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43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes


Pituitary and growth

ea0039ep101 | Pituitary and growth | BSPED2015

Case series evaluating phenotypical and radiological signs of patients with SHOX mutation

Childs Alexandra , Ferguson Jane , Burren Christine , Crowne Elizabeth , Moudiotis Christopher

Background: Estimates for the prevalence of SHOX mutation in children with short stature vary from 2 to 15%. Unless specific clinical and radiological signs are sought these patients can be misdiagnosed as idiopathic short stature. An evidence based clinical scoring system has been published to identify these patients; more recently characteristic radiological signs have also been identified in bone age X-rays. To our knowledge there has not been a survey in the UK ev...

ea0039ep102 | Pituitary and growth | BSPED2015

Final adult height and childhood growth trajectories in a cohort of preterm infants

Ferguson Elspeth , Wales Jerry , Gibson Alan , Carney Sally , Wright Annie , Wright Neil

Background: Many premature infants experience significant early growth failure in the weeks following delivery. Subsequent catch-up growth has traditionally been assumed to have occurred by early childhood. Most studies have focused on cohorts defined by birth weight, for example, <1500 g resulting in disproportionate numbers of small for gestational age (SGA) infants as opposed to those small solely as a consequence of prematurity. Few studies have examined growth compare...

ea0039ep103 | Pituitary and growth | BSPED2015

Does better adherence to GH treatment using jet rather than needle delivery translate into improved growth outcomes?

Michaelidou Maria , Whitten Sue , Bajaj Priti , Spoudeas Helen

Introduction: We wanted to assess whether our report of better adherence to GH therapy using jet (ZomaJet) rather than needle delivery in a large nationwide cohort, translated into better growth outcomes.Aims and hypothesis: To retrospectively audit growth markers in our local split-site (GOSH/UCLH) cohort of children, starting GH using Zomajet between 01.01.2010 and 31.12.2012, for whom we had previous adherence (PDC) scores.Metho...

ea0039ep104 | Pituitary and growth | BSPED2015

Overcoming the need for a second test: an evaluation of anthropometric, biochemical, and radiological parameters in the diagnosis of GH deficiency

Ali Muzzammil , Casey Angela , Kirk Jeremy , Dias Renuka

Background: The investigation of short stature includes evaluation of a number of clinical, radiological, and biochemical factors. This often includes dynamic function testing to rule out abnormalities of the hypothalamic–pituitary axis to rule out GH deficiency (GHD). NICE guidance advises that two GH stimulation tests demonstrating subnormal GH peak <6.7 μg/ml (20 mU/l) is required to confirm the diagnosis of GHD.Objectives: To interrogat...

ea0039ep105 | Pituitary and growth | BSPED2015

Childhood somatotroph pituitary adenomas due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations

Coxson Edward , Barton John , Dang Mary , Korbonits Marta , Burren Christine

Introduction: Two childhood cases of somatotroph pituitary adenomas caused by aryl hydrocarbon receptor interacting protein (AIP) mutations highlight the importance of screening for familial isolated pituitary adenoma (FIPA) genes and wider family implications.Case 1: A 13.5-year-old girl presented with 5 years growth acceleration and size ten feet, with no headache or visual disturbance. Examination: coarse facial features, large hands and feet...

ea0039ep106 | Pituitary and growth | BSPED2015

Acid-labile subunit deficiency: a case report

Punniyakodi Sadhanandham , Puthi Vijith , Dunger David , Semple Robert

Background: Acid-labile subunit (ALS) protein plays a vital role in maintaining the serum IGF by prolonging the half-life of IGF/IGFBP binary complex. ALS deficiency due to IGFALS gene mutation results in primary IGF1 deficiency and associated with growth impairment, insulin resistance and occasionally delayed puberty.Case report: A 9-year-old boy was referred for short stature (height −1.8 SDS and weight −1.8 SDS). He is the sixth of non-con...

