Searchable abstracts of presentations at key conferences in endocrinology

ea0095oc10.4 | Oral Communications 10 | BSPED2023

The use of efmody (modified-release hydrocortisone, MRHC) in patients with congenital adrenal hyperplasia (CAH): initial experience and patient feedback

Baioumi Alaa , Chatterjee Sumana , Crowne Elizabeth

Background: Standard glucocorticoid therapy in CAH often fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes, particularly in adolescents. Efmody, a MRHC, has recently been licensed for CAH patients aged >12 years following a phase 3 study by Merke et al., 2021 demonstrating improved biochemical control in adults, steroid dose reduction over time, and patient-reported benefit.<stron...

ea0085oc1.1 | Oral Communications 1 | BSPED2022

Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction

Maharaj Avinaash , Andrews Afiya , Chatterjee Sumana , Hwa Vivian , Storr Helen

Background: Growth Hormone Insensitivity (GHI) is characterised by short stature and functional IGF-I deficiency associated with normal/elevated GH levels. Marked genetic and phenotypic heterogeneity exist, and heritable defects in GH-IGF-I axis associated pathways account for mild-moderate to severe GHI. We report non-consanguineous twin brothers who present with short stature and bi-allelic mutations in QSOX2 encoding a nuclear membrane protein. Genome-wide associat...

ea0085oc1.2 | Oral Communications 1 | BSPED2022

A rare case of short stature with high total insulin like growth factor 1 (IGF-1) and a novel pregnancy-associated plasma protein A2 (PAPPA2) gene mutation

Chatterjee Sumana , Maharaj Avinaash , Storr Helen , Giri Dinesh

Background: PAPP-A2 is a protease which helps to release IGF-1 from a ternary complex by cleaving the IGF binding proteins (IGFBP-3 and -5). Free IGF-1 subsequently binds to its receptor resulting in cell proliferation and growth. Homozygous loss-of-function PAPPA2 mutations lead to low IGF-1 bioavailability and postnatal short stature (SS). Recombinant human IGF-1 (rhIGF-1) treatment improves height SDS in few patients. We report a patient with SS and high plasma tot...

ea0036P33 | (1) | BSPED2014

Improving the clinical pathway for diabetic retinal screening in paediatric diabetes

Chatterjee Sumana , McIntyre Bethannie , Cole Abosede , Burren Christine

Background: Diabetic retinopathy is a frequent cause of vision loss in young adults. NICE guidelines require services to offer annual retinal screening to all diabetic children aged ≥12 years. A local 2009–2010 audit identified 57% underwent screening but only 16% had results documented with the paediatric diabetes service, both areas requiring improvement. In 2011, the paediatric diabetes service formulated a standard operating procedure with the eye-screening prog...

ea0030p60 | (1) | BSPED2012

Septo-optic dysplasia and X-linked adrenoleukodystrophy: two rare conditions presenting together

Chatterjee Sumana , Croft Joanne , Sharrard Mark , Wales Jerry

Although pituitary abnormalities are the most commonly reported endocrine feature in septo-optic dysplasia, other endocrine abnormalities have not been described so far. We present a case of septo-optic dysplasia (SOD) and pituitary dysfunction, complicated by X-linked adrenoleucodystrophy (X-ALD) and primary adrenal insufficiency.A 4-year-old boy was referred with hypoglycaemic episodes and seizures during intercurrent illnesses. He had a history of pol...

ea0074oc1 | Oral Communications | SFENCC2021

A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology

Cottrell Emily , Chatterjee Sumana , Hwa Vivian , Storr Helen L.

Section 1: Case history: A 10-year-old girl presented with significant postnatal growth failure. Her birth weight was normal (–0.15SDS) but poor growth was observed from a few months of age. She had no other symptoms. On examination, height was –3.4SDS and head circumference –1.6SDS. She had no dysmorphic features and normal development. Section 2: Investigations: Baseline serum analyses were unremarkable. Karyotype was normal (46XX). Bone age was delayed by 2.5...

ea0095p51 | Late effects of cancer treatment | BSPED2023

Glucagon-like peptide-1 (GLP-1) receptor agonists as a new treatment option for hypothalamic obesity in the paediatric population: Preliminary data from a tertiary paediatric endocrine centre

Hawton Katherine , Chatterjee Sumana , Giri Dinesh , Crowne Elizabeth

Background: Hypothalamic obesity (HO) is defined as rapid weight gain, hyperphagia and lack of satiety due to physical hypothalamic destruction. HO does not usually respond to lifestyle modification and no pharmacotherapies are specifically approved for treating HO. Efficacy of glucagon-like peptide-1 (GLP-1) agonists, which suppress appetite via hypothalamic satiety centres, is uncertain in HO.Case series: We commenced ...

ea0027p25 | (1) | BSPED2011

Limbic encephalitis: a novel presentation of Hashimoto's thyroiditis in children

Chatterjee Sumana , Makaya Tafadzwa , Sharma Ruchi , Davies Emily , Desurkar Archana , Dimitri Paul

Global encephalopathy is a rare complication of Hashimoto’s thyroiditis. It typically presents with seizures, ataxia and tremors and responds to steroid therapy. Limbic encephalitis (LE) is even less well described in paediatric population. It presents with medio-temporal lobe symptoms (memory impairment, temporal lobe seizures and disturbances of affect) caused by inflammation within the hippocampus, amygdala, hypothalamus, insular and cingulate cortex. LE most commonly ...

ea0045oc6.6 | Oral Communications 6- Endocrine | BSPED2016

Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)

Chatterjee Sumana , Shapiro Lucy , Davies Kate M , Savage Martin O , Metherell Louise A , Storr Helen L

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

ea0085p46 | Pituitary and Growth 1 | BSPED2022

A rare heterozygous IGFI variant impairing IGF-I cleavage and causing postnatal growth failure: a novel disease mechanism offering insights into IGF-I physiology

Cottrell Emily , Andrews Afiya , Williams Jack , Chatterjee Sumana , Edate Sujata , Metherell Louise A. , Hwa Vivian , Storr Helen L.

Background: Pathogenic IGFI gene mutations causing childhood growth failure are extremely rare. Only five autosomal recessive mutations, one IGFI copy number variant and two heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations haven’t previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnatal growth failu...