ESPE Abstracts

Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical defect with endocrine abnormalities. The triad of this syndrome comprises thin or interrupted pituitary stalk, absent or ectopic posterior lobe, and hypoplastic or aplastic anterior pituitary lobe. We diagnosed a 16-year-old female patient with combined pituitary hormone deficiency (CPHD) due to PSIS. The patient complained of chronic fatigue and was Tanner stage 1 with no signs of puberty. ...

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

Background: There is a link between congenital hypothyroidism (CH) and neurodevelopmental abnormalities, but no longitudinal studies have yet identified reliable quantifiable measures.Purpose: To evaluate associations between CH and abnormalities in neurodevelopment and growth, and identify the timing of these abnormalities and the best time for intervention.Methods: Data from the ...

Background: Growth hormone (GH) treatment requires long-term self-management and optimized recombinant-human growth hormone (r-hGH) prescription. Patient support programs (PSPs) are vital in educating, providing personalised support to caregivers and enhancing patient care to achieve optimal growth outcomes. Nurse-led PSP calls using behavior change techniques (BCTs) and motivational interviewing principles have demonstrated a meaningful behavior change across...