hrp0089p3-p007 | Adrenals and HPA Axis P3 | ESPE2018

Refractory Cyclical Cushing’s Disease - a Case of Multiple Pituitary Micro-adenomas in a Three Year Old Girl after 8 Years Follow up

Robinson Elizabeth , Poonam Poonam Dharmaraj , Heyningen Carl van

Case presentation: A 3 years 10 months old British white girl presented with rapid weight gain of 11 kg over 4 months, hirsutism, central obesity, moon face, buffalo hump and hypertension.Investigations: Plasma cortisol, IGF-1 and ACTH levels were elevated. The 9am plasma cortisol was 1035 nmol/l (140–500) with simultaneous plasma ACTH 13 pmol/l (1–11). Plasma cortisol and ACTH levels responded to both dexamethasone suppression and CRH stimulat...

hrp0089p3-p062 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Idiopathic Juvenile Osteoporosis: Common Symptoms in an Uncommon Condition

Uppal Saurabh , Senniappan Senthil , Dharmaraj Poonam , Hughes David

Introduction: Osteoporosis in children and young people can be primary due to Osteogenesis Imperfecta (OI) or secondary to chronic disease. We report 2 patients with Idiopathic Juvenile Osteoporosis (IJO), a rare primary osteoporotic disorder.Case 1: A 12 year old boy presented with 12 months of lower back pain and stiffness, against a background of chronic pain in knees, wrist and ankles. There was no history of fractures or systemic disease. Examinatio...

hrp0086p1-p120 | Bone & Mineral Metabolism P1 | ESPE2016

Practicalities of Bisphosphonate use in UK Paediatric Tertiary Centres

Price Victoria , Ramakrishnan Renuka , Burren Christine , Dharmaraj Poonam

Background: On reviewing practical aspects of intravenous bisphosphonate use in our tertiary Children’s Hospital, we noted disparity between departments who prescribed these drugs. This included issues pertinent to patient safety and hospital management, e.g. the need for overnight admission for the first infusion, blood tests and monitoring for adverse events (AEs). We therefore decided to survey the practices of other tertiary Paediatric Endocrinology Centres.<p cla...

hrp0086p2-p187 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Is NOTCH-Sonic Hedgehog Signalling Pathway the Missing Link Between Hajdu-Cheney Syndrome and Syringomyelia?

Patil Prashant , Dharmaraj Poonam , Fryer Alan , Didi Mohammed

Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. Syringomyelia has been reported in 5 of 75 reported cases of HCS worldwide. The mechanism for t...

hrp0082p2-d1-287 | Bone | ESPE2014

Case report: A Novel mutation in the Calcium Sensing Receptor in a Welsh Family with Hypercalcaemia

Soni Astha , Frerichs Carley , Ramakrishnan Renuka , Dharmaraj Poonam

Background: Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder due to inactivating mutations in the calcium sensing receptor (CASR). FHH is generally benign with asymptomatic hypercalcaemia, low urinary calcium excretion and normal or mildly elevated PTH.Objective and hypotheses: We report a novel mutation in CASR in a family with three generations affected with hypercalcaemia.Method: A 15 -month-old boy ...

hrp0082p3-d2-682 | Bone (1) | ESPE2014

Cautionary Tales in the Management of Transient Neonatal Hypoparathyroidism

Mulvey Ian Robert , Frerichs Carley , Dharmaraj Poonam , Ramakrishnan Renuka

Background: Transient hypoparathyroidism is a recognised cause of hypocalcaemia during the neonatal period and difficult to differentiate from permanent forms.Objective and hypotheses: We present the challenges of monitoring and managing neonates with hypocalcaemia and inappropriately low PTH.Method: Cases 1 and 2 had congenital heart disease (CHD) but were FISH negative for 22q11 deletion. Both were treated with supplemental doses...

hrp0084p2-233 | Bone | ESPE2015

Teriparatide (rhPTH) Therapy in a Boy with Hypoparathyroidism-Deafness-Renal Dysplasia Syndrome due to GATA3 Mutation

Giri Dinesh , Senniappan Senthil , Dharmaraj Poonam , Hatchard Lynne , Ramakrishnan Renuka

Background: Hypoparathyroidism is usually treated with calcium and vitamin D analogues. Replacing the deficient hormone using recombinant human parathormone Teriparatide (rhPTH) has not yet become a common practice. We report a 3-year-old boy with hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome who has been successfully treated with Teriparatide (1–34 rhPTH), who to our knowledge is only the second child reported in the literature to be successfully treated wit...

hrp0084p3-671 | Bone | ESPE2015

How are we Using Bisphosphonates in Children with Secondary Osteoporosis in a Tertiary Centre?

Price Victoria , Hatchard Lynne , Ramakrishnan Renuka , Senniappan Senthil , Dharmaraj Poonam

Background: Bisphosphonates inhibit osteoclast activity, decreasing bone resorption and increasing bone mineral density (BMD). A Cochrane review in 2007 concluded further evidence is required for use of bisphosphonates in children with secondary osteoporosis.Objective and hypotheses: We appraised our current practice of bisphosphonate use in children with secondary osteoporosis (as defined by the 2013 International Society for Clinical Densitometry Posit...

hrp0095p1-10 | Adrenals and HPA Axis | ESPE2022

Outcomes of the low dose short Synacthen test in infancy

Park Julie , Jones Lily , Dharmaraj Poonam , Senniappan Senthil , Morgan Colin , Hawcutt Daniel , Blair Joanne

Background: The hypothalamic-pituitary-adrenal (HPA) axis may be suppressed at birth. In most infants this is tolerated well. HPA testing in infancy often generates ‘abnormal’ results although abnormalities of the HPA may not be identified and cortisol measurements often ‘normalise’ over time.[1]Aim: To contribute to the evidence base on neonatal HPA activity by reporting outcomes of infants age &...

hrp0092p2-190 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Hormone Therapy in Patients with Noonan Syndrome

Apperley Louise , Ramakrishnan Renuka , Dharmaraj Poonam , Das Urmi , Didi Mohammed , Blair Jo , Senniappan Senthil

Introduction: Noonan Syndrome (NS) is an autosomal dominant condition that affects 1 in 1000 to 2500 live births and is associated with short stature. Studies have shown that height velocity (HV) improved significantly with the use of growth hormone (GH) in the first year of treatment and sustained for the second year. We aimed to look at the effects of GH therapy in our cohort of patients with NS.Method: In this retrosp...