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48th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Online, Virtual
24 Nov 2021 - 26 Nov 2021

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Poster Presentations

Pituitary and Growth

ea0078p53 | Pituitary and Growth | BSPED2021

SGA, short stature, brachydactyly and joint stiffness due to SMAD4 variants in Myhre syndrome

Ramakrishnan Anand , Yakoop Silvia , Lim Sharon , Willemsen Ruben , Calder Alistair , Gevers Evelien

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

ea0078p54 | Pituitary and Growth | BSPED2021

Short stature due to a WAC mutation in Desanto-Shinawi Syndrome

Prentice Philippa , Gevers Evelien

We report a case of a girl with severe short stature (-3.5 SD) from the age of 2 years. She was born at term with a normal birth weight (-1.3 SD) to non-consanguineous Pakistani/British parents. She had global developmental delay, hypotonia and microcephaly (-2.0 SD). She also had juvenile xanthogranuloma, alternating esotropia, constipation and initial feeding difficulties. Her current height is -2.9 SD with a normal BMI, aged 11. Serum IGF1 at age 2 years was <25 (49-289...

ea0078p55 | Pituitary and Growth | BSPED2021

Duplication of pituitary gland-plus syndrome presenting with a transcranial nasal dermoid cyst

Chandwani Manju , Spilioti Diamantina-Xanthi , Alvi Sabah , Chumas Paul , Liddington Mark , Russell John , Warren Daniel , Elliott Martin , Nix Paul , Smyth Alistair

Duplication of pituitary gland in association with other midline craniofacial anomalies -DPG-plus syndrome - is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which hasn’t been described in previously reported cases. Ou...

ea0078p56 | Pituitary and Growth | BSPED2021

Case Report: Hypophysitis in a 9-year-old with Juvenile Idiopathic Arthritis - A Novel Association

Pattani Nikhil , Gan Hoong-Wei

Introduction: Chronic autoimmune hypophysitis is a rare disorder characterised by prolonged inflammation of the pituitary gland, with the commonest subtype being lymphocytic hypophysitis. It is often associated with hypopituitarism and is exceedingly rare in the paediatric population. Here, the authors present a novel case of asymptomatic, chronic hypophysitis in a paediatric patient in association with juvenile idiopathic arthritis (JIA). Case report: A...

ea0078p57 | Pituitary and Growth | BSPED2021

Rapid-onset obesity, hypothalamic and autonomic dysregulation with neuroendocrine tumours: Can this be ROHHADNET?

Nadar Ruchi , Sakremath Rajesh , Kirk Jeremy , Randell Tabitha , Jenkinson Helen , Woodman Helen , Saraff Vrinda , Mohamed Zainaba

Introduction: ROHHADNET is a rare syndrome characterized by rapid onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumours. Although obesity is the first recognisable feature, there is variable onset of other features, resulting in delayed or missed diagnosis, potentially leading to fatal consequences. We describe two cases with features of ROHHADNET, who had high heterogeneity in clinical spectrum. Cas...

ea0078p58 | Pituitary and Growth | BSPED2021

Management of cranial Diabetes Insipidus in a paediatric tertiary centre – clinical outcomes and patient perception of care

Garrahy Aoife , Dilrukshi MDSA , Vickars Marcus , Pal Aparna , Ryan Fiona , Makaya Taffy

There is growing recognition within Endocrinology physician and patient groups of morbidity and mortality in association with prescribing errors and dysnatraemia, in hospitalised patients with cranial diabetes insipidus (CDI). The study had two aims; firstly, to assess outcomes in hospitalised patients (paediatric and adult) with CDI by review of electronic records from 2012-2021, and secondly, to assess the same patient cohort’s perceptions of their care via telephone qu...

ea0078p59 | Pituitary and Growth | BSPED2021

Lymphocytic Hypophysitis: A rare entity in children - Case report

Agrawal Pankaj , Bhushan Arya Ved , Maratos Eleni , Bodi Istvan , Al Busaidi Ayisha , Wei Christina , Kapoor Ritika R , Aylwin Simon , Buchanan Charles R

Introduction: Pituitary inflammation (Hypophysitis) is rare in paediatric population and usually results in pituitary enlargement and hypopituitarism. Hypophysitis can be either primary (most commonly lymphocytic, granulomatous or xanthomatous disease) or secondary (consequent to systemic diseases, immunotherapy or alternative sella-based pathologies). We describe the clinical presentation and management of apparent primary lymphocytic hypophysitis in an adolescent girl. Case ...

ea0078p60 | Pituitary and Growth | BSPED2021

Abnormalities of growth hormone secretion in lowe syndrome: a case series

Pattani Nikhil , Dastamani Antonia , Gan Hoong-Wei , Dattani Mehul

Background: Lowe Syndrome is an X-linked recessive genetic disorder caused by OCRL gene mutations, which impair intracellular trafficking processes. Signs are multisystemic, including congenital cataracts, intellectual disability and proximal renal tubulopathy. Short stature is a common association, often attributed to chronic kidney disease through childhood. However, recent evidence suggests that the hypothalamo-pituitary-somatotroph axis may play a role. <p class="abste...