Endocrine Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...