Endocrine Abstracts

Introduction: X-linked hypo-phosphataemic rickets is characterized by hypophosphataemia, vitamin D deficiency, poor bone and dental mineralization. Mutations occur within the PHEX gene. Currently 329 mutations have been sequenced1. We report a novel PHEX mutation in a female with hypophosphataemic rickets.Case report: A 12-year-old girl presented with, genu varum, short stature and a previous dental abscess. Investigatons showed hypophosphatae...

Introduction: Continuous subcutaneous insulin infusion (CSII) or ‘pump’, therapy is used for intensification of insulin therapy. NICE guideline 2008 recommends CSII as an option for adults / children 12 years or older with insulin dependent diabetes mellitus (IDDM), when multiple daily injection (MDI) insulin therapy results in disabling hypoglycaemia/fails to reduce HbA1c levels below 8.5%, and for children below 12 years whenever MDI is impractical or inappropriate...

Background and aims: Longitudinal data from the North West Adelaide Health Study (NWAHS) were used to examine the effect of development of metabolic syndrome between Stage 1 (2000–2003) and Stage 2 (2004–2006) on quality of life.Material and methods: The NWAHS is a random, representative sample of people aged 18 years and over living in the north west region of Adelaide. Participants were recruited via telephone interviews to attend the clinic....

Objective: Aromatase deficiency in mice or men prevents conversion of androgens to oestrogens and results in central obesity and insulin resistance. In idiopathic obesity, higher aromatase mRNA levels in adipose tissue predict peripheral rather than central fat distribution, but any contribution of aromatase to metabolic complications is unknown. Here, we measured plasma steroids in a large cohort of men and post-menopausal women, in whom aromatase is the major source of oestr...

Sleep and cortisol cycles have a complex inter-relationship that is not fully understood. Slow wave sleep appears to have an inhibitory effect on cortisol production but the effect of other stages is not so clear. From diseases, such as Addisons disease and Cushings syndrome, we know that cortisol levels have an impact on the quality of sleep. In insomnia and depression, both sleep and cortisol is altered.To investigate this relationship properly a minim...

A girl with family history of a disorder of sex development (DSD) was referred for biochemical investigations and genetic analysis. Parents were consanguineous and a sibling was thought to have partial androgen insensitivity although androgen receptor gene analysis does not fully explain the phenotype. A maternal uncle with perineal hypospadias and a maternal aunt also had the mutation. One sister was normal, one brother had dextrocardia and another brother had mental retardat...

Hypopituitarism has been reported in 28-65% of long-term survivors of traumatic brain injury (TBI). We attempted to define the natural history of post-traumatic hypopituitarism in order to devise guidelines for the optimal timing of patient assessment and hormone replacement.Fifty consecutive patients with severe or moderate TBI were enrolled in a prospective study of pituitary function during the acute phase, at 6 months and, at 12 months following TBI....

Recent evidence suggests a high prevalence of neuroendocrine dysfunction in patients following traumatic brain injury (TBI), but dynamic anterior pituitary assessment were performed in relatively small number of patients and posterior pituitary function remains poorly investigated.We studied 102 consecutive patients (84 males) who had survived severe or moderate TBI [initial Glasgow Coma Scale (GCS) score 3-13] at a mean (+/- standard deviation) of 19 +/...

Prenatal manipulations in animal models result in lifelong alterations in the stress responsivity of the hypothalamic-pituitary-adrenal axis (HPAA). While several human studies have found raised 0900h cortisol concentrations in low birthweight individuals, twenty-four hour cortisol profiles do not vary according to birthweight (a marker of adverse antenatal exposures). One explanation for this dichotomy is that 0900h cortisol concentration measured in a novel clinic setting ma...

Crooke Cell Adenoma (CCA) is a rare variant of ACTH-secreting corticotroph adenoma. Its importance derives from its aggressive behaviour, association with Cushings Disease and differentiation from metastatic carcinoma. A sixty-year old shopkeeper presented with a two-year history of generalised aches and pains, proximal muscle weakness, increased facial hair and easy bruising. She had also noticed an increased abdominal girth and facial rotundity. There was an eight-year histo...