hrp0095p1-22 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Resolution of severe constipation following a switch from calcium carbonate to recombinant human PTH therapy: A case report

Apperley Louise , Jarvis C , Ramakrishnan Renuka

Hypoparathyroidism is treated with oral calcium carbonate and vitamin D analogues to increase serum calcium levels. Recombinant human parathyroid hormone (rhPTH) therapy can be considered in patients with poorly controlled hypocalcaemia or side effects to conventional treatment. Constipation, a known side effect of calcium carbonate, is often easily managed with simple laxatives. We describe resolution of severe constipation by changing conventional treatment to rhPTH. A femal...

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-p850 | Syndromes: Mechanisms and Management P2 | ESPE2016

An Unusual Cause of Short Stature in a Phenotypic Male with Type I Diabetes Mellitus due to an Unexpected Deletion of the Y Chromosome

Giri Dinesh , Ghatak Atrayee , Landes Caren , Ramakrishnan Renuka

Background: Short stature homeobox (SHOX) gene, located on the pseudoautosomal region of the sex chromosome plays an important role in the development of skeleton and its mutations/deletions can cause skeletal dysplasias.Objective and hypotheses: We report a male, with Type I Diabetes (T1DM) with Y chromosome deletion and short stature due to the concurrent loss of SHOX.Method: A 15-year-old boy with T1DM for 6 years was referred f...

hrp0082p1-d3-189 | Pituitary | ESPE2014

An Unusual Case of Hereditary Nephrogenic Diabetes Insipidus Affecting Mother and Daughter

Giri Dinesh , Jones Caroline , Ellis Ian , Ramakrishnan Renuka

Background: Hereditary Nephrogenic Diabetes Insipidus (HNDI) is an uncommon disorder due to a resistance to anti diuretic hormone (ADH) leading to a reduced urinary concentrating ability. The X-linked form is fully expressed in hemizygous male patients, but diabetes insipidus may also present in heterozygous females where it must be distinguished from autosomal and other secondary causes.Objective and hypotheses: We report a mother and daughter with HNDI...

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...

hrp0084p3-930 | GH &amp; IGF | ESPE2015

IGF1 Deficiency: An Important Differential Diagnosis in Severe Growth Failure and Its Excellent Response to rhIGF1 Replacement Therapy

Giri Dinesh , Storr Helen , Savage Martin O , Ramakrishnan Renuka

Background: IGF1 is the key effector peptide in the control of normal growth. IGF1 deficiency in the presence of normal GH is associated with growth failure. This may be caused by primary defects in the GH-IGF1 axis or by conditions such as malnutrition or chronic inflammation. Severe primary IGF1 deficiency (height <−3 S.D., serum IGF1 <2.5th centile, GH normal) is an European Medicines Agency (EMA) licensed indication for rhIGF1 therapy. We repor...

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...