hrp0094p2-362 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypopituitarism: the role of genetics

Gil Poch Estela , Javier Arroyo Diez Francisco , Mendez Perez Pilar , Galan Gomez Enrique ,

Hypopituitarism refers to the insufficient secretion of one or more pituitary hormones. If default is present at the time of birth is called congenital hypopituitarism (CH). Causes of this are perinatal pathology and genetic alterations. The clinical presentation is heterogeneous. The diagnosis is made by clinical suspicion supported by hormonal determinations, brain imaging test (MRI) searching of structural defects and genetic study. The development of the pituitary gland is...

hrp0097p1-440 | Diabetes and Insulin | ESPE2023

Monogenic forms of neonatal diabetes: our casuistics and evolution

Ángeles Santos Mata María , Pacheco Carrillo Aitana , Ruiz Ocaña Pablo , Macías López Francisco

Neonatal diabetes (ND) occurs in 1/100,000-150,000 newborns with hyperglycemia in the first six months of life, requiring insulin treatment for at least two weeks, with no autoimmune basis. Two forms are described, transitory (TND) and permanent (PND). In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases.CASE 1: Newborn with sustained hyperglycemia since the third day of life, requiri...

hrp0097p2-28 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Hipothalamic syndrome in craniopharyngioma: pre and post-surgery

Coelho Isabel , Francisco Branco Caetano , Iraneta Amets , Conceição Carla , Lopes Lurdes , Galhardo Júlia

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

hrp0082p3-d3-787 | Fat Metabolism & Obesity (2) | ESPE2014

Obese Teenagers and Risk of Injuries During School Physical Activity

Lemma Francesco , Messini Beatrice

Background: Injuries occur frequently in the obese young population even if they need to practice physical activity. The greatest part of Italian adolescents plays sports only at school.Objective and hypotheses: The aim of the study was to investigate the relationship between overweight and obesity, and the risk of injuries in adolescents during school physical activity.Method: This is a retrospective cohort study utilizing the ele...

hrp0084s10.1 | Growth plate in chronic diseases | ESPE2015

Molecular Mechanisms of Growth Plate Adaptation During Undernutrition

De Luca Francesco

It is known that almost 180 million children in the world have stunted growth. Most of these children live in eastern and central Africa and in South-central Asia. Among multiple factors causing stunted growth in the developing world, malnutrition is the most important one. On the other hand, reduced caloric intake is also a cause of poor statural growth in developed countries.Mammals, including humans, exposed to malnutrition experience poor bone growth...

hrp0084wg1.2 | Bone & Growth Plate | ESPE2015

The Role of NFkB in Growth Plate Chondrogenesis

De Luca Francesco

Nuclear Factor kappa B (NF-κB) is a group of seven transcription factors, including p65 (RelA), c-Rel, RelB, p50/p105 (NF-κB1), and p52/p100 (NF-κB2). Upon activation by a wide variety of stimuli, NF-κB translocates to the nucleus, where it modulates the expression of target genes involved in cell growth, survival, and death.Previous evidence indicates that NF-κB regulates bone growth and development. Mice deficient in both the N...

hrp0089p3-p037 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Hypophosphatemic Hypercalciuric Ricket: 3 Brothers with Dent’s Disease

Godoy Claudia , Grob Francisca , Gonzalez Gilberto , Vogel Andrea , Zambrano Pedro

Brother 1: 7 years old boy, with right genu valgum and short stature (−2,11 DS); X ray shows rickets features. Plasmatic Calcium 9.3 mg/dl; phosphate 2.5 mg/dl; Alkaline phosphatasas 460 U/l; Parathyroid hormone 83 pg/ml; 25OH Vitamin D 24 ng/ml. Urine calcium 159 mg/24 h (9.2 mg/K per day); Urine phosphate 870 mg/24 h; TmP/GFR 2.6 (NV:3.8 −5.0); proteinuria 100 mg/dl.Brother 2: 4 y.o boy with frequent respiratory diseases in infant period. G...

hrp0095p1-556 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Surprisingly high frequency of pituitary stalk thickening in pediatric patients during COVID-19 pandemic in Chile.

Zepeda Diego , Peña Fernanda , Pablo Fernandez Jose , Okuma Cecilia , Naudy Cristian , J Guarda Francisco , Isabel Hernandez Maria

Introduction: Pituitary stalk thickening (PST) is a rare condition in pediatric patients. As there are few studies published in pediatric population, the definition has been difficult to establish. The etiologies involved in PST can be divided in neoplastic, congenital, inflammatory/infectious or autoimmune diseases. In children the most frequent causes are neoplastic, followed by congenital lesions. The inflammatory/infectious and autoimmune diseases are rare...

hrp0095lb23 | Late Breaking | ESPE2022

Ten years of growth hormone treatment in children born small for gestational age with persistent short stature- results of a Portuguese multicenter study

Diamantino Catarina , Caetano Francisco , Luísa Leite Ana , Costa Carla , Vieira Paula , Novais Sandrina , Borges Teresa , Pereira Carla

Background: Growth hormone (GH) treatment is indicated for children who are born small for gestational age (SGA) and fail to achieve sufficient catch-up growth during infancy and remain short throughout childhood.Aims: To evaluate the effect of GH treatment in a large, multicentric, Portuguese SGA children cohort and to analyze for correlation between GH treatment response and clinical factors.<str...

hrp0095p2-89 | Diabetes and Insulin | ESPE2022

Design, certification and evaluation of an Insulin Infusion Therapy Care and Education Program (PAETII) in children/adolescents in a Pediatric Unit

J. Chueca Maria , Gabari Mercedes , Burillo Elisabeth , Berrade Sara , Herrero Sara , Francisco Laura , Lopez de Dicastillo Ana , Andres Carlos

A structured program of therapeutic education is essential to achieve a good result from the use of technology in the treatment of diabetes.Objectives: Facilitate knowledge, skills and aptitudes to patients and their families in therapy. Promote the capacity for self-management and adherence to treatment. Provide ongoing support to patients. Improve clinical outcomes, health status and quality of life.Metho...