ESPE Abstracts

Background: We previously reported the first human mutation in mini-chromosome maintenance homologue 4 (MCM4) in a cohort of patients with adrenal failure, immunodeficiency and chromosomal fragility.Objective and Hypotheses: To report the full endocrine phenotype of 14 patients with MCM4 mutations.Method: Patients case notes were examined and investigations performed to fully assess adrenal function, pubertal development, gonadal f...

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: For diagnosis of syndrome of hypoglycemia unawareness is used Clarke and/or Gold questionnaire. Frequency of this syndrome in children with type 1 diabetes (T1D) and its association with parameters of metabolic control including the CGM data are not well characterised.Aims and methods: The aim of our study was to find the prevalence of this syndrome in children with T1D (age 8-19 years) followed at our depa...

I will review the latest developments in imaging of the brain using magnetic resonance. Over the last twenty years imaging of the diffusion of water molecules in the tissue has emerged as the method of choice for measuring the structure of brain tissue. The development of so called diffusion tensor imaging had allowed measurement of anisotropy which reflects how aligned or coherent is the underlying structure of myelinated axons in white matter. For example we have shown in ch...

Background: We present a boy with classical adrenal hyperplasia (CAH) and constantly increased 17-OH-progesterone (17-OH-P) values despite multiple dose adjustments of hydrocortisone up to 18 mg/m2 body surface and addition of fludrocortisone. After puberty, therapy was changed from hydrocortisone to prednisone without improvement of the 17-OH-P values. Non-compliance was suspected as cause of the inadequately controlled CAH. Alternatively, an atypical steroid metab...

Background: Over the last 25 years more than 410 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. Mutations in the MC2R were first discovered as causative of FGD in 1...

Background: The adiposity measurement by reliable methods such as dual X-ray absorptiometry (DXA) is not feasible in routine medical care and instead of this, the anthropometric methods are used. However, these methods could be inaccurate to estimate the body fat content. Additionally, in pediatric patients, some anthropometric indexes requires percentiles or Z-scores for their interpretation, like the body mass index (BMI) or the waist circumference (WC). Although anthropomet...

Background: Trabecular Bone Score (TBS) is a software-based tool for analysis of DXA images to assess bone microarchitecture in the lumbar region. Several studies have addressed its value in adult population, however, little research has been done in children in which may be useful for bone evaluation during growth.Objective: To evaluate bone density and TBS during childhood and its relationship to other variables such as bone age and height<p class=...

Background: Thyroid hormones are essential in the regulation of foetal and post-natal neurodevelopment. Despite early diagnosis and treatment of congenital hypothyroidism (CH) difficulties with language, hearing, memory and motor function persist for some children. However, comprehensive data about hearing, language and communication function in children with CH are not widely available.Objective and hypotheses: To evaluate hearing, language and communic...

Background: Hypopituitarism in children is a complex condition and its hierarchical evolution at different developmental windows is unpredictable. Magnetic resonance imaging (MRI) is helpful but largely a subjective assessment of anomalies of the hypothalamo-pituitary (H-P) structures. We aimed to test the utility of a quantitative measure of pituitary and stalk in predicting neuroendocrine phenotypes.Patients and Methods:</stron...