hrp0095p1-590 | Thyroid | ESPE2022

Immunoglobulin Superfamily 1 (IGSF1) Deficiency: A Rare Cause of Isolated Congenital Hypothyroidism in Two Siblings

MacGloin Helen , Bhushan Arya Ved , Schoenmakers Nadia , Buchanan Charles

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

hrp0082p3-d1-670 | Bone | ESPE2014

Primary Hypomagnesaemia with Secondary Hypocalcaemia (HSH): an Uncommon Diagnosis for a 2 Month Old Afro-Caribbean Formula Fed Infant Presenting with Seizures

Ihe Chibuzor , Kalitsi Jennifer , Kapoor Ritika , Buchanan Charles

Background: HSH is a rare condition, first described by Paunier et al. (1968). It is an autosomal recessive disorder arising from impaired intestinal absorption of magnesium (Mg) together with renal Mg loss due to a re-absorption defect in the distal convoluted tubule. Mutations in the TRPM6 gene (Chr9q21) (OMIM #607009) have been identified as the underlying genetic defect. A review of 28 affected individuals (21 families) showed median age of diagnosis of 2 months, ...

hrp0095p1-135 | Multisystem Endocrine Disorders | ESPE2022

Hypoaldosteronism without hypocortisolism - an unusual presentation of APECED syndrome

Gounari Eleni , Buchanan Charles , Ghataore Lea , Hannah Romanie , Bushan Arya Ved

Background: Automimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an extremely rare autoimmune condition caused by AIRE (autoimmune regulator) gene mutations and characterised by a classic triad of 1) chronic mucocutaneous candidiasis, 2) hypoparathyroidism and 3) adrenal insufficiency. APECED can involve any endocrine or non-endocrine organ. Consequently, clinicians need to be mindful of the great variability in presentation. Although ad...

hrp0095p1-191 | Thyroid | ESPE2022

Hyperthyroidism leading to Idiopathic Intracranial Hypertension in a Child – A Case Report

Agrawal Pankaj , R Kapoor Ritika , A Chapman Simon , Wei Christina , R Buchanan Charles , Bhushan Arya Ved

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

hrp0092p2-231 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Macroprolactinoma Presenting with Pituitary Apoplexy Associated with Middle Cerebral Artery Infarction in an Adolescent Male

Newbold Sally , Arya Ved Bushan , Kapoor Ritika , Thomas Nick , Fox Krystal , Aylwin Simon , Buchanan Charles

Background: Pituitary apoplexy is a clinical syndrome caused by haemorrhage of the pituitary gland, typically characterised by acute confusion, headache, vomiting and visual disturbance. It is regarded as a medical emergency. It is rare in childhood and adolescence, occurring in association with pituitary tumours. We report an unusual case of pituitary apoplexy associated with a cerebral infarction secondary to internal carotid artery compression.<p class=...

hrp0082p2-d3-499 | Endocrine Oncology | ESPE2014

GH-Secreting Pituitary Adenoma with Gigantism: a Challenging Case

Chinoy Amish , Ismail Dunia , Kalitsi Jennifer , Gordon Nadia , Bullock Peter , Kapoor Ritika , Aylwin Simon , Buchanan Charles

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

hrp0097p1-191 | Thyroid | ESPE2023

Paediatric Graves’ Disease: Presentation, Treatment and Follow up. A Single Centre Experience from United Kingdom.

Vijayan Roopa , Kapoor Ritika , Agrawal Pankaj , Buchanan Charles , Chapman Simon , Arya Ved

Objective: To describe a cohort with paediatric Graves disease followed between 2012 and 2022 at King’s College Hospital, London.Materials and Methods: Retrospective study of 36 patients treated with block and replace regimen of anti-thyroid drugs with a median (range) follow up of 4.25 (1.1-10.8) years. Demographic, clinical, biochemical and treatment data were collected from clinical records. Predictive factors f...

hrp0097p1-395 | Thyroid | ESPE2023

Thyroid Storm with Diabetes Insipidus: Management of A Rare Endocrine Presentation In A Child

Agrawal Pankaj , R Kapoor Ritika , R Buchanan Charles , Bhushan Arya Ved

Introduction: Thyroid storm is an acute, life-threatening, emergency in children with thyrotoxicosis. It is extremely rare and could be an initial presentation in previously undiagnosed children. Thyroid storm with diabetes insipidus (DI) has been reported in adults, but no cases have been reported in children. We herein report a child with thyroid storm with transient central DI.Case Report: A 7-year-old girl, presented...

hrp0097p2-144 | Growth and Syndromes | ESPE2023

Beyond the surface: A Tale of Uncovering the True Diagnosis

Vijayan Roopa , Fox Krystal , Parmar Hannah , Kapoor Ritika , Buchanan Charles , Bhushan Arya Ved

Introduction: In a large series, approximately 65% of boys with delayed puberty have constitutional delay in growth and puberty (CDGP). We report an adolescent male who presented with delayed puberty and managed as presumed CDGP. Unexpected pubertal progression while receiving treatment made us question the diagnosis of CDGP.Case-report: A 15-year-old African adolescent male presented with delayed growth and puberty. He ...

hrp0092p1-215 | GH and IGFs (1) | ESPE2019

Acromesomelic Dysplasia, Type Maroteaux (AMDM): Impact of Long-term (8 years) High-dose Growth Hormone Treatment on Growth Velocity and Final Height in Two Siblings

Arya Ved Bhushan , Raj Meena , Kapoor Ritika R , Chapman Simon A , Younes Maha , Irving Melita , Buchanan Charles R

Introduction: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare autosomal recessive skeletal dysplasia, characterized by severe dwarfism and disproportionate shortening of the extremities, predominantly affecting middle and distal limb segments. It results from loss-of-function mutations affecting the C-type natriuretic peptide (CNP) receptor (NPR-B), a transmembrane guanylyl cyclase receptor encoded by the NPR2 gene. Resistance to growth hormo...