ESPE Abstracts

Background and Aims: Central Precocious Puberty (CPP) caused by the early activation of the hypothalamic-pituitary-gonadal axis is a rare affection that occurs in 0.2% in girls. Clinical signs are suggestive and LHRH-test could be sometimes difficult to use and not always contributive. Gonadotropin assay in twenty-four hours-urinary collection could be an interesting option. The present work intended to evaluate the diagnostic interest of 24-hour urinary gonad...

Childhood cancer survivors (CCS), particularly brain cancer survivors, are at risk of developing growth hormone deficiency (GHD) due to hypothalamic-pituitary damage from direct tumor mass effects or treatment. Optimization of testing, long-term treatment, and monitoring during care transition from pediatric to adult endocrinology providers remain challenging. A group of endocrinology experts convened to discuss these challenges, the risks and benefits of GH therapy in CCS wit...

McCune Albright Syndrome (MAS, OMIM # 174800) is a rare congenital sporadic disorder with an estimated prevalence ranging from 1 in 1,00,000 to 1 in 100,000. MAS is caused by a post-zygotic somatic activating mutation of the GNAS1 gene resulting in an increased GSα protein signaling leading to hyperfunction of glycoprotein hormone receptors, autonomous cell proliferation, and hormonal hypersecretion. The mosaic constitutive activation of this signal transducer is clinical...

Background and Aims: A congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are interrupted by gene mutations. More than 90% of CAH, is caused by 21-hydroxylase (21OHD) deficiency. The 17α-hydroxylase (17OHD) deficiency one of the less common forms of CAH, can result in significant morbidity and mortality if left untreated, thus making early diagnosis essential. In Saudi A...

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Vosoritide is a biological analogue of C-type natriuretic peptide (CNP), a potent stimulator of endochondral bone growth. A Phase 2, open-label, sequential cohort, dose-escalation study was conducted to evaluate the safety, tolerability, and efficacy of vosoritide for 24 months in children with ACH aged 5&#150...

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Background: Central precocious puberty (CPP) is a rare disorder that occurs five times more often in girls. Patients are mostly healthy children whose pubertal maturation begins at an early age: girls <8 years; and boys <9 years. Imaging usually reveals no abnormalities in girls while in boys abnormal MRI findings are more frequent.Objective and hypotheses: We describe three cases of CPP in children with autism, a rarely reported association....

Background: Pain represents one of the most stressful experiences for children undergoing medical therapies (Kortesluoma, 2008), but is under represented in literature for what concerns pediatric endocrinology. Children consider Injections one of the most painful, frighteningand distressing procedures (Fassler, 1985). The treatment for patients with Growth Hormone Deficiency requires daily subcutaneous injection, performed by parents or patients themselves. Th...

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...