hrp0086p2-p506 | Fat Metabolism and Obesity P2 | ESPE2016

Long Term Outcomes after Hospital Based, Life-Style Weight Loss Intervention During Childhood

Candler Toby , Wei Christina , Crowne Elizabeth , Shield Julian

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...

hrp0086p2-p653 | Growth P2 | ESPE2016

Improving the ‘Gold Standard’: The Insulin Tolerance Test Revisited

Daskas Nikolaos , Barton John , Burren Christine , Crowne Elizabeth

Background: The optimal method to assess GH status remains controversial. GH provocation tests are used and the Insulin Tolerance Test (ITT) is regarded as the ‘gold standard’ to diagnose GH deficiency (GHD). The original selection of 0, 20, 30, 60, 90 and 120 min time points is still used in many protocols worldwide, but variations have evolved.Objective and hypotheses: Comparing standard ITT (StdITT) to a revised (RevITT) protocol.<p clas...

hrp0089p1-p205 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A Paternally Inherited Familial Precocious Puberty Caused by a Novel MKRN3 Frameshift Variant

Odone Jessica , Nicholls Rachel , Yadlapalli Kumar , Crowne Elizabeth , Turnpenny Richard

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

hrp0092p1-123 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Does the Internet Provide Accurate and Valid Health Information Regarding Disorders of Sex Development?

Candler Toby , Hough Amy , Hamilton-Shield Antonia , Alderson Julie , Crowne Elizabeth

Background: The internet provides a multitude of health information. Understanding disorders/differences of sex development (DSD) can be difficult for families partly due to their complexity and relatively low prevalence. Consequently, families may use the internet to gain understanding of their child's condition, however the quality of this information has not been formally assessed.Aims: To assess the quality, vali...

hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

Taylor-Miller Tashunka , Barton John S , Burren Christine P , Woodward Mark , Alderson Julie , Crowne Elizabeth C

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

hrp0089p1-p225 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Living with Clitoromegaly: Aqualitative Interview Study of Parent’s Responses to Clitoromegaly in Congenital Adrenal Hyperplasia (CAH) with or Without Appearance Altering Surgery

Alderson Julie , Nicoll Nicky , Thornton Maia , Jones Julie , Skae Mars , Crowne Elizabeth

Controversy continues regarding surgery in infancy to address atypical genitalia in girls with CAH and other Disorders of Sex Development. There is no consensus to surgical approach. Interest in outcomes of the range of surgical and non-surgical interventions for genital diversity is growing. It is widely acknowledged that the multi-professional management to promote long term psychosocial adaptation of the child based partly on confident parenting is essential. We conducted a...

hrp0089p1-p226 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

‘You Can Put Ideas into Their Heads’: Parental Concerns about Children’s Participation in DSD Research

Alderson Julie , Nicoll Nicky , Thornton Maia , Jones Julie , Skae Mars , Crowne Elizabeth

It is acknowledged that children should collaborate in research about their health conditions, and DSD research has been criticised for promoting views of parents and health professionals. However parents are concerned about professionals talking to children about sensitive subjects including fertility and sexual activity. Children may have little experience of talking about their sex development. This makes direct research involving children with DSD particularly challenging....

hrp0089p2-p367 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Rare Form of Ovotesticular DSD: Diagnostic and Management Challenges

Narayan Kruthika , Alderson Julie , Nicoll Nicky , Nicholls Guy , Smithson Sarah , Crowne Elizabeth

We report mosaic triploidy 69XXY/46XX in ovotesticular DSD which poses significant diagnostic and management questions.Case: A baby born to non-consanguineous parents after a normal pregnancy, presented with atypical genitalia including significant clitoromegaly, a urethral opening in the anterior perineum and a normal vaginal opening. Bilateral masses were noted in the labio-scrotal folds. Pelvic ultrasound identified a normal uterus however the gonads ...

hrp0086p1-p203 | Diabetes P1 | ESPE2016

Diabetes Mellitus Caused by Bone Marrow Transplantation and Total Body Irradiation – Experience from a Regional Single Centre

Candler Toby , Wei Christina , Bradley Karin , Cox Rachel , Elson Ruth , Stevens Michael , Crowne Elizabeth

Background: Diabetes is a recognised long term sequelae in childhood cancer survivors following bone marrow transplantation and total body irradiation (BMT/TBI), due to a combination of insulin deficiency and resistance.Aim: To characterise presentation, treatment and clinical course of diabetes in childhood leukaemia survivors post BMT/TBI.Method: A single centre retrospective case note review of diabetes post BMT/TBI identified f...

hrp0082p1-d2-29 | Autoimmune Endocrine Disease | ESPE2014

Standard Population Screening for Diabetes Mellitus has Low Sensitivity in Identifying Diabetes in Adult Survivors of Childhood Bone Marrow Transplantation with Total Body Irradiation

Wei Christina , Unsworth Rebecca , Davis Nikki , Elson Ruth , Bradley Karin , Stevens Michael , Crowne Elizabeth

Background: Adult survivors of childhood leukaemia treated Bone marrow transplantation with total body irradiation (BMT/TBI) have an increased risk of diabetes mellitus (DM) disproportionate to their level of adiposity or other recognised risk factors. Post prandial hyperglycaemia due to reduced β-cell reserve after irradiation will be missed by fasting glucose (FG) levels. However, the UK National Institute of Clinical Excellence (NICE) screening guidelines recommend the...