Endocrine Abstracts

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: ROHHADNET is a rare syndrome characterized by rapid onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumours. Although obesity is the first recognisable feature, there is variable onset of other features, resulting in delayed or missed diagnosis, potentially leading to fatal consequences. We describe two cases with features of ROHHADNET, who had high heterogeneity in clinical spectrum. Cas...

Introduction: The pathogenesis of short stature and growth failure in Turner syndrome (TS) is multifactorial, and includes low birthweight, ovarian failure and skeletal dysplasia. Although abnormalities of the GH-IGF1 axis are implicated, patients are not GH-deficient (GHD) and consequently non-GHD doses of GH are utilised ie. 45–50 μg/kg per day or 9.8 mg/m2 per week. Although initially used in GHD patients, IGF1 titration is increasingly being used in al...

Background: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. The hallmark feature of PORD is combined sex-steroid and glucocorticoid deficiency due to impairment of CYP17A1 and CYP21A2. Skeletal malformations resembling the Antley-Bixler Syndrome phenotype are common i...

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: HbA1c is a marker for the risk of long-term complications of Diabetes. Our unit cares for 349 children and young people (CYP) from a population with a higher than average prevalence of low-income families, ethnic minority families, and high unemployment. Over the last 10 years there have been service improvements, increased resources and changes in practice.Aims: To review HbA1c outcomes achieved annually from 2003, compared with published na...

Introduction: Prader–Willi syndrome (PWS) is characterised by hypotonia, obesity, short stature, and hypogonadism probably due to hypothalamic dysfunction (hypogonadotropic hypogonadism (HH)). Exaggerated adrenarche is however commonly noted in these patients. Early puberty is rarely described: we report two girls with PWS diagnosed with premature sexual maturation.Case reports: Case 1: this 8-year-old girl was neonatally diagnosed with PWS (materna...

Introduction: Steroid 5-α reductase type 2 deficiency causes 46,XY disorder of sex development (DSD) and is an autosomal recessive disorder resulting from mutations in the SRD5A2 gene. SRD5A2 facilitates the conversion of testosterone to dihydrotestosterone (DHT), crucially required for masculinisation of external genitalia. Thus 46,XY individuals with SRD5A2 mutations present with varying severity of undermasculinisation.We descri...

Introduction: Measurement of the anterior pituitary hormone prolactin is often performed in patients with pituitary pathology. Mild hyperprolactinemia occurs in subjects with hypothalamic disorders and/or pituitary stalk dysfunction, and is also described in patients with isolated optic nerve hypoplasia (ONH), this is proposed to be due to decreased dopaminergic tone.Objective: To assess prolactin levels in patients with septo-optic dysplasia (SOD) (with...