ESPE Abstracts

Background: Diabetes mellitus is a heterogeneous disorder with multiple aetiologies. Monogenic diabetes accounts for an estimated 2–5% of cases and is often associated with impaired pancreas development and β-cell dysfunction. Heterozygous mutations in the transcription factor, HNF1B, result in multi-system disease including diabetes due to β-cell dysfunction, hepatic insulin resistance and pancreatic hypoplasia. However, the mechanisms that underlie development...

Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...

Background: A robust and meaningful transition pathway helps to prepare young people (YP) for the move from children and YP's services to the adult setting. This can prevent YP from being lost to follow-up and improve long-term health outcomes. Healthcare “transition” describes the process of preparing, planning and moving YP from paediatric to adult services. This should be a gradual process, to enable the YP, and those involved in their care...

Background: Secondary amenorrhoea occurs in approximately 8% of adolescent females. Ovarian and adrenal tumours are rare causes of secondary amenorrhoea. Ovarian Sertoli-Leydig cell tumours (SLCT) are rare sex-cord stromal tumours of the ovary, accounting for <0.5% of all primary ovarian neoplasms. SLCTs affect all age groups, 75% detected in second and third decade of life (mean age 25 years) and <10% detected following menopause. Testicular-like tumour...