hrp0082p2-d2-281 | Adrenals & HP Axis (1) | ESPE2014

Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution

Luzuriaga Cristina , Bertholt Maria Laura , Naranjo Cristina , Ezquieta Begona

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

hrp0082p2-d2-433 | Growth Hormone (1) | ESPE2014

Comparison of Measured Lean Body Mass (LBMDXA) and Estimated LBMBIA in Children with GH Deficiency

Schweizer Roland , Ziegler Julian , Frank Laura , Binder Gerhard

Background: Long standing GH deficiency (GHD) causes loss of muscle mass. DXA enables the measurement of LBMDXA but is accompanied with a potentially harmful X-ray exposition. BIA measures the electric resistance of the body which correlates with LBM. A comparison of both methods in children with GHD has not been performed yet.Aim: Calculation of a regression formula for LBM using resistance and anthropometry based on LBMDXA in chil...

hrp0084fc12.1 | Obesity - Clinical | ESPE2015

Evaluation of Cardiovascular Risk in Childhood: Data from a Survey of Dyslipidaemic Children

Bruzzi Patrizia , Colombini Giulia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo

Background: Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.Objective and hypotheses: To investigate the clustering of cardiovascular risk-factors (anthropometric parameters, blood pressure and metabolic abnormalities) in different type of dyslipidaemia in children and adolescents.Method: All the subjects aging 2–18 years referred for dyslipidaemia to our endocrine outp...

hrp0084p3-1131 | Puberty | ESPE2015

Growth Outcomes in Childhood Craniopharyngioma: A Longitudinal Assessment of 21 Cases at a Single Centre

Michaelidou Maria , Losa Laura , Ederies Ashraf , Spoudeas Helen

Background: Craniopharyngiomas are rare suprasellar tumours with good survival but high endocrine morbidity. The commonest endocrinopathy is GHd which can precede diagnosis. Later obesity (BMI >+2SDS) may be treatment or tumour related.Objective and hypotheses: To evaluate endocrinopathy, height, weight and BMI outcomes after a conservative surgical treatment strategy with pre-treatment pituitary provocation tests for children diagnosed between 2009 ...

hrp0084p3-1232 | Thyroid | ESPE2015

Malabsorption of Levothyroxine in a Child Affected by Short Bowel Syndrome

Paone Laura , Marini Romana , Diamanti Antonella , Cappa Marco

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...

hrp0094p2-372 | Pituitary, neuroendocrinology and puberty | ESPE2021

The impact of the Covid-19 pandemic on the UK National Hypothalamic-pituitary Axis Tumour (HPAT) multidisciplinary meeting

Bosch i Ara Laura , Spoudeas Helen , Wei Gan Hoong ,

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

hrp0097fc11.3 | GH and IGFs | ESPE2023

Analysis of a large panel of genes in a cohort of patients with severe short stature: detection rate and genotype-phenotype correlations

Guazzarotti Laura , Mozzato Chiara , Meneghin Alice , Nicolucci Antonio , Cassina Matteo

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

hrp0097p2-56 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Monogenic Diabetes (MODY) in Adolescents and Personalized Treatment.

Mozzato Chiara , Meneghin Alice , Monti Elena , Trevisson Eva , Guazzarotti Laura

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

hrp0097p2-174 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

HIgh variability of phenotypic expression of the same genotype in X linked hypophosphatemic rickets (XLH)

Meneghin Alice , Mozzato Chiara , Monti Elena , Guazzarotti Laura

X-linked hypophosphataemia (XLH) is a dominant disorder caused by mutations in PHEX (located at Xp22.1), associated with rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children. The characteristics and severity of XLH vary between patients. Early diagnosis and specific treatment is usually decisive to improve short and long term patient outcomes. We describe the variability of phenotype in two sisters carrying the ...

hrp0098p1-158 | GH and IGFs 2 | ESPE2024

Tailoring the long-acting GH therapy in the real life

Mozzato Chiara , Zoletto Silvia , Meneghin Alice , Guazzarotti Laura

Introduction: Guidelines recommend starting growth hormone (rhGH) as soon as possible in pathological short stature to promote growth and normalize final height. Despite efficacy and safety of rhGH, about 70% of patients have poor adherence to treatment, with consequently reduced therapeutic response. Somatrogon, a weekly long-acting GH (LAGH), may improve the therapy compliance and efficacy, reducing the number of injections. Despite it has been demonstrated ...