ea0039ep107 | Pituitary and growth | BSPED2015

Manifestations of overt diabetes on GH treatment

Madhusudhana M , Mathew V , Marrow J , Willingham L , Gupta S

GH therapy has been reported to increase insulin resistance, but overt diabetes is rare. We present a young girl who developed symptoms of diabetes whilst on GH therapy with resolution of symptoms and normalisation of blood glucose profile on reducing the dose of GH.Case report: A 14-year-old girl with background of prematurity, learning difficulty, cerebral palsy, scoliosis, and pan hypopituitarism presented with chest infection, high blood glucose leve...

ea0039ep108 | Pituitary and growth | BSPED2015

Achieving a consensus on managing idiopathic thickening of the pituitary stalk through a national multidisciplinary forum, meeting virtually

Raman Nambisan Aparna Kesavath , Michaelidou Maria , Dimitrakopoulou Eftychia , Ederies Ash , Spoudeas Helen , Clayton Peter , Banerjee Indi , Visser Johannes , Blair Jo , Gevers Evelien , Dattani Mehul , Aquilina Kristian , Pettorini Benedetta , Albanese Assunta , Kamaly Ian , Korbonits Marta , Michalski Antony , Hargrave Darren , Pizer Barry , Chang Yen

Objectives: In 2010 we piloted a national multidisciplinary (MDT), meeting virtually to improve management of rare suprasellar (HPAT) tumours. In 2014 we reported centralised treatment decision-making in craniopharyngioma and now wished to examine whether centre based management of idiopathic thickening of the pituitary stalk (iTPS) differs and can be streamlined by wider debate. This might also inform current commissioned BSPED and CCLG guidance.Methods...

ea0039ep109 | Pituitary and growth | BSPED2015

A rare case of congenital hyperinsulinism associated with hypopituitarism due to pituitary stalk interruption syndrome

Alsaffar Hussain , Phanse Suprya , Giri Dinesh , Didi Mohammed , Senniappan Senthil

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder that is characterised by persistent hypoglycaemia in infants and children. We are reporting a rare case of diffuse CHI who was also found to have hypopituitarism and several other congenital anomalies. A similar association has not been reported in literature.Case: A female baby was born at 42 weeks gestation with a birth weight of 4.185 kg (1.72 SDS). She suffered shoulder dystoci...

ea0039ep110 | Pituitary and growth | BSPED2015

Radiolucent hand outline: a simple intervention to improve quality of bone age X-rays

Cockill Toby , Hewitt Amanda , Wright Neil , Elder Charlotte

Background: X-rays of the left hand and wrist are used to assess skeletal maturity. The Tanner-Whitehouse 3 (TW3) scoring method provides a framework for calculating bone age but specifies exact hand position. We noted a number of poor quality films, caused by difficulty with hand placement, e.g. scrunching of the fingers. This compromises the ability to score accurately and in a proportion necessitates re-X-ray, resulting in additional time, cost and radiation exposure. We in...

ea0039ep111 | Pituitary and growth | BSPED2015

Cost feasibility study: performing GH stimulation test only not full anterior pituitary function tests for simple short stature

Sloane Sarah , O'Donnnell Judith , Carney Sally , Dimitri Paul , Wright Neil , Elder Charlotte

Background: Currently we investigate children with possible GH deficiency, but who are healthy, with a normal short stature screen, and without suspicion of other pituitary dysfunction (‘simple short stature’), with full dynamic anterior pituitary function tests (APFT). An abnormal GH peak leads to a second GH stimulation test. We studied the cost implications of only performing a GH stimulation test initially, followed by full APFT if the initial GH peak was low, to...

ea0039ep112 | Pituitary and growth | BSPED2015

Skeletal disproportion in Turner syndrome

McVey L , Fletcher A , Donaldson M D , Wong S C , Mason A

Aims: The aim of this study is to evaluate sitting height (SH) and leg length (LL) in girls with Turner syndrome.Methods: Retrospective study of SH and LL SDS, using SH–LL SDS (~0 in a proportionate child) as a measure of disproportion in 76 girls with Turner syndrome. Eligible girls were aged at least 4 years, had not started recombinant GH, and had no other chronic disease. 40 girls with measurements prior to pubertal induction and at adult height...

