Endocrine Abstracts

Type 1 pseudohypoaldosteronism (PHA1), defined as resistance to aldosterone, is characterised by salt wasting, hyperkalemia and metabolic acidosis and is associated with high renin and aldosterone levels. The autosomal recessive form is characterised by generalised salt wasting and is due to a defect in the epithelial sodium channel. Whilst there are individual case reports on this condition, there are little published data on long-term outcome including neurodevelopment.<...

Aims: To compare glycaemic control and change in body mass index (BMI) in children and adolescents newly diagnosed with type 1 diabetes (T1D) and started on either twice daily insulin (BD) or multiple daily insulin (MDI).Methods: This study looked retrospectively at all children newly diagnosed with T1D at our hospital from January 2006 to June 2007. There were 44 children and the outcome measures used were change in haemoglobin A1c (HbA1...

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...

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...

Introduction: Most (89%) UK units offer some form of free patient choice for new paediatric patients commencing GH therapy. Initial data indicates that patient choice improves adherence, resulting in improved growth (height velocity) short-term.Objective: To compare outcome measures between patients offered free choice and/or hospital supply (including home services and adherence tracking assessed using ampoule counting) with GH therapy with those who di...