hrp0082wg2.7 | Global paediatric Endocrinology and Diabetes | ESPE2014

Long Acting Insulin: Friend or Foe?

de Beaufort Carine

Current treatment in type 1 diabetes focuses on the development of physiological insulin replacement. Although this has led to the increased progress in the development of semi closed loop systems and different algorithms allowing this, the majority of youth still has to cope with insulin injections. Improving metabolic outcome with injection therapy has become more demanding, imposing an increased number of injections and improved knowledge of food composition. For those able...

hrp0082p3-d3-864 | Growth (4) | ESPE2014

The Establishment of a New Paediatric Endocrinology Training Programme in South Africa

de Villiers Francois

Background: During the 1980s there were no officially accredited training programmes for subspecialty training in South Africa. Accordingly, doctors with accreditation from other countries, or with extensive experience in the subspecialty, were recognised as subspecialists, based on peer review.Objective and hypotheses: The objective of this poster was to document the development of a new Paediatric Endocrinology programme in a previously disadvantaged m...

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...

hrp0084p3-1248 | Programming & Misc. | ESPE2015

The Development of a Publication Presentation Workshop: Enhancing the Publication of African Paediatric Endocrinological Research

de Villiers Francois

Background: There is much activity in Africa in Paediatric Endocrinology. The international societies, ESPE, and ISPAD helped significantly in the development of paediatric endocrinology training. Considerable research is being done at the PETCA in Kenya, PETWCA in Lagos and elsewhere, but too few of the studies are published. Owing to the pressure of clinical work in Africa most endocrinologists have difficulty in completing their research.Objective and...

hrp0094s5.1 | Novel Therapies in Endocrinology | ESPE2021

Novel Therapies in the Treatment of Congenital Hyperinsulinism

De Leon-Crutchlow Diva ,

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children. In the past 20+ years there have been tremendous advances in the understanding of the molecular genetics of HI, including the discovery of the mechanisms responsible for a focal form of the disease that can cured surgically. However, treatment options for non-focal HI continue to be limited, with only one drug currently approved for this indication. As a result of delay...

hrp0094p2-93 | Bone, growth plate and mineral metabolism | ESPE2021

Characterization of Patients with Achondroplasia in a pediatric clinic of Cali, Colombia.

de Beldjnna Liliana Mejia ,

Introduction: Achondroplasia is the most common of the skeletal dysplasias and short stature with severe anatomic disproportion. Bone endochondrial growth is affected. The entity was described by Depaul in 1851 and the name which comes from the Greek word chondros (cartilage) and plasis (formation) was given by Parrot. It is an autosomal dominant monogenic disease with complete penetrance. Incidence is 1/25000 to 1/40000 of live births. It is caused by a mutat...

hrp0095rfc6.4 | Sex Development and Gonads | ESPE2022

Sertoli cell dysfunction at diagnosis in children with haematological malignancies

Lopez Dacal Jimena , Prada Silvina , Gabriela Ropelato Maria , Gabriela Ballerini Maria , Eugenia Rodriguez Maria , E. Gutierrez Marcela , Soria Marcela , Morán Lorena , Ferraro Cristina , Bedecarrás Patricia , Drelichman Guillermo , Aversa Luis , Bergadá Ignacio , A. Rey Rodolfo , P. Grinspon Romina

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

hrp0095p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Analysis of the GHR gene poly¬morphism in a non-disgenetic 46,XY DSD cohort without molecular diagnosis.

Celeste Mattone Maria , Perez Garrido Natalia , Costanzo Mariana , Hidalgo Lorena , Berger Malena , Zoff Luciana , Sonia Baquedano Maria , Ramirez Pablo , Berensztein Esperanza , Ciaccio Marta , Marino Roxana , Belgorosky Alicia , Guercio Gabriela

Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryon...

hrp0094p1-144 | Sex Endocrinology and Gonads B | ESPE2021

Ovarian AMH production is transiently affected in pubertal and prepubertal girls with acute lymphoblastic leukaemia and non-Hodgkin lymphoma receiving chemotherapy: a prospective, longitudinal study.

Lopez Dacal Jimena C. , Prada Silvina , Gutierrez Marcela E. , Bedecarras Patricia , Ropelato M. Gabriela , Arcari Andrea , Ballerini M. Gabriela , Gryngarten Mirta , Soria Marcela , Moran Lorena , Ferraro Cristina , Freire Analia , Bergada Ignacio , Drelichman Guillermo , Aversa Luis , Rey Rodolfo A. , Grinspon Romina P. ,

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...