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45th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 5

ea0051oc5.1 | Oral Communications 5 | BSPED2017

New insights into the preoperative localisation of corticotroph adenomas in paediatric Cushing’s disease (CD)

Wilkinson Ingrid C.E. , Evanson Jane , Matson Matthew , Miszkiel Katherine , Grieve Joan , Sabin Ian , Afshar Farhad , Martin Lee , Grossman Ashley B. , Akker Scott , Savage Martin O. , Drake William M. , Storr Helen L.

Introduction: Selective transsphenoidal microadenomectomy (TSS) is the first-line treatment of paediatric Cushing’s disease (CD). Corticotroph adenomas in children are often small and difficult to visualize. We aimed to assess the utility of pituitary MRI and bilateral inferior petrosal sinus sampling (BIPSS) in confirming the diagnosis of CD and the localisation of the adenoma. We also report our early experience of STEALTH MRI (volumetric T1 weighted, contrast-enhanced ...

ea0051oc5.2 | Oral Communications 5 | BSPED2017

The clinical and molecular spectrum associated with obesity-associated GNAS1 mutations

Talbot Fleur , de Mendes Edson , Keogh Julia , Henning Elana , Farooqi Sadaf

Heterozygous mutations in GNAS1, which encodes the Gαs protein involved in multiple signalling pathways, are classically associated with Albright’s Hereditary Osteodystrophy (AHO). GNAS1 is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of at least four different transcripts. The classic constellation of phenotypic features includes short stature, round face, brachydactyly, obesity, dental hypopl...

ea0051oc5.3 | Oral Communications 5 | BSPED2017

Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology

Da Costa Alexandra Rodrigues , Meimaridou Eirini , Prasad Rathi , Metherell Louise A. , Chapple J. Paul , Storr Helen L.

Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic...

ea0051oc5.4 | Oral Communications 5 | BSPED2017

Characterisation of skeletal developmental in mouse models of Duchenne Muscular Dystrophy

Wood Claire , Wong Jarod , Straub Volker , Ahmed Faisal , Farquharson Colin

Short stature and osteoporosis are common in DMD. Glucocorticoids slow disease progression but are associated with further growth retardation and skeletal fragility. The muscular dystrophy x-linked (mdx) mouse is the most commonly used animal model of DMD. However, the phenotype is relatively mild and few medications that have shown therapeutic benefit in the mdx have translated clinically. The utrophin heterozygous mdx mice might be more appropriate...

ea0051oc5.5 | Oral Communications 5 | BSPED2017

Uterine development: the effect of induction of puberty with oestrogen in primary Amenorrhoea

Burt Elizabeth , Pimblett Antoinette , Talaulikar Vikram , Yasmin Ephia , Mavrelos Dimitri , Davies Melanie , Conway Gerard

Introduction: The uterus develops during puberty and increases not only in length but also in width and depth, to achieve a mature shape. Pubertal induction with exogenous oestradiol aims to mimic this. Research to date shows variable results for the attainment of an adult uterine configuration in females with hypogonadism. Suboptimal uterine development is hypothesised to be a contributing factor for adverse reproductive outcomes in females with hypogonadism undergoing egg do...

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 ...

ea0051oc5.7 | Oral Communications 5 | BSPED2017

The Phenotyping of Overgrowth (POD) Study: a novel ‘no win, no fee’ model for translating research findings into clinical diagnoses

Foster Alison , Antoniadi Thalia , Wallis Yvonne , Griffiths Mike , Lim Derek , Cole Trevor , Barrett Tim

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

ea0051oc5.8 | Oral Communications 5 | BSPED2017

Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus

van Walree Eva , Park Soo-Mi , Bochukova Elena , Nicholas Adeline K , Lyons Greta , Chatterjee V Krishna , Schoenmakers Nadia

Introduction: Isolated congenital central hypothyroidism (CeCH) is a rare entity associated with mutations in IGSF1, TSHB, TRHR, or the coding region of TBL1X. We describe a female with CeCH and extrathyroidal features due to a partial X-chromosomal deletion involving TBL1X and other genes. Further studies showed markedly reduced TBL1X expression in patient-derived leukocytes and enabled linkage of particular clinical phenotypes to ...

ea0051oc5.9 | Oral Communications 5 | BSPED2017

Adult height in patients with testotoxicosis

Lane Laura C , Flowers Josephine , Cheetham Timothy

Background: Familial male-limited precocious puberty (FMPP) or ‘testotoxicosis’ is a rare form of gonadotrophin-independent precocious puberty. There is a paucity of data on final adult height in these patients and no consensus on what constitutes appropriate treatment. Our aim was to assess the management and final height of patients with FMPP under our care as well as those reported in the literature.Methods: Growth data were obtained from no...