Endocrine Abstracts

Background: Male hypogonadism is commonly caused by hypothalamo-pituitary testicular disease. The effect of modifiable risk factors (obesity, alcohol, smoking, prescribed medications and recreational drugs) on secondary hypogonadism in a clinic-based cohort is unclear. The aim of this study was to ascertain the prevalence and effects of modifiable risk factors on secondary hypogonadism.Method: This was a retrospective, cross-sectional observational study...

Case History: We report the case history of a 64-year-old woman who was admitted to hospital for evaluation of unsteadiness associated with postural hypotension. There was no history of headache, visual blurring, weight loss, diarrhoea or steroid treatment. She was taking high dose medroxyprogesterone acetate (MPA) 100 mg three times per day for 5 years following diagnosis of complex hyperplasia on endometrial biopsy for postmenopausal bleeding. Her past history included ischa...

Introduction: Delivering an equitable service is one component defining a quality service. Various factors impact on diabetes control including health beliefs and socioeconomic pressures. To determine the role played by ethnicity and/or deprivation we audited access to insulin treatment regimens and overall diabetes control in our clinic population of children and young people with type 1 diabetes mellitus (CYPT1DM).Methods: Three hundred and twenty-five...

Introduction: Hypogonadotrophic hypogonadism (HH) is a genetically heterogeneous disorder. A number of genes have been implicated in its pathogenesis but, to date, in most cases, the cause remains genetically unknown.Case: A 14-year old male with delayed puberty (G1P2A3, testes two males) and family history of HH was diagnosed with HH following anterior pituitary assessment and an overnight gonadotrophin profile. His baseline gonadotrophins were low (LH,...

Background: Continuous subcutaneous insulin infusion (CSII) is proving superior in reducing HbA1c compared to multiple daily injections (MDI) in both the adult and paediatric populations. This study aims to compare the two methods, and evaluate the importance of education when starting insulin pump therapy in children.Design: Patients who attended a ‘pump school’ provided by the Royal Manchester Children’s Hospital between January 2010 and...

Introduction: Insulinoma is a tumour, derived from the beta cells of the pancreas. The incidence in the general population is 4 cases per million a year. 80 to 90% of insulinomas are benign and <10% are malignant.Case presentation: A 67-year-old lady was admitted via the emergency department after being found unresponsive at home. She was found to be hypoglycaemic and responded to i.v. dextrose. She was diagnosed with type 2 diabetes mellitus a year ...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by unresponsiveness to ACTH and isolated cortisol deficiency. FGD is caused by mutations in genes encoding the ACTH receptor (melanocortin 2 receptor (MC2R)), its accessory protein (MRAP) or the steroidogenic acute regulatory protein (StAR). One significant feature is generalized skin hyperpigmentation which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (...

Introduction: Disorders of sexual differentiation (DSD) are uncommon and pose many challenges to families affected and clinicians. The genotypic 46XY male with female phenotype form an interesting group with diverse presentation. We studied all such children attending our multidisciplinary DSD clinic. Only in a minority of these children did newborn examination raise the possibility of DSD. Delays in identifying these abnormalities can cause significant psychological difficult...

Mutations of the transcription factor GATA3, which is important for maintaining human breast luminal epithelial cell differentiation and quiescence, have been reported in 17 oestrogen receptor (ER) positive breast cancers, although the functional effects of these mutations have not been studied. We therefore investigated 56 ER-positive breast cancers for GATA3 mutations. The tumours were macrodissected, and immunohistochemistry for GATA3 revealed a strong correlation between E...

Background: The route of oestrogen replacement has an influence on GH sensitivity in hypopituitary women, although the practical relevance of this effect remains unclear.Objectives: To compare the effects of oral and transdermal oestrogen replacement on GH requirement in adult females with hypopituitarism receiving GH replacement.Methods: This cross-sectional, observational study included 69 GH-deficient women each receiving a stab...