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 ...

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...

hrp0095p1-465 | Fat, Metabolism and Obesity | ESPE2022

Use of liraglutide for treatment of childhood obesity: early experiences from a tier 3 paediatric obesity service

Hawton Katherine , Wenn Melanie , Hamilton-Shield Julian , Giri Dinesh

Background: Liraglutide is a glucagon-like peptide analogue which was approved for use in children and young people as an option for managing obesity in December 20201. It is to be used in tier 3 services alongside a reduced-calorie diet and increased physical activity in children more than 12 years if they have a BMI SDS age-equivalent more than 30kg/m2 for adults. We describe our initial experiences of using liraglutide in a tier 3 paed...

hrp0095p2-210 | Multisystem Endocrine Disorders | ESPE2022

Glucose dysregulation and Diabetes mellitus in ROHHAD syndrome - possibly centrally driven?

Hawton Katherine , Candler Toby , Hamilton-Shield Julian , Giri Dinesh

Background: Rapid-onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation (ROHHAD) is a rare syndrome with a high risk of morbidity and mortality. Blood glucose dysregulation is not widely recognised as a feature of ROHHAD and the mechanism is not well understood. We describe glucose dysregulation in two children with ROHHAD syndrome.Case 1: The patient presented at 6 years with rapid w...

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...

hrp0084p1-105 | Perinatal | ESPE2015

Fluoxetine Induced Hypoglycaemia in a Patient with Congenital Hyperinsulinism on Lanreotide Therapy

Giri Dinesh , Yung Zoe , Stirrup Kelly , Didi Mo , Seniappan Senthil

Background: Lanreotide is a long acting somatostatin analogue that has been used successfully in the treatment of congenital hyperinsulinism (CHI) in patients who are unresponsive or intolerant to diazoxide. Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent CHI on Lanreotide therapy, who developed recurrent hypoglycaemia following Fluoxetine therapy.Ca...

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...