ESPE Abstracts

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...

Key-words: Type 1 diabetes - growth abnormalitiesIntroduction: Autoimmune type 1 diabetes is the most common endocrine disease in children. Like any other chronic disease, it can affect their growth. The aim of our work was to describe the different growth abnormalities observed in type 1 diabetic patients followed-up in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in the easte...

Background: Childhood obesity is highly prevalent in the MENA region and may be associated with sub-clinical neuropathy.Methods: Children with obesity with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and Type 2 diabetes Mellitus (T2DM) and healthy controls (HC) underwent body composition analysis, assessment of vibration perception threshold (VPT), monofilament sensitivity and corneal confocal micros...

Background: 5α-reductase type 2 deficiency (SRD5A2) is a rare cause of 46,XY DSD. Consensus guidelines on sex of rearing assignment at birth favours male gender. Typically undervirilised genitalia at birth virilise variably at puberty, posing gender identity challenges.Aim: We describe relevant data on clinical phenotype, hormonal and molecular workup and gender preference in patients with SRD5A2 deficiency from a ...

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

Introduction: Disorders of sex development (DSD) are a group of congenital disorders in which the development of chromosomal, gonadal, and anatomical sex is atypical and disharmonious. These DSD may constitute a medical emergency (a salt-wasting syndrome in congenital adrenal hyperplasia) or a social emergency due to the parents’ anxiety generated by the difficulty of assigning the child's sex at birth. Providing urgent and adapted care defining the sexual orientat...

Introduction: Growth hormone deficiency (GHD) is a non-exceptional cause of short stature. Hormonal evaluation and hypothalamic-pituitary MRI are essential to establish the etiological diagnosis. The objective of our study is to assess the different pituitary lesions found in imaging in a group of children with GHD.Patients and Methods: This is a retrospective longitudinal study of 23 cases of GHD who underwent pituitary...

Introduction: The relationship between the level of vitamin D and the IGF1 is complex. A normal level of vitamin D is necessary for good bone growth. On the other hand, the normal growth process is affected by the excess or the deficit of growth hormone. Thus, the main purpose of our work is to demonstrate the particularity of the vitamin D status of patients with growth hormone deficiency compared to other causes of short stature.<stron...