Endocrine Abstracts

Over the last few years, we have seen increasing numbers of referrals to our regional paediatric endocrine unit with premature sexual maturation (PSM), especially adrenarche and isolated thelarche. Therefore, we audited referrals for PSM over three years, and compared them to published historical data collected over 15 years in another regional paediatric endocrine unit (Bridges et al. 1994).<thead valig...

Prostaglandins are strongly implicated in the onset and maintenance of human parturition and their synthesis is increased within the uterus in association with labour. Enzymes involved in their synthesis, (cyclo-oxygenase-2), and catabolism, (prostaglandin dehydrogenase) are up and down-regulated respectively, in association with labour. The human prostaglandin dehydrogenase (PGDH) gene is approximately 34kb in size. A large 5' promoter region containing numerous potential tra...

Introduction: The diagnosis of Turner Syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosisand treatment there remain patients with TS who present late with delayed puberty.Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypothesis: To assess the effect of late GH treatm...

Introduction: Current recommendations for diagnosing central precocious puberty (CPP) in girls suggest using basal LH levels >0.3 IU/l to predict progression into CPP and using stimulated LH values >5 IU/l in the LHRH test to diagnose CPP. Our objectives were to test the efficacy of using basal LH values as well as to establish diagnostic cut-offs for LHRH tests.Method: Retrospective data collection of LHRH test results of 173 girls between 2 and...

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...

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: The diagnosis of isolated GH deficiency (IGHD) is based on multiple factors: clinical, radiological and biochemical along with suboptimal peak GH levels demonstrated on dynamic testing. Recent guidance from the National Institute of Clinical Excellence (NICE; UK; 2010) advises that two GH stimulation tests must demonstrate a subnormal GH peak <6.7 μg/l (20 mU/l) to confirm the diagnosis of IGHD. In our centre, three different GH provocation tests are used:...

Recombinant growth hormone (GH) administration uses several different injection devices. Despite offering free patient choice at GH therapy start, ~20% of our patients subsequently change GH device.Objective: To investigate reasons for GH device change, and evaluate the effect on adherence, height velocity standard deviation (HVSDS), and insulin-like growth factor-1 (IGF1).Method: Retrospective study of extracted growth data and la...

As the sensitivity of a single GH test is poor, current NICE guidelines (2010) state that to make a diagnosis of isolated GH deficiency (IGHD), two stimulation tests need to show subnormal peak GH levels. In our centre we use insulin tolerance (ITT) or glucagon stimulation (GST) as the 1st test, and arginine stimulation (AST) as the 2nd test.The purpose of this study was to identify the proportion of children with discrepant test results; and to establis...

Introduction: Optic nerve hypoplasia (ONH) can be bilateral or unilateral. It may be found either as an isolated finding or as part of other conditions such as septo-optic dysplasia (SOD), a variable triad of ONH, midline brain defects, and hypopituitarism. We have analysed data on patients with ONH within our regional cohort.Patients and methods: Ophthalmology and endocrinology case records from 136 patients with SOD (56) or ONH (79) were analysed. ONH ...