Endocrine Abstracts

Introduction: The early management of atypical genitalia has been highlighted as being of critical importance by the UK-DSD guidance in 2011.Objectives: To estimate the incidence of atypical genitalia requiring early specialist input in neonates and its clinical presentation and management.Method: Prospective audit through the Scottish DSD network and the Scottish Paediatric Endocrine Group, between June 2013 and June 2014. Monthly...

Effective research into understanding the aetiology of disorders of sex development (DSDs), as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such collaboration involving clinical centres and clinical and genetic experts. At the heart of the EuroDSD collaboration is a DSD register that supports the sharing of DSD ...

Background: The DHT RIA is often used in the assessment of children with suspected DSD. Affected cases have a history of consanguinity in ≤50% and many may not have a non-Caucasian background (Maimoun et al., JCEM, 2011). We aimed to assess the clinical utility of the DHT RIA in identifying cases of 5-ARD.Methods: All DHT requests in a 5 year period in a major UK tertiary paediatric centre were identified and case notes were retrieved and se...

Background: The Scottish Genital Anomaly Network(SGAN) is a national managed clinical network that provides care to patients with a suspected disorder of sex development(DSD). Factors that influence the decision to perform a karyotype in suspected DSD are unclear.Aim: To explore the SGAN register to study the factors that influence the decision to perform a karyotype. Variables examined included centre of presentation, examination findings and associated...

Background: By providing a non-invasive, functional insight into brain chemistry, MRS has the potential to provide objective longitudinal data on mammalian brain development.Aims: To assess the sexual dimorphism in rodent brain chemistry and development using in vivo MRS.Methods: 26 (19 males) Sprague–Dawley rats were scanned at 6 weeks and 12 male rats at 10 weeks using a 7T MRI scanner. Testosterone concentrations w...

Background: The Scottish Genital Anomaly Network (SGAN) is a national managed clinical network for patients with a suspected disorder of sex development (DSD). The SGAN register contains data on patients with DSD in Scotland. Factors that influence the decision to perform a karyotype in these patients are unclear.Objectives: To explore the SGAN register to study the factors that influence the decision to perform a karyotype.Methods...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis.Objective & HypothesisTo investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Population / MethodsTen ratios were calculated on steroid metabolite data analysed b...

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...

Introduction: Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell tumours depending on the underlying diagnosis. To date however knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The I-DSD Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyotype who were over the ...