hrp0092p2-260 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Heterozygous CYP11A1 Mutation Associated with 46XY Disorder of Sexual Differentiation and Mild Adrenal Insufficiency

Bowen Philippa , Nicoll Nicky , Giri Dinesh

Background: CYP11A1 encodes the P450 side chain cleavage (scc) enzyme. This protein localises to the mitochondrial inner membrane and catalyses the conversion of cholesterol to pregnenolone which is the first and rate-limiting step in the synthesis of all steroid hormones. P450scc deficiency is a rare disorder that can present as adrenal insufficiency and varying degrees of disorder in sex development (DSD) in 46XY individuals. Typically, this disorde...

hrp0095p1-456 | Diabetes and Insulin | ESPE2022

Outmoded by Mody? A Case Report of HNF1A-Mody in Paediatric Stroke

Siese Thomas , Hickingbotham Hannah , Eggers Anne , Alins-Sahun Yolanda , Bowen Philippa , Hamilton-Shield Julian

Background: The association between HNF1A-MODY and vascular complications including stroke has previously been identified in adults but to date there have been no reported paediatric cases published.Description: We present the case of an Eritrean 13-year-old girl, who was admitted with an acute ischaemic stroke, on a background of Diabetes Mellitus (Presumed Type 1) diagnosed the previous year. Aside from being on multip...

hrp0095p1-547 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Project to improve paediatric post-neurosurgical fluid management and to reduce the risks associated with Diabetes Insipidus (DI), Syndrome of Inappropriate ADH (SIADH) and Cerebral Salt Wasting (CSW).

Miller-Molloy Felix , Saxena Shreya , Bowen Philippa , Fellows Greg , Crowne Liz

Background: Complex fluid balance problems are well established post-neurosurgery and traumatic brain injury (TBI). The triple-phase response requires fluid management strategies reactive to urine output as patients shift between DI and SIADH. Prevalence of CSW is controversial; but ensuring sodium homeostasis is central to safe fluid management. To improve clinical care for these complex patients an audit of existing institutional guidelines was undertaken. N...

hrp0089p1-p066 | Diabetes & Insulin P1 | ESPE2018

Complexities in the Management of New-Onset Diabetes after Transplantation (Nodat) in an Adolescent with Senior-Loken Syndrome

Bowen Philippa , Garde Alison , Adams Rebekah , Velleman Sophie , Inward Carol , Giri Dinesh

Background: New-Onset Diabetes after Transplant (NODAT) is a well characterized entity in adult population but less described in paediatric and adolescent population. The development of NODAT is associated with reduced graft function. The consensus for its management is largely available for adult population with a lack of specific guidelines applicable to the paediatric population.Case: A 16-year-old patient with an established renal failure and visual ...

hrp0089rfc2.4 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants

Bowen Philippa , Caswell Richard , Castle Bruce , Welch C Ross , Hilliard Tom , Smithson Sarah , Ellard Sian , Burren Christine

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...