Endocrine Abstracts

Androgen excess in women is most commonly caused by polycystic ovary syndrome (PCOS), but sinister ovarian and adrenal pathology requiring immediate action needs to be excluded. Here we examined whether the severity of androgen excess indicates the likely underlying pathology in women evaluated for androgen excess.We included all women undergoing assessment of serum DHEAS, androstenedione (D4) and testosterone (T) by liquid chromatogra...

Neonatal salt wasting can present in neonates with a life-threatening state of hyponatraemia, hyperkalaemia, dehydration and metabolic acidosis. The differential diagnosis of neonatal salt wasting includes congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency, pseudohypoaldosteronism (PHA), X-linked adrenal hypoplasia congenital (AHC) and aldosterone synthase defects. Diagnostic work up should include serum measurement of ACTH, Cortisol, 17OH-prog...

A 13 year old female presented with a two day history of abdominal pain and vomiting which responded to analgesia. Pelvic ultrasound showed complex ovarian cysts and a pre-pubertal uterus. Initial blood tests were consistent with hypergonadotrophic hypogonadