hrp0098p1-92 | Sex Endocrinology and Gonads 1 | ESPE2024

Phenotypic spectrum of WT1 gene variants in DSD

Celeste Mattone María , Turizo Carmen , Pérez Garrido Natalia , Gil Silvia , Cesar Ramírez Pablo , Roxana Marino , Laura Galluzzo Mutti María , Belgorosky Alicia , Ciaccio Marta , Berensztein Esperanza , Guercio Gabriela , Costanzo Mariana

Background: Wilms' Tumor Suppressor Gene 1 (WT1) plays an essential role in urogenital and kidney development. Germline variants in WT1 are associated with life-threatening glomerulopathy, disorders of gonadal development in both 46,XY and 46,XX individuals, Wilms tumor, and gonadal malignancies. Phenotypic overlap among 46,XY affected subjects has been frequently observed and there is still scarce information regarding renal involvement...

hrp0086p1-p633 | Growth P1 | ESPE2016

Evaluation of Prepubertal Patients with Suspected Neurosecretory Dysfunction of Growth Hormone Secretion: Diagnostic Steps and Treatment Response

Sydlik Carmen , Weiszenbacher Claudia , Pozza Susanne Bechtold-Dalla , Schmidt Heinrich

Background and aims: Existence and diagnostic procedures of neurosecretory dysfunction (NSD) are still a matter of debate. The aim of the study was to analyse prediagnostic data of short-statured children with pathologic and normal spontaneous GH-secretion and to evaluate the effect of GH-therapy in NSD-patients.Methods: Of 90 children aged 3–16 years, in whom 12-hour night profiles for GH-secretion were performed (unicentric), in 49 NSD was diagnos...

hrp0084p2-426 | GH & IGF | ESPE2015

The Acid-Labile Subunit Dose Matters? Response to Human GH Treatment in Patients with Acid-Labile Subunit Deficiency

Bechtold Susanne , Roeb Julia , Weissenbacher Claudia , Sydlik Carmen , Schmidt Heinrich

Background: In patients with acid-labile subunit (ALS) deficiency, the inability to build ternary complexes results in a marked reduction of circulating total IGF1. Height reduction by heterozygosity is about 1 SD in comparison to wild type. In homozygosity or compound heterozygosity a height loss of −2 to −2.5 SD occurs. This is suggestive of a gene-dose effect. How does treatment with human GH influence height development in relation...

hrp0084p3-949 | GH & IGF | ESPE2015

Plexiform Neurofibroma and Demielinisant Lesions in a Patient with GH Deficiency Treated with rGH

Cima Luminita-Nicoleta , Albu Alice , Fica Simona , Barbu Carmen Gabriela

Case report: A 13-year old boy treated with rGH for short stature due to isolated GH deficiency was submitted in our clinic in June 2014 for regular follow-up. From his medical history we note that he was diagnosed with GH deficiency in 2009 (−4.5 S.D.) and started treatment with rGH 0.035 mg/kgc per day since February 2009. The physical exam showed H=149.9 cm (−0.74 S.D.), 39 kg, Tanner P3G3 and a subcutaneous left paravertebral tumou...

hrp0092rfc3.5 | Multi-system Endocrine Disorders | ESPE2019

Evaluation of Endothelial Function in Childhood Standard Risk Acute Lymphoblastic Leukemia Survivors: Role of Subclinical Markers and Identification of Preventable Factors

Bruzzi Patrizia , Bigi Elena , Felici Francesca , Righi Beatrice , Cano Carmen , Cellini Monica , Predieri Barbara , Iughetti Lorenzo

Background: Adult survivors from childhood malignancy are prone to accelerated atherogenesis and cardiovascular (CV) complications. In this population reliable tools are needed to detect preclinical onset of CV disease.Aim: To assess subclinical markers of inflammation and endothelial dysfunction in young survivors from acute lymphoblastic leukemia (ALL) treated with chemotherapy without cranial irradiation (AIEOP 2000 a...

hrp0092p1-202 | Fat, Metabolism and Obesity (1) | ESPE2019

Visceral Adiposity Index as a Marker of Metabolic Risk in Survivors of Paediatric Hematopoietic Stem Cell Transplantation After Chemotherapy-Only Conditioning

Cima Luminita-Nicoleta , Nedelea Lavinia , Soare Iulia , Barbu Carmen Gabriela , Zaharia Cristina , Colita Anca , Fica Simona

Background: Hematopoietic stem cell transplantation (HSCT) recipients exhibit excess adiposity that may result in an increased metabolic risk. Studies have shown that BMI is a poor predictor of body fatness in pediatric HSCT survivors population where diminished lean mass has been documented. The visceral adiposity index (VAI) has recently been proposed as a predictor of cardio-metabolic risk in both adults and children. However, the predictive value of this i...

hrp0092p2-228 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Near Adult Height According to Genetic Target and Absence Of Craniofacial Bone Fibrous Dysplasia in a Girl With Mc Cune Albright Syndrome and Growth Hormone Excess: 12.6 Years Follow-up

Fernández Mentaberry Verónica , Riu Carmen , Oneto Adriana , Stivel Mirta

Background: Mc Cune Albright (MAS), is a rare genetic disease clinically defined by bone fibrous dysplasia (BFD), café au lait skin spots and at least one hyperfunction endocrinopathy. Growth Hormone (GH) excess has been described in 20% of patients usually accompanied by hyperprolactinemia (80%). As reported in literature GH hypersecretion is allways associated with craniofacial BFD, macrocephaly and is also accompanied by higher risk of systemic...

hrp0089p1-p037 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Hypercalcaemia after Treatment with Denosumab in Children: Bisphosphonates as an Option for Therapy and/or Prevention?

Sydlik Carmen , Weissenbacher Claudia , Roeb Julia , Roland Durr Hans , Bechtold-Dalla Pozza Susanne , Schmidt Heinrich

Background: Pharmacologic options for treatment of osteolytic diseases especially in children are limited. Although not licensed for use, denosumab, a fully humanized antibody to RANKL, is used in children and shows good effects. Among others, one indication are giant cell tumors of the bone. Yet, there are reports of severe hypercalcemia after stop of denosumab, an adverse effect which is rarely seen in adults.Case reports: Four patients, aged 6, 13 and...

hrp0089p3-p108 | Diabetes & Insulin P3 | ESPE2018

Psychosocial Risks, Comorbidities and Health Events During the Follow-up of Children and Adolescents with Type 1 Diabetes

Temboury Ma Carmen , Villamor Raquel , Hernandez Ma Belen , Lapena Sara , Lopez Cristina

Background: Psychosocial factors and health events are important for patients with chronic diseases such type 1 diabetes (TD1).Objective and hypotheses: The aim was to explore the psychosocial factors, health events and comorbidity found at diagnosis and during the follow up of children and adolescents with type 1 diabetes. Also to analyze the association between socioeconomic status and glycaemic control.Method: Medical charts of ...

hrp0089lb-p11 | Late Breaking P1 | ESPE2018

Metabolic Profile in Survivors of Pediatric Hematopoietic Stem Cells Transplantation after Chemotherapy-Only Conditioning

Cima Luminita-Nicoleta , Nedelea Lavinia , Zaharia Cristina , Colita Anca , Barbu Carmen Gabriela , Fica Simona

Background: Metabolic syndrome (MS) is a long-term complication of pediatric haematopoietic stem cell transplantation (HSCT) and it was described more often in patients who were exposed to total body irradiation (TBI). Since previous studies reported discrepancy in the presence of metabolic complications in HSCT survivors who underwent chemotherapy-only conditioning, we investigated the frequency of MS in our HSCT-treated children for various disorders without being exposed to...