Endocrine Abstracts

Introduction: Adrenal suppression secondary to long-term steroid therapy is a known risk and this can mask the evolution of primary adrenal insufficiency.Case report: A 6 years old girl with background of recurrent oral ulcers (probable mucocutaneous Behcet’s), Alpha-1-Antitrypsin deficiency, Bronchiectasis, on long-term oral Prednisolone treatment, was noted to have hyponatraemia (Na=122 mmol/l) and hyperkalaemia (K=6.6 mmol/l) during an inter-curr...

Introduction: Albright’s Hereditary Osteodystrophy (AHO, Pseudohypoparathyroidism type 1a) is inherited in an autosomal dominant manner. End-organ resistance is seen, primarily affecting parathyroid hormone (PTH) and thyroid hormones (TSH). The manifestation of hormone resistance, in particular resistance to PTH, depends on whether the mutated allele is inherited maternally or paternally.Cases: A 4 year old male child was incidentally found to have ...

NICE guidelines (2010) recommend two different GH provocation tests demonstrating subnormal peak GH levels to diagnose isolated GH deficiency (GHD). Choice of stimulation test varies in different units. In our centre, glucagon (GST) and clonidine (CST) stimulation tests are used to make a diagnosis of IGHD. IGF1 is done as part of the initial screening tests.Purpose of this study was to compare the GST vs CST and to establish if IGF1 level provided any e...

Background: With the increasing prevalence of obesity and related morbidity including glucose intolerance in childhood, there remains a dispute about the best screening test to identify this early. The aim of our study was to determine the prevalence of impaired glucose tolerance (IGT)/type 2 diabetes mellitus (T2DM) in a multiethnic cohort of 100 overweight/obese children and adolescents in our clinic and compare the results of the screening tests.Study...

Aim: To audit the current congenital hypothyroidism (CHT) management practice in our centre.Standards: Guidelines published by UK Newborn Screening Policy and Standards in 2005 and ESPE in 1999.Method: Retrospective audit from 2006 to 2010. The list was compared with the regional newborn screening lab to ensure data collection was complete.Results: Thirty cases were referred to the unit giving local incidence...

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity and 17,20 lyase activity. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in hypertension and mild glucocorticoid deficiency. Loss of 17,20 lyase activity results in sex steroid deficiency, presenting with undervirilisation in boys (46, XY DSD) and lack of pubertal development in girls. Here we present the cases of two si...

Background: Long term remission in paediatric onset hyperthyroidism (HT) is low at 20–30% compared to 40–50% in adult onset HT. There are very few studies which report long-term follow-up of paediatric onset HT especially into adulthood and factors which can predict a need for definitive treatment in the long-term.Objectives: To evaluate the long-term outcome of paediatric onset HT with follow-up into adulthood and identify any early predictors...

Background: WHO has recommended that adults of South Asian (SA) ethnicity need to have lower body mass index (BMI) cut-off to define overweight and obesity compared to White Caucasians (WC). The background for this is the increasing evidence that obesity-related morbidities are much higher at a lower BMI among SA compared to WC adults.Objective: The aim of our study was to evaluate differences in measures of insulin sensitivity amongst children and adole...

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity converting pregnenolone and progesterone to 17-hydroxypregnenolone (17Preg) and 17-hydroxy-progesterone, respectively, and 17,20 lyase activity, responsible for the conversion of 17Preg to dehydroepiandrosterone the crucial precursor of human sex steroid biosynthesis. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in glu...

The steroid 17α-hydroxylase enzyme CYP17A1 exerts two distinct activities that catalyze conversion reactions at key branch points in steroidogenesis. CYP17A1 17α-hydroxylase activity is the key step in cortisol synthesis whereas CYP17A1 17, 20 lyase activity generates sex steroid precursors. Inactivating CYP17A1 mutations result in CYP17A1 deficiency (17OHD), a rare form of congenital adrenal hyperplasia that classically presents with combined glucocorticoid and sex ...