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, ...

hrp0095p1-590 | 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...

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....

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...

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...

hrp0084p1-28 | Diabetes | ESPE2015

Clinical Characterisation of a Novel RFX6 Mutation – A Rare Cause of Neonatal Diabetes Syndrome

Cheung Moira , Chapman Simon , Hunt Katie , Makin Erin , Hickey Ann , Hind Jonathan , Ellard Sian , Buchanan Charles , Kapoor Ritika

Background: Mitchell Riley syndrome is a rare syndrome caused by mutations in the RFX6 gene, resulting in neonatal diabetes, intestinal atresia, pancreatic abnormalities, and biliary hypoplasia. RFX6 is a winged helix transcription factor that is expressed in the developing pancreas and in the gut endoderm. Previous eight case reports highlight poor outcomes with usually a fatal course in infancy.Case presentation: Twin 2 of a dichorion...

hrp0084p2-471 | Growth | ESPE2015

Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study

Aston Kayleigh , Grosvenor Gemma , Peters Catherine , Mathew Verghese , Blair Joanne , Chapman Simon , Buchanan Charles , Maher Eamonn , Dias Renuka

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...