ESPE Abstracts

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous...

Background: The BoneXpert method is an automated determination of bone age, which employs deformable models of each bone to locate the bones, and extracts the component of the bone appearance related to maturity in a holistic, statistical manner. The BoneXpert has been validated on normal children and children with diagnoses typical of pediatric endocrinology. Multiple clinical studies suggested that BoneXpert has adequate accuracy, precision, and efficiency to be clinically u...

Introduction: Establishing a clear diagnosis in patients with short stature can be challenging. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. We describe a patient with severe short stature with additional features on examination suggestive of KBG syndrome. A subsequent skeletal survey revealed radiological features suggestive of the diagnosis. In a...

Background and Aims: Children with Down's syndrome (DS) are at increased risk of autoimmune conditions including type 1 diabetes (T1D), coeliac and thyroid disease. We previously examined the clinical and immunogenetic characteristics of these conditions in children with DS. An earlier age-of-onset of diabetes was observed compared with children with T1D from the general population despite having decreased frequencies of the established genetic susceptibil...

Background: The MC4R pathway is the principal regulator of mammalian energy balance through its modulation of energy intake and energy expenditure. Variants in genes associated with the MC4R pathway can result in rare genetic diseases of obesity. Clinical data in patients with genetic defects in the MC4R pathway indicate that setmelanotide, an MC4R agonist, can effectively reduce weight and hunger in scientifically rationalized obese subpopulations in which MC...

Background: We previously reported in a national cohort, that adherence to subcutaneous Growth Hormone (GH) treatment in children is better with jet delivery compared with needle devices (Spoudeas et al. Patient Prefer Adherence. 2014;8:1255–1263). We also separately reported that adherent children showed significantly improved height outcomes at one year.Objective and hypotheses: To examine the potential influence of adherence and demograp...

Background: The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of energy balance. Variants in a number of genes within this pathway have well-established associations with severe obesity. However, the overall frequency of rare variants in these genes has not been assessed systematically in a clinically relevant population, and it is unknown whether variant frequency differs depending on the age of ascertainment. Genetic testing can impro...

Introduction: The hypothalamic melanocortin-4 receptor (MC4R) pathway plays a vital role in energy balance. Genetic defects in the MC4R pathway may result in severe early onset obesity.Objective: The TEMPO registry (NCT03479437) aims to identify and enroll approximately 1000 participants with rare genetic forms of obesity that are potentially related to key genes, upstream or downstream, of the MC4R. In addition, the TEMPO registry will evaluate the burd...