ESPE Abstracts

Background: Achondroplasia is a skeletal dysplasia being the most common cause of rhizomelic dwarfism.Case presentation: We present a 10 years old boy who was first diagnosed prenatally. He had a mutation c1138G>A in the gene FGFR3 in a heterozygotic constellation. His IGF1 levels and IGFBP3 were normal. Two stimulation tests for GH were performed with normal levels of the hormone. His psychomotor development was adequate for his age except for speec...

Background: Poor adherence to recombinant human growth hormone (r-hGH) treatment presents a significant barrier to achieving optimal growth outcomes. It is important to identify and address the treatment adherence-related needs of children prescribed r-hGH, and develop new approaches to improve adherence. In this study, we aimed to measure the impact of the TuiTek patient support programme, a multi-component personalised service intervention, on caregivers&#14...

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

Background: Bicuspid aortic valve and aortic dilation are common in Turner Syndrome (TS). Aortic dissection is a well recognised cause of cardiovascular death, with an estimated incidence of 1.4 per 100 patients with TS. The biophysical properties of the aorta, including pulse wave velocity (PWV), characteristic impedance (Zc), input impedance (Zi), elastic pressure-strain modulus (Ep), and beta index (β-index), have not been well studied in TS. PWV is considered the most...

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: 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: Gonadal or sexual dysfunctions are common and important complications of childhood cancer survivors. But few studies have been conducted on these areas, and if any, they are only about gonadal dysfunctions. Semen quality or sexual functions were rarely investigated.Objective and hypotheses: We purposed to evaluate prevalence of gonadal failure, semen abnormality, and sexual dysfunction of adolescent/young adult childhood cancer survivors. Ris...

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...