ESPE Abstracts

Background: Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with onset before 25 years. It is a heterogeneous disorder due to heterozygous monogenic mutations with an autosomal dominant transmission. It represents 2 to 5 percent of diabetes but is often underdiagnosed. We report three cases of MODY highlighting the features of different subtypes, two without associated abnormalities and one with renal disorder.Cases presentati...

Background: Cystic fibrosis related diabetes (CFRD) affects 40-50% of adults with Cystic Fibrosis (CF) and significantly decreases pulmonary function and affects life expectancy. Previous data highlighted that CFRD may be preventable or curable with the use of CFTR modulators, namely Ivakaftor. Kaftrio (Ivakaftor, tezacaftor and elexacaftor) has recently been licensed for use in CF. To our knowledge, its effect on glucose regulation in children and young peopl...

Background: Prolactinomas are rare in the prepubertal and adolescent age group. Therapeutic approaches are guided by experience from treating adults. Few series have been reported.Objective: Retrospective analysis of presenting features, treatment and outcomes in young patients presenting to a Tertiary Endocrine Service (total referral population ~3.5 million) managed jointly between Paediatric and Adult Endocrine and Neurosurgical services.<p class=...

Background: Children with GHD, in addition to short stature, may experience physiological symptoms as well as social and emotional problems. Assessing these impacts is critical for understanding the extent of GHD burden and assessing treatment benefit. Since many children initiating treatment are too young to self-report information, we must rely on adult reporters. However, according to FDA guidelines and established measure development principles, adult reporter information ...

Background: Virilization of young children after topical androgen use by their fathers through skin contact is well-known. The long-term consequences of such exposure at very young age are not well known.Objective and hypotheses: The aim is to report the occurrence of spermarche in a young boy and central precocious puberty in a young girl as late consequences of interpersonal transfer of testosterone gel.Method: Testosterone conta...

Objective: Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction, severe obesity and metabolic dysfunctions. The aim of this study was to describe endocrine and metabolic profiles in PWS children and young adults.We also investigated the differences in clinical outcomes according to genotype.Methods: Data of 64 children and adults with genetically verified PWS aged mo...

Introduction: Due to the widespread occurrence of both obesity and hypothyroidism, physicians need to be especially attentive to the possible thyroid dysfunction in obese patients. The relationship between thyroid hormones and obesity in combination with insulin resistance in young people is not fully understood.Materials and Methods: In order to study of thyroid status in young people with overweight and obesity in comb...

Background: Triptorelin, a gonadotropin-releasing hormone (GnRH) agonist, is available as 1-, 3-, and 6-month formulation for treatment of central precocious puberty (CPP). The triptorelin 22.5mg as 6-month formulation, which has recently been approved for use in CPP and offers greater convenience to children by reducing the injection frequency, but related research is very limited. The aim of this study was to study on the impact of 6 month formulation on pre...

Background: Triptorelin, a gonadotropin-releasing hormone (GnRH) agonist, is available as 1-, 3-, and 6-month formulation for treatment of central precocious puberty (CPP). The triptorelin 22.5mg as 6-month formulation, which has recently been approved for use in CPP and offers greater convenience to children by reducing the injection frequency, but related research is very limited. The aim of this study was to study on the impact of 6 month formulation on pre...

Background: Managing diabetes requires self-care, knowledge and support – especially when moving from pediatric to adult care. Finding ways to empower young people in transition and transfer is therefore important.Objective: To develop, test and evaluate a mHealth app for young people with diabetes type 1 transferring from pediatric to adult care.Method: Development: We developed an app-prototype based on rapid prototyping and...