ESPE Abstracts

Background: IGSF1 deficiency has been recently found to be a novel cause of x-linked central hypothyroidism, macroorchidism and delayed puberty.Case presentation: We present a family, in which the proband was diagnosed with congenital central hypothyroidism by neonatal screening and treated accordingly. Further pituitary examination revealed an unmeasurable prolactin level, normal IGF1, normal cortisol and no abnormalities of the pituitary on MRI. The pa...

Background: The integration of technology in health care has led to improved medical care and better compliance, especially in chronic diseases such as diabetes. Despite these advances, compliance has always been an issue in caring for adolescents with diabetes. Text messaging has become a popular way to communicate with peers especially for teens. Multiple studies support the theory that texting is an easy and affordable resource that health care providers can utilise to educ...

Background: Those affected by adrenal insufficiency (AI) (including congenital adrenal hyperplasia (CAH)) are at risk of serious illness and growth problems, and as a result they require life-long daily hormone replacement therapy. Little is known about the psychosocial impact that living with and treating AI on a daily basis can have on both children and their parents.Objective and hypotheses: The aim of the study was to explore the psychosocial impact ...

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused...

Background: Beta-tumour cells (βTC) are a group of highly differentiated beta cell lines derived by expression of the SV40 T antigen (Tag) oncoprotein under control of the insulin promoter in transgenic mice. βTC-6 cells exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate insulin secretion.The CRISPR/Cas9 genome-editing platform is a versatile and pow...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

While it has been established that within the first 4 months of life there is an absence of the circadian rhythm guiding cortisol secretion, it remains unclear if a random serum cortisol (rSC) level is useful in diagnosing neonatal primary adrenal insufficiency (PAI). The objective of this study is to determine the utility of rSC in determining PAI within the first 4 months of life. This is a retrospective chart review of subjects who had rSC collection and high dose cosyntrop...

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

Background: The internet provides a multitude of health information. Understanding disorders/differences of sex development (DSD) can be difficult for families partly due to their complexity and relatively low prevalence. Consequently, families may use the internet to gain understanding of their child's condition, however the quality of this information has not been formally assessed.Aims: To assess the quality, vali...

Pituitary adenomas are usually benign tumours arising from the hormone-secreting cells of the anterior pituitary gland. These adenomas can result in excess hormone secretion and the development of characteristic syndromes, such as Cushing’s disease, acromegaly and hyperprolactinaemia, and/or mass effects on surrounding vital structures causing for example visual disturbances and pituitary hormone deficiencies. In children and young people under 19 years (CYP), the managem...