ESPE Abstracts

The impact of DSD on future fertility is dependent on several factors. The key determinant of fertility potential is the status of gonadal development and function, and whether the individual has ovarian tissue with viable oocytes, or testicular tissue capable of producing functional sperm. Fertility risk will be primarily determined by the underlying diagnosis, modified by several additional factors. Whilst fertility preservation options are well established for many patient ...

Fertility is dependent on the normal development of germ cells, which is controlled by hormones and paracrine factors produced by the somatic cells within the gonads. However, exposure to cancer treatment during childhood can cause damage to the gonads leading to infertility in adulthood [1]. This presentation will explore how various cancer treatments affect gonadal function based on clinical evidence in patients [2], experimental models involving animals and studies utilisin...

Male reproductive disorders are common and there is evidence for increasing incidence over recent decades. These disorders may present at birth (hypospadias and cryptorchidism) or in adulthood (infertility, testicular cancer) and can arise as a result of underlying genetic abnormalities or following environmental (e.g. phthalates) and pharmaceutical (e.g. analgesics, chemotherapy) exposures that impact fetal, neonatal of prepubertal testicular development. Understanding the re...

Introduction: Pharmacological doses of glucocorticoids (GC) reduce inflammation and preserve muscle function in boys with Duchenne muscular dystrophy (DMD) but cause almost universal pubertal delay. Long term consequences of GC on androgen status in young men who have received testosterone for pubertal induction remain unknown.Objective: To determine the longer-term outcome after a 2-year pubertal induction regimen using...

Introduction: Mitchell Riley syndrome is a rare autosomal disorder, characterized by severe neonatal diabetes associated with hypoplastic or annular pancreas, duodenal or jejunal atresia, intestinal malrotation, gallbladder hypoplasia or agenesis, and cholestatic disease, less common features were reported such as severe neonatal anemia, hemochromatosis and biliary atresia.Mitchell-Riley syndrome is caused by a mutation in regulatory fac...

Background: Homozygous mutations in the transcription factor RFX6 are the cause of the Mitchell-Riley syndrome associating neonatal diabetes, pancreatic hypoplasia, gallbladder agenesis, duodenal atresia, and severe chronic diarrhea. Nine cases have been reported so far and the condition has a poor prognosis with five of nine patients died before the age of 6 months.Objective and hypotheses: To report on the clinical management and outcome of tw...

Background: Phthalate exposure results in endocrine disruption by inhibiting steroidogenesis, inducing focal dysgenesis and disrupting germ cell development in the rat fetal testis. Whilst phthalate exposure does not reduce testosterone production by the human fetal testis, its effects on germ cells and induction of dysgenetic areas in the developing human testis are less well described.Objective and Hypotheses: To determine the effects of phthalate expo...

Currently, the majority of patients with DSD do not have a molecular diagnosis. Although high throughput sequencing is having an impact on the clinical diagnosis of DSD the accurate interpretation genomic datasets of the identification of new gene mutations causing DSD is challenging. This is due to emerging evidence that DSD may be caused by mutations in many different genes and the prevalence of mutations in a single gene may be very low. As larger number of DSD patients are...

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Introduction: The BSPED Peer review programme was initiated in 2011 to provide a regular cycle of independent impartial professional assessment, against quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 We present here an evaluation of the outcomes from the first review cycle completed in 2017.Methods: We examined pre-review self-assessments (4–6 weeks before a site visit by the Peer Review team) and post-...