Martina E Rodie

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CONTEXT The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases. OBJECTIVE To report the range of associated conditions identified in the international DSD (I-DSD) Registry. DESIGN, SETTING, AND PATIENTS(More)
Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and confirmed disorders of sex development. The paediatric endocrinologist who is a vital and often the central member of this(More)
Disorders of sex development (DSD) are a rare group of conditions which require further research. Effective research into understanding the aetiology, 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(More)
REFERENCES 1. Hannam S, McDonnell M, Rennie JM. Investigation of prolonged neonatal jaundice. Acta Paediatr 2000;89:694–7. 2. National Institute for Health and Clinical Excellence. Neonatal Jaundice. Clinical Guideline 98, 2010. http://www.nice.org.uk/CG98 (accessed 1 September 2010). 3. Unal S, Koc E, Aktas A, et al. Prolonged jaundice in newborns: what is(More)
BACKGROUND AND OBJECTIVE It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied. METHODS Cases of disorders of sex development(More)
BACKGROUND Although a karyotype represents the first objective evidence of investigating a case of suspected disorder of sex development (DSD), the factors that influence the clinician's decision to initiate investigations are unclear. METHODS Cases of suspected DSD in Scotland were identified through the Scottish Genital Anomaly Network (SGAN) Register.(More)
Polymorphonuclear neutrophils (PMNs) are capable of synthesizing various pro-inflammatory cytokines which may indirectly influence specific immune responses. PMNs may also have the capacity to present foreign peptides to helper T cells (Th cells). In support of this hypothesis, recent studies have shown that neutrophils, when activated by the correct(More)
BACKGROUND In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. OBJECTIVE To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR(More)
BACKGROUND Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorders of steroid hormone synthesis. OBJECTIVES To investigate the range of ratios and their predictive value in children with suspected disorders of steroid synthesis. DESIGN AND METHODS Twelve ratios were calculated on steroid metabolite data analysed by gas(More)
BACKGROUND With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. METHODS The design and(More)