Searchable abstracts of presentations at key conferences in endocrinology

ea0066p65 | Learning from Mistakes and Miscellaneous | BSPED2019

Perplexing presentation of hypoglycemia

Muniu Susan , Kumbattae Uma

Introduction: Ketotic hypoglycaemia is not an unusual presentation in preschool children particularly following gastroenteritis. Non-ketotic hypoglycaemia in a child is uncommon and could be due to endocrine or metabolic disorders.Case report: Presentation: 4-year-old presented with fainting episode and hypoglycaemia as first episode. She was managed by the ambulance crew with oral glucose. Weeks later present to emergency department with non ketotic hyp...

ea0095p58 | Miscellaneous/other 1 | BSPED2023

Endocrine presentation of a renal disorder

Hawkes Emma , Kumbattae Uma

Endocrine presentation of a renal disorder. Baby boy born at full term with Birth weight of 4.3 kg and discharged the next day. Baby initially breastfed but losing weight. Advised combination feeding with expressed breast milk and formula milk. Even after increasing feed volume by health visitor baby losing weight. On Day 28 was admitted to the Children’s Assessment Unit following a health visitor referral. Baby had a 2 day history of abdominal discomfort and loose stools...

ea0095p78 | Thyroid 1 | BSPED2023

Outcome of a case of foetal goitre

Unny Sachin , Kumbattae Uma

28-year-old pregnant female had been followed with serial scan and thyroid function tests with concern of foetal goitre. She had a previous stillbirth at term where a goitre was found at post-mortem and cause of death was hypothesized to be high output cardiac failure secondary to thyrotoxicosis. Mother’s thyroid function and thyroid antibodies were negative throughout pregnancy. Baby girl was born at 33 weeks by Caesarean Section with a birth weight of 1.785 kg She had a...

ea0066p12 | Bone | BSPED2019

Vitamin D dependent rickets

Muniu Susan , Iyer Dhaara , Kumbattae Uma

Introduction : Most common cause of rickets is vitamin D deficiency. Genetic mutations in the metabolism and function of Vitamin D is a rarer cause of rickets.Case report : A16 month old male presented with bilateral clavicular swelling, constipation, generalised weakness and poor growth. He also had delay in motor milestones and was only able to sit with support. He was born in the UK to consanguineous parents of Asian origin.Exam...

ea0039ep128 | Thyroid | BSPED2015

Audit on CH diagnosis and management in UHNM

Idris Taissir , Iyer Dhaara , Kumbattae Uma

Background: CH has an incidence of 1 per 3500 live births per year. Early diagnosis and treatment are essential to prevent severe morbidity of mental retardation and developmental delay in children. The newborn screening programme has played a major role in management of CH.Objectives: The aim of the first audit was to identify our practice in management of CH once the newborn screening laboratory notified about an abnormal result. Following the first au...

ea0095p73 | Pituitary and Growth 1 | BSPED2023

Significance of targeted gene panel sequencing in early childhood growth failure

Edavana Shaju , Kumbattae Uma , Hawkes Emma

Early childhood growth failures are associated with significant diagnostic and therapeutic implications. Testing for a panel of genes associated with a poor growth has identified a diagnosis of 3M syndrome. Index case was born at 36 weeks’ gestation with a birth weight of 1.88 kg (>2nd centile) and length 40 cm (<0.4 the centile) with head circumference 45 cm on 50th centile. Her initial assessment noted severe intrauterine growth retardation pattern. She had norm...

ea0095oc4.3 | Oral Communications 4 | BSPED2023

Primary adrenal insufficiency with muco-candidiasis- a rare cause of familial glucocorticoid deficiency due to thioredoxin reductase deficiency

Edavana Shaju , Bajpai Anurag , Hawkes Emma , Kumbattae Uma

A 11-year 10-month boy born of non-consanguineous marriage presented with recurrent oral and respiratory tract infections and failure to thrive from the age of one year. He was born at term with a birth weight of 3.5 kg with an uneventful perinatal period. The parents noticed recurrent oral infections with the whitish curd-like layer deposited over the oral mucosa. They also complained of gradual skin darkening, easy fatiguability, and growth failure over the last three years....

ea0095p79 | Thyroid 1 | BSPED2023

Cardiac presentation of a common endocrine condition

Unny Sachin , Gunasekara Agampodi , Kumbattae Uma , Ramesh Pavanasam

Case summary: 7 yr old girl referred by GP to the cardiology clinic with heart murmur. Mother reported to GP about facial and periorbital puffiness intermittently for the last 2 years. Cardiology clinic review showed 1/6 short systolic murmur with small pericardial effusion. Pericardial effusion was initially thought to be possible post viral illness and the facial puffiness which remained unexplainable. A repeat Echo at 3 months later showed persistence of pe...

ea0051oc5.6 | Oral Communications 5 | BSPED2017

Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon ()GH receptor mutations

Chatterjee Sumana , Rose Stephen , Mushtaq Talat , Clayton Peter , Ten Svetlana , Bhangoo Amrit , Kumbattae Uma , Dias Renuka , Shapiro Lucy , Metherell Louise , Savage Martin , Storr Helen

Objectives: Patients with homozygous 6Ψ mutations have GH insensitivity (GHI). We previously described spectrum of clinical and biochemical phenotypes of 11 6Ψ patients (David et al. JCEM 2007;92:655) and now report 9 additional patients. Response to rhIGF-I therapy has not previously been assessed.Methods: 20 6Ψ patients (12 M, 11 families, mean age 4.0±2.2 year) were diagnosed genetically in our centre. Continuous ...