ESPE Abstracts

Background: More than >90% of cases of congenital adrenal hyperplasia (CAH) are caused by 21-hydroxylase deficiency, steroid 11β-hydroxylase deficiency accounts for 5–8% of cases.Objective and hypotheses: To seek evidence on the prevalence of CYP11B1 mutations in prepubertal girls, adolescents and adult females with clinical signs of hyperandrogenemia.Method: The study included 31 girls with premature adrenar...

Background: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder with more than 90% of cases caused by defects in the steroid-21 hydroxylase (CYP21A2) gene. Such defects are the main cause of 21-hydroxylase enzyme deficiency that affects the biosynthesis of cortisol and aldosterone. The CYP21A2 gene is part of the RCCX module, which is located on chromosome 6p21.3, in the major histocompatibility complex (MHC) class III reg...

Background: Early life stress (ELS) are known to have a deleterious impact on health, but their potential long-term consequences on mortality remain to be assessed. World War 1 (WW1) has caused major stress and bereavement to millions of European mothers.Objectives and hypotheses: To compare the effects of a maternal stress occurring during intra uterine or in postnatal life upon long-term mortality.Patients: Thanks to recently dig...

Background: A common cause of neurodevelopmental impairment in children is congenital hypothyroidism, but can be preventable with adequate screening and proper management. Preterm newborns are more likely to have thyroid dysfunction, with small for gestational age (SGA) being an additional risk factor. However, only few studies addressed the altered thyroid hormone concentrations in the first few weeks of life concluding that Thyroid-Stimulating Hormone (TSH) levels are higher...

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...

Background: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis and increasing evidence suggests a genetic origin. Premature activation of the GnRH secretion in CPP may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: To identify loss-of-...

There are several different techniques for assessing bone strength and fracture susceptibility in children namely; dual-energy x-ray absorptiometry (DXA), quantitative computed tomography (QCT), plain radiography and magnetic resonance imaging (MRI). The most readily available technique and recommended by the International Society of Clinical Densitometry (ISCD) is DXA. The advantage of DXA is that it is widely available, affords the child a low radiation dose and can assess f...

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: Vesico-ureteral reflux (VUR) is the most common urologic abnormality seen in children. It represents the backflow of urine from bladder to upper urinary structures due to a defect in closure of uretero-vesical junction. This condition predisposes children to repetitive pyelonephritis associated with renal scarring.Objective: Studies are continuously searching for the potential effect of VUR on growth. We aimed to assess growth indices: height...