ESPE Abstracts

Patients with type 1 diabetes (T1D) and their caregivers continue to face the challenge of maintaining blood glucose levels in the near-normal range, preventing sustained hyperglycemia associated with long-term microvascular and macrovascular complications, and avoiding recurrent episodes of hypoglycemia, especially at young ages when they can adversely affect cognitive function. In a follow-up to the Diabetes Control and Complications Trial, the Epidemiology of Diabetes Inter...

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...

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...

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...

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...

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...

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...

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...

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...