrenal (HPA) axis, by trans-activating or trans-repressing downstream target genes. 1,25 Dihydroxy Vitamin D (Vitamin D), a sterol hormone that is activated by exposure to sunlight, plays a fundamental role in maintaining calcium and phosphorus homeostasis. Recent evidence suggests that the nuclear vi...

Background: The circadian rhythm-generating peripheral Clock/Bmal1 heterodimer complex regulates the circadian activities of many biological systems, including the hypothalamic-pituitary-adrenal (HPA) axis, by trans-activating or trans-repressing downstream target genes.Objective and Hypotheses: To investigate the potential role of elevated cortisol in Clock/Bmal1 heterodimer complex-generated circadian biorhythms, both ...

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...