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...

hrp0089p2-p385 | Thyroid P2 | ESPE2018

Thyroid Hormone Receptor β (THRB) Mutation: Two New Cases of Heterozygous Mutation with Significant Family History

Blackburn James , Senniappan Senthil , Giri Dinesh

Introduction: Resistance to thyroid hormone (RTH) is a relatively uncommon disorder that is usually associated with mutations in thyroid hormone receptor (THR) beta, although rarely THR alpha mutations have been described. RTH beta (RTHB) is often inherited in an autosomal dominant pattern. We describe two cases of RTHB to highlight the significant variations in both clinical presentation and family history.Case 1: A 2 year old patient ...

hrp0086p2-p333 | Diabetes P2 | ESPE2016

Association Between Socioeconomic Status and Glycemic Control in Type 1 Diabetes Mellitus

Patil Prashant , Giri Dinesh , Khadilkar Vaman , Seniappan Senthil

Background: Socioeconomic status (SES) is inversely associated with many chronic diseases, with disadvantaged individuals faring worse than the others. In diabetes mellitus, however, studies evaluating the relationship between SES and the glycaemic control have shown variable results.Objective and hypotheses: To understand the effect of SES on the long term glycemic control in children with type 1 diaebtes mellitus (T1DM) at a tertiary centre in India.</...

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...

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...

hrp0084p2-494 | Hypo | ESPE2015

Congenital Hyperinsulinism in Association with Poland Syndrome and Chromosome 10p11-p13 Duplication

Giri Dinesh , Hart Rachel , Weerasinghe Kamal , Didi Mo , Senniappan Senthil

Background: Poland syndrome (PS) is characterized by unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Congenital Hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. We report a baby with Poland’s syndrome and ...

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...

hrp0084p3-1114 | Pituitary | ESPE2015

Management of Risperidone Induced Hyperprolactinemia in an Adolescent with Severe Autism

Giri Dinesh , Sanam Tayyaba , Oppenheim A , Senniappan Senthil , Das Urmi

Background: Risperidone is a second-generation antipsychotic medication, which inhibits dopamine and serotonin receptors. Around half of children and adolescents treated with risperidone develop hyperprolactinemia. Chronic hyperprolactinemia can lead to osteoporosis, cardiovascular disease and delayed growth and puberty. There is no available guidance on management of antipsychotic induced hyperprolactinemia in children. We describe the challenges in the management of a teenag...

hrp0095p1-44 | Diabetes and Insulin | ESPE2022

Characterisation of Type 2 Diabetes mellitus in children and young people across 2 large tertiary Paediatric Diabetes centres

Chatterjee Sumana , Baioumi Alaa , Pryce Rebekah , Williams Georgina , Giri Dinesh

Introduction: The prevalence of paediatric Type 2 diabetes (T2DM) is increasing, contributed by rising incidence of obesity worldwide. Paediatric T2DM is a progressive disease with increased risk of complications and morbidities. Despite recent research, many aspects such as its pathophysiology and optimal management remain unknown.Aim: To characterise the cohort of T2DM patients across 2 large tertiary paediatric diabet...