ea0039ep113 | Pituitary and growth | BSPED2015

Endocrine outcomes in hypothalamic hamartoma: a single-centre study

Fan Hui , Shaw Nicholas , Barrett Timothy , Kirk Jeremy , Dias Renuka

Background: Hypothalamic hamartomas (HH) are congenital, benign tumours consisting of disorganised neuronal cells within the hypothalamus. They usually present with precocious puberty, seizures, behavioural abnormalities, either in isolation or combined.Aims: To look at the endocrine outcomes of patients with HH.Methods: A retrospective casenote review of all patients diagnosed with HH over a 20-year period within a single endocrin...

ea0039ep114 | Pituitary and growth | BSPED2015

Growth monitoring in girls attending a tertiary paediatric ENT service with middle ear disease

Bremner Morven , Carbarns Amy , Essa Ismail , Bradley Rebecca , Choong Wong Sze , Mason Avril , Kubba Haytham

Background: Recurrent middle ear disease may lead to poor growth or may suggest an underlying diagnosis associated with short stature. The aim of the study was to describe stature in a cohort of girls attending a paediatric ENT service.Methods: Height and weight was measured in all girls attending ENT clinics over an 8 week period (n=83). A mid-parental height (MPH) was calculated from reported parental heights. Th...

ea0039ep115 | Pituitary and growth | BSPED2015

Growth monitoring and use of growth hormone in children with renal failure

Lythgoe Hanna , O'Hagan Emma , Shenoy Mohan

Background: Chronic renal failure can cause significant growth impairment. Many factors contribute towards growth failure and it has a significant impact on morbidity, mortality and quality of life. Patients who undergo renal transplantation experience some ’catch-up’ growth but most patients do not reach their target height. It is important that growth is monitored regularly and growth failure addressed, including offering patients growth hormone (GH) where appropri...

ea0039ep116 | Pituitary and growth | BSPED2015

GH deficiency and phenotypic features in four cases of 22q11.2 deletion syndrome

Kular Dalvir , Baker Joanne , Dattani Mehul

Background: 22q11.2 deletion syndrome (22q11DS) displays a wide phenotypic spectrum and is the most common deletion syndrome with an estimated incidence of one in 4000 children. Short stature is a phenotypic feature of the spectrum; uncommonly, GH deficiency (GHD) has been identified as a cause of short stature within this population.Patients and methods: We describe a case series of four 22q11DS patients with concurrent GHD that have been followed up in...

ea0039ep117 | Pituitary and growth | BSPED2015

Brain or the kidneys? Nephrogenic Diabetes Insipidus with loss of Pituitary brightness on MRI.

Naufal Buhary Mohamed , Kumar Yadlapalli , Cuthell Oliver , Crowne Liz , Saleem Moin , Barton John

A 6 month boy with chronic vomiting and severe weight faltering (birth weight 50th to 75th centile dropped to 0.4th centile) originally attributed to gastro-oesophageal reflux was admitted after a period of poor urine output and found to have severe hypernatraemia (Na 168 mmol/l, K 4.1 mmol/l, Urea 16.2 mmol/l, Creatinine 54 umol/l) with high plasma osmolality (330 mosm/kg) and inappropriately low urine osmolality (130 mOsm/Kg). Renal USS was normal with slightly small kidneys...

ea0039ep118 | Pituitary and growth | BSPED2015

Mosaic form of Turner’s can be associated with normal stature and spontaneous puberty: a case report.

Park J , Losa I

Background: Turner’s syndrome is the most common sex chromosome abnormality in females resulting from a 45,X cell line. A mosaic chromosomal complement (e.g. 45,X/46,XX) is detectable in over half of all patients with Turner’s. Characteristically girls with Turner syndrome have a short stature attributable to the presence of SHOX (short stature homeobox-containing gene on the X chromosome) gene. Most affected women have no pubertal development and primary am...