hrp0089p3-p189 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Neonatal Hyper- and Hypoglycaemia; Widening the Clinical Phenotype of Transient Neonatal Diabetes Mellitus due to 6q24 Methylation Defects

Taylor-Miller Tashunka , O'Connell Michele , Sabin Matthew

6q24 methylation defects are the most common cause of Transient Neonatal Diabetes Mellitus (TNDM). The clinical picture is one of impaired insulin secretion, small for gestational age and diabetes mellitus aged <6 months. This case illustrates the fluctuation between both hyper- and hypoglycaemia that can been seen in 6q24 methylation defects. A term, small for gestational age baby boy was noted to have hypoglycaemia (BSL 1.8 mmol/l) at 1.5 h of life which resolved with or...

hrp0089p3-p393 | Thyroid P3 | ESPE2018

An Assay Led Astray: A Curious Case of Biotin-Induced Hyperthyroidism

Taylor-Miller Tashunka , Alexander Ashely , Yen Tina , O'Connell Michele

The third child to Burmese parents is born at term in good condition in a suburban hospital. The baby was breast fed from birth and had a normal physical examination without dysmorphic features or palpable liver edge. The parents have had two previous live male births at term, that developed severe jaundice and seizure in the first 24 hours of life; both passed away on day 3 of life. Due to concerns of possible metabolic condition, the baby was commenced on prophylactic photot...

hrp0092p2-152 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Congenital Hyperinsulinism due to Compound Heterozygous Mutations in ABCC8 Fully Responsive to Diazoxide Therapy

Taylor-Miller Tashunka , Deshpande Ruma , Burren Christine P , Munyard Paul , Giri Dinesh

Background: Congenital Hyperinsulinism (CHI), a condition characterised by dysregulation of insulin secretion from the pancreatic beta cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycaemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI. Biallelic inactivating mutations (homozygous or compound heterozygous) in ABCC8 and KCNJ11 are know...

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...

hrp0089p2-p054 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Effect of Pubertal Inductionn Bone Mass Accrual, in Adolescent Boys with Duchenne Muscular Dystrophy

Zacharin Margaret , Lee Samantha , Taylor Miller Tashunka , Simm Peter , Munns Craig

Background: DMD is an X-linked recessive disorder, due to mutations of the DMD gene on Xp21, encoding dystrophin, characterized by high cytokines and progressive muscle degeneration, with loss of ambulation, increasing immobility and complicated by late cardio-respiratory failure. Use of high dose corticosteroid aims to prolong mobility, delay/reduce complications and to increase lifespan but adverse effects on bone health include bone loss and increased vertebral and long bon...

hrp0095rfc4.5 | Fat, Metabolism and Obesity | ESPE2022

Cerebral perfusion following childhood-onset craniopharyngioma and the relationship with metabolic rate

Elsworth Rebecca L. , Naeem Nimra , Hawton Katherine , Narayan Kruthika , Elson Ruth , Taylor-Miller Tashunka , Lithander Fiona E. , Hamilton-Shield Julian P. , Crowne Elizabeth C. , Hinton Elanor C.

Background: Craniopharyngioma is a non-malignant embryonic tumour in the pituitary-hypothalamic area, associated with hypothalamic obesity. Dysfunctional parasympathetic nervous system activity has been proposed as one mechanism underlying alterations in energy metabolism. Arterial spin labelling (ASL) is a non-invasive MRI technique that quantifies brain tissue perfusion as a proxy for functional activity. Here, we measure cerebral perfusion in patients with ...

hrp0095p1-266 | Fat, Metabolism and Obesity | ESPE2022

Changes in hypothalamic functional connectivity in the brain following childhood-onset craniopharyngioma

Hinton Elanor , Elsworth Rebecca , Bedford Holly , Hawton Katherine , Narayan Kruthika , Naeem Nimra , Elson Ruth , Taylor-Miller Tashunka , Lithander Fiona , Hamilton-Shield Julian , Crowne Elizabeth

Background: Craniopharyngioma is a non-malignant, embryological brain tumour in the sellar and parasellar region. Hypothalamic damage is common and accompanied by development of obesity in at least 50% of cases. Mechanisms underlying hypothalamic obesity in craniopharyngioma patients however remain unclear and treatment options are invasive and limited. This feasibility study included a novel application of functional neuroimaging, an established method in obe...

hrp0094p1-111 | Fat, Metabolism and Obesity B | ESPE2021

Insulin resistance following childhood craniopharyngioma may influence neural response to food cues in food reward-related brain regions: a preliminary investigation.

Hinton Elanor , Narayan Kruthika , Elsworth Rebecca , Lithander Fiona , Naeem Nimra , Elson Ruth , Taylor-Miller Tashunka , Wilson Aileen , Hamilton-Shield Julian , Crowne Elizabeth ,

Background: Craniopharyngioma is a rare, suprasellar tumour, which, together with associated surgery or radiotherapy, results in damage to the hypothalamus and severe obesity in approximately 50% of cases. The multi-factorial mechanisms underlying the development of obesity in craniopharyngioma are not well understood. Hypothalamic damage in craniopharyngioma has been associated with dysfunctional parasympathetic nervous system activity leading to altered gluc...