hrp0094p2-346 | Pituitary, neuroendocrinology and puberty | ESPE2021

The clinical and biochemical spectrum of pituitary lesions in children compared to adults: experience from a single tertiary center

Galazzi Elena , Carrara Silvia , Soranna Davide , Zambon Antonella , Maria Fatti Letizia , Moro Mirella , Persani Luca ,

We present a monocentric cross-sectional study of 55 children referred between 2000 and 2020 for pituitary lesions, who underwent a complete pituitary function assessment. These data were compared to results obtained in a group of 295 adults carrying pituitary lesions undergoing a complete pituitary screening. Follow-up data was available for 50 children and 248 adults. The mean age at diagnosis in children was 12.2±3.7 years (range 2.1-17.9), while in adults was 48.7&#17...

hrp0092p1-120 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Role of Priming in Peri-Pubertal Growth Delays: Preliminary Results of A Large Multicenter Study

Galazzi Elena , Improda Nicola , Cerbone Manuela , Soranna Davide , Moro Mirella , Fatti Letizia Maria , Zambon Antonella , Salerno Mariacarolina , Dattani Mehul , Persani Luca

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

hrp0094p2-79 | Bone, growth plate and mineral metabolism | ESPE2021

Clinical, molecular characterization and long-term follow-up of a patient with neonatal severe hyperparathyroidism

Padeira Goncalo , Carvalho Ana Isabel , Cavaco Branca M. , Virella Daniel , Lopes Lurdes Afonso ,

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...

hrp0092p1-10 | Adrenals and HPA Axis | ESPE2019

Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia – Insights from the I-CAH Registry

Bacila Irina-Alexandra , Blankenstein Oliver , Neumann Uta , van der Grinten Hedi L Claahsen , Krone Ruth , Acerini Carlo , Bachega Tania SS , Miranda Mirella C , Mendonca Berenice , Birkebaek Niels H , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Tomlinson Jeremy , Elsedfy Heba , Balsamo Antonio , Hannema Sabine , Higham Claire , Atapattu Navoda , Lichiardopol Corina , Guran Tulay , Abali Zehra , Mohnike Klaus , Finken Martijn JJ , Vieites Ana , Darendeliler Feyza , Guven Ayla , Korbonits Marta , de Vrie Liat , Costa Eduardo , Einaudi Silvia , van der Kamp Hetty , Iotova Violeta , Ross Richard , Faisal Ahmed S , Krone Nils P

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

hrp0092p2-54 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Crouzon Syndrome: A rare case report of a 2-month old boy with Micrognathia and Proptosis

Zhang Cai , Luo Xiaoping , Hou Ling

Objective: To diagnose a 2-month old boy with micrognathia and proptosis.Method: We summarized the clinical manifestations of the patient. Blood tests and imaging examinations were performed. DNA was isolated from peripheral blood cells. Whole exosome sequencing (WES) was conducted. Copy number variation (CNV) and loss of heterozygosity (LOH) was analyzed by Affymetrix CytoScan.Result</stro...

hrp0094p2-105 | Diabetes and insulin | ESPE2021

Recurrent episodes of hypoglycemia in an infant with type 1 spinal muscular atrophy after gene therapy: Beta oxidation defect exaggerated by hepatic dysfunction.

Alaaraj Nada , Hamed Noor , Soliman Ashraf , Omran Tawfeg Ben ,

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. In 2016, nusinersen (Spinraza) was approved by the FDA. The first AAV9-based gene therapy (Zolgensma), was approved by the FDA (2019) for the treatment of infants with SMA. We report an SMA case with recurrent hypoglycemic events after gene therapy.Case Report: A 22 months old boy, with SMA type 1 was born at term by CS for fetal bradycardia....

hrp0089p3-p273 | Multisystem Endocrine Disorders P3 | ESPE2018

Endocrine Complications in Beta-Thalassaemia Major Children

Iancu Mirela Elena , Albu Alice Ioana

Introduction: Beta-thalassaemia major is an inherited anemia which requires chronic transfusions and is frequently associated with endocrine dysfunctions secondary to iron overload. The aim of this study was to identify the prevalence of various endocrine complications in beta-thalassaemia major children over a period of 14 years and the factors associated with them.Materials and methods: 61 children with BTM (mean age 12.23 years) registered at the Endo...

hrp0089p3-p294 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Growth Hormone Deficit Associated to Complex Arteriovenous Malformation – Case Report

Mogoi Mirela , Velea Puiu Iulian , Paul Corina

Background: Arteriovenous malformations (AVMs) are rare in kids, estimated to represent 3% of all AVMs. They tend to rupture more frequently than in adults and, usually, are brought to attention after rupture, as the most common non-traumatic intracerebral hemorrhage. AVMs could also present with recurrent seizures or headaches. Their optimal management remains controversial.Case report: We present the case of a 4.5 y old boy, presented in our department...

hrp0086p2-p540 | Fat Metabolism and Obesity P2 | ESPE2016

Analysing Child Obesity Risk Factors: Adenotonsillectomy

Paul Corina , Velea Puiu Iulian , Mogoi Mirela

Background: Adenotonsillectomy is one of the most common surgical procedure performed in children in Romania. Child obesity also, seems to follow the same trend of increasing prevalence as worldwide.Objective and hypotheses: To determine if there is a relationship between adenotonsillectomy and postoperative weight gain in children.Method: The retrospective four year study included 235 children. After applying the exclusion criteri...

hrp0082p3-d2-783 | Fat Metabolism &amp; Obesity (1) | ESPE2014

The Association Hypothyroidism: Obesity in a Group of Children and Adolescents

Paul Corina , Mogoi Mirela , Velea Iulian

Background: Several studies suggested that hypothyroidism, especially subclinical hypothyroidism (SH), is rather a consequence than one of the causes of excessive weight.Objective and Hypotheses: We analyzed if there is a correlation between serum TSH, free thyroxine (FT4) and anthropometric measures in a group of overweight and obese children.Method: The study included 92 children (46 girls and 46 boys), mean age: 11.79...