Searchable abstracts of presentations at key conferences in endocrinology

ea0027p23 | (1) | BSPED2011

CHARGE syndrome: experience of a tertiary Endocrine Centre

Kumaran Anitha , Lazzeroni Pietro , Brain Caroline , Hussain Khalid , Kapoor Ritika R , Dattani Mehul

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical ...

ea0027p24 | (1) | BSPED2011

A case of familial isolated hypogonadotrophic hypogonadism due to FGFR1 G687R mutation

Tziaferi Vaitsa , Spoudeas Helen , McCabe Mark , Gregory Louise , Dattani Mehul T

Introduction: Hypogonadotrophic hypogonadism (HH) is a genetically heterogeneous disorder. A number of genes have been implicated in its pathogenesis but, to date, in most cases, the cause remains genetically unknown.Case: A 14-year old male with delayed puberty (G1P2A3, testes two males) and family history of HH was diagnosed with HH following anterior pituitary assessment and an overnight gonadotrophin profile. His baseline gonadotrophins were low (LH,...

ea0027p82 | (1) | BSPED2011

(Pseudo)hyperkalaemia caused by stomatin deficient cryohydrocytosis due to GLUT1 deficiency

Gevers Evelien , Jacobs Benjamin , Flatt Joanne , Bruce Lesley , Grunewald Stephanie , Dattani Mehul , Stewart Gordon

Hereditary stomatocytoses, including cryohydrocytosis, are anaemias in which the erythrocyte membrane has increased permeability resulting in electrolyte leakage and thus haemolysis. Many forms and underlying molecular mechanisms exist. GLUT1 is present in the blood–brain barrier and erythrocytes, but GLUT1-deficiency does not usually affect erythrocytes. We describe a child with a stomatocytosis due to a SLC2A1 mutation presenting with hyperkalaemia, liver disease...

ea0027p84 | (1) | BSPED2011

Mevalonic aciduria in a pedigree with presumed GH-insensitivity

Gevers Evelien , Kelberman Daniel , Aylwin Simon , Buchanon Charles , Waterham Hans , Dattani Mehul

Mutations in GHR, STAT5B and IGF1 lead to GH-insensitivity but often the cause of reduced GH-sensitivity remains unknown. We describe the identification of a mutation in the MVK gene encoding mevalonate kinase (MK) in a pedigree investigated for STAT5B-deficiency.A 15-year-old male born to consanguineous parents was referred for short stature (height 125.8 cm; −5.6 SDS) and arthritis. He presented, aged 2 years, with fev...

ea0025p235 | Pituitary | SFEBES2011

Cancer stem cells with a stabilising mutation in beta-catenin are implicated in the aetiology of human adamantinomatous craniopharyngioma

Andoniadou Cynthia Lilian , Gaston-Massuet Carles , Tissier Paul Le , Dattani Mehul , Martinez-Barbera Juan Pedro

Somatic stem cells of multiple tissues such as brain, blood, gut epithelium and epidermis, have specific roles in tissue homeostasis and plasticity of cell types. There is evidence that, when mutated, such cells, termed cancer stem cells (CSCs), also underlie tumorigenesis, but their presence in many tumours is elusive. In the pituitary gland, somatic stem cells (PSCs) have been previously identified and characterised in vitro and in vivo, but so far there is no ...

ea0023oc3.4 | Oral Communications 3 | BSPED2009

Severe midline abnormalities result in a distinct spectrum of endocrinopathies: implications for genetic diagnosis and follow-up

Alatzoglou Kyriaki S , Mehta Ameeta , Webb Emma A , Hindmarsh Peter C , Dattani Mehul T

Background: Holoprosencephaly (HPE) is a brain malformation that results from a defect in the patterning of the forebrain. Children with the most severe forms of HPE have endocrine deficits, in addition to neurologic and visual impairment. Forebrain abnormalities and pituitary hormone deficiencies are also part of the clinical spectrum of septo-optic dysplasia (SOD).Aim: Describe the spectrum of endocrinopathies in children with HPE and compare their cha...

ea0023oc3.6 | Oral Communications 3 | BSPED2009

Melatonin secretion in children with sleep disturbance and septo-optic dysplasia

Webb Emma A , Reilly Michelle O , Orgill Jane , Dale Naomi , Salt Alison , Gringras Paul , Dattani Mehul

Introduction: A previous case-report described one individual whose significant sleep disturbance in association with septo-optic dysplasia (SOD) was corrected with melatonin administration. Subsequently a trial of melatonin treatment in children with SOD and sleep disruption has become accepted clinical practice in many centres. There are however no published data describing melatonin secretion in these individuals.Methods: We studied six children with ...

ea0078oc4.6 | Oral Communications 4 | BSPED2021

The management of adrenal cell carcinoma in the United Kingdom at a single centre: a 25 year experience

Goff Nicole , Hughes Claire , Katugampola Harshini , Musthaq Imran , Hindmarsh Peter , Peters Catherine , Brain Caroline , Jorgensen Mette , Dattani Mehul

Background: Adrenal cortical carcinoma (ACC) in children is a rare and aggressive disease. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations at presentation, and post-operative decrease in cortisol can be challenging to manage. Focus on endocrine management has not been previously described.Case Series: 34 patients (age 2 wee...

ea0051p036 | Miscellaneous/other | BSPED2017

Quantification of appetite-regulating hormones in hypothalamic and simple obesity

Gan Hoong-Wei , Leeson Clare , Aitkenhead Helen , Farooqi Sadaf , Spoudeas Helen , Martinez-Barbera Juan Pedro , Dattani Mehul

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with hypothalamic damage. Its pathophysiology is incompletely understood, and is associated with hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various appetite-regulating hormones in HyOb and ‘simple’ obesity.Methods: Oral glucose-stimulated serum insulin and plasma oxytocin concentrations, and fasting concentrat...

ea0051p038 | Pituitary and growth | BSPED2017

Growth hormone neurosecretory dysfunction as part of the spectrum of growth hormone deficiency disorders which benefit from growth hormone treatment

Caiulo Silvana , Gan Hoong-Wei , Hughes Claire R. , Amin Rakesh , Spoudeas Helen , Peters Catherine , Hindmarsh Peter , Shah Pratik , Dattani Mehul

Objectives: Current provocative tests for GH deficiency (GHD) are neither 100% sensitive nor specific. GH neurosecretory dysfunction (NSD) refers to the presence of growth failure, normal stimulated GH responses, but impaired spontaneous GH secretion. We describe our experience in managing GHNSD over 7 years.Methods: We retrospectively reviewed a cohort of 106 children admitted for 12-h overnight GH profiles (with 20-min sampling) between 2010 and 2016. ...