hrp0082p3-d3-646 | Autoimmune Endocrine Disease | ESPE2014

Hypothyroidism in Anorexia Nervosa due to Primary Autoimmune Pathogenesis

Chidanandaswamy Rajesh , Skae Mars

Background: Anorexia nervosa (AN) is associated with a number of endocrine abnormalities including a low serum free thyroxine level. Hypothyroidism in AN is a recognised condition which is associated with a low normal free thyroxine and triiodothyronine levels (FT4, FT3) with an elevated reverse T3 (rT3). Serum TSH levels are normal or slightly reduced, suggesting a hypothalamic origin to the suppressed thyroid function which is norm...

hrp0086p1-p126 | Bone & Mineral Metabolism P1 | ESPE2016

Impact of Intercurrent Illness on Calcium Homeostasis and Hypoparathyroidism Management

Chinoy Amish , Skae Mars , Babiker Amir , Mughal Zulf , Padidela Raja

Background: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Objective/hypotheses/method/results: Case series Case 1: Two-month...

hrp0095p1-570 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Does your daughter have a larger than usual clitoris”? Parental perception of CAH management outcome

Chikani Mg o , Alderson Julie , Skae Mars , Crowne Liz

Background: Following the intense debates and controversies regarding all forms of genital surgeries on minors, particularly the appropriateness of clitoral surgeries, assessing all outcomes of clitoromegaly management is imperative in directing future management.Methods: As part of a broader qualitative interview study involving 25 parents of patients with confirmed cases of clitoromegaly due to congenital adrenal hyper...

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....

hrp0095rfc6.6 | Sex Development and Gonads | ESPE2022

Differently Normal: Making sense of Adolescent Perspectives of Early Childhood Experiences associated with Congenital Adrenal Hyperplasia (CAH)

Siese Thomas , Alderson Julie , Hickingbotham Hannah , Hawton Katherine , Skae Mars , Crowne Elizabeth

Background: There is limited reporting of the impact of genital difference on early childhood experience, although the young person’s viewpoint should be at the core of patient centred clinical decision making. The experience of girls living with Congenital Adrenal Hyperplasia (CAH) may differ according to context, being influenced by interactions within the family, with specialist teams as well as prevailing social values. Clearly there is a need to inv...

hrp0086rfc10.6 | Perinatal Endocrinology | ESPE2016

Increased Islet Cell Neogenesis and Endocrine Cell Differentiation in Congenital Hyperinsulinism in Infancy

Hardwick Elise , Han Bing , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with inappropriate expression of foetal-like transcription factors and enhanced cell proliferation.Hypothesis: As the CHI pancreas bears similarities to the foetal pancreas, we hypo...

hrp0086p1-p551 | Perinatal Endocrinology P1 | ESPE2016

Enhanced Mitochondrial Densities Associate with the Pathobiology of β-Cells in Congenital Hyperinsulinism in Infancy

Han Bing , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Kadler Karl , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital hyperinsulinism in infancy (CHI) is associated with inappropriate insulin release from β-cells. This is causally linked to defects in the ion channel genes ABCC8 and KCNJ11 regulating insulin, but little is known about the metabolic support for sustained insulin exocytosis.Objective and hypotheses: We hypothesised that inappropriate insulin release in CHI would require sustained ATP generation by enhanced mit...

hrp0086p1-p555 | Perinatal Endocrinology P1 | ESPE2016

Islet of Langerhans in Congenital Hyperinsulinism in Infancy are Disrupted and with Decreased Expression of Collagen (IV) α1 Chain in Basement Membranes

Mal Walaa , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Rigby Lindsey , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. Although CHI arises from mutations in KATP channels which lead to inappropriate insulin secretion, CHI it also is associated with marked changes in islet organization.Aims and objectives: Our aim was to investigate the structure and composition of the islet capsule in CHI and age-matched control tissue.Me...

hrp0084fc9.1 | Beta cell disorders | ESPE2015

Islet δ-Cells Contribute to the Pathobiology of Atypical Congenital Hyperinsulinism

Han Bing , Bourke Siobahn , Mohammad Zainab , Craigie Ross , Skae Mars , Cheeseman Edmund , Banerjee Indi , Cosgrove Karen , Dunne Mark

Background: Atypical forms of congenital hyperinsulinism in infancy (CHI-A) represent a novel subgroup of patients who present later in the neonatal period; have poor responses to medical intervention; an unremarkable histopathology and no known genetic cause of disease.Objective and hypotheses: To compare the expression profiles of insulin and somatostatin in islets from patients with CHI-A, diffuse CHI (CHI-D) and age-matched control tissue.<p clas...