hrp0095p1-104 | GH and IGFs | ESPE2022

SARS-CoV-2 pandemic and GH treatment: new strategies to abate the distance

Corsello Giovanni , Campa Luigi , Cristina Maggio Maria

SARS-CoV- 2 pandemic induced to develop new strategies to abate the distance between patients, families and paediatricians, especially in cases of patients who need long-term therapies. Furthermore, the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals induced paediatric endocrinologists to limit visits and to consider a new setting to assist children in treatment with growth hormone (GH). Telemedicine and smart-working cou...

hrp0095p1-150 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pubertal dysfunctions in intracranial germ cell tumours

Partenope Cristina , Carceller Fernando , Albanese Assunta

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

hrp0089p3-p355 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

The Republic of Colombia Has a Constitutional Jurisprudential Precedent Identified as T622 of 2014,1 This Sentence Reaffirms the Importance of the Accurate Diagnosis of Intersexual Patients and Updates How the State Looks at Them2

Ferreyra Silvia Cristina Chahin , Alvarez Federico Mejia

Cause: The Colombian Society of Urology published in May 1993; A Modern Approach to Sexual Ambiguity Syndromes which discuses sexual differentiation and sexual disorders associated with sexual development to determine a binary gender with surgical reconstruction.Objective: Gather the members of ACEP (Colombian Association for Pediatric Endocrinology) to clarify, update and create an approach of human sexuality from a biosociocultural pe...

hrp0086p2-p169 | Bone & Mineral Metabolism P2 | ESPE2016

Rickets as Precocious Sign of Celiac Disease

Cristina Maggio Maria , Vergara Beatrice , Corsello Giovanni

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

hrp0082p3-d3-848 | Growth (2) | ESPE2014

Severe Short Stature with Features of Achondroplasia, Later Diagnosed as Panhypopituitarism: a Case Report

Matei Cristina , Karam Maria , Peters Catherine

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.Method: Retrospective review of notes, investigations and pa...

hrp0098p3-153 | Growth and Syndromes | ESPE2024

A case of Albright Hereditary Osteodystrophy (AHO)- Journey to diagnosis.

Dakhlia Ines , Matei Cristina , Willemsen Ruben

Background: Albright hereditary osteodystrophy (AHO) is a rare constellation of dysmorphic physical features such as short stocky build, round face, cutaneous ossification, and metacarpophalangeal abnormalities as well as pseudohypoparathyroidism (PHP) with variable hypocalcemia, and hyperphosphatemia. This hereditary metabolic disorder is caused by a mutation in the GNAS1 gene in the q13.11 region of chromosome 20.Case Report:</...

hrp0082p2-d3-404 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Cystic Fibrosis: Dyslipidemia in Brazilian Children

Araujo Ana Catarina , Bezerra Ana Cristina , Monte Luciana , Moreira Cristina , Abdalla Andrea

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

hrp0084p3-1023 | Growth | ESPE2015

Alterations of SHOX and Its Enhancers as a Cause of Short Stature: Evolution of Our Cases

Zuber Maria Laura Bertholt , Tomas Cristina Luzuriaga , Heath Karen , Martin Concepcion Freijo , Gonzalez Cristina Naranjo

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

hrp0095p1-102 | GH and IGFs | ESPE2022

Growth and Growth Delay in Children with Systemic Juvenile Idiopathic Arthritis: A Single Center Study

Cristina Maggio Maria , Genesia Alizzi Clotilde , Corsello Giovanni

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

hrp0095p1-142 | Multisystem Endocrine Disorders | ESPE2022

Two causes of short stature and delayed puberty in one patient: craniopharyngioma and celiac disease. A case report.

Simina MihutaMonica , Stoian Dana , Cepeha Cristina , Paul Corina

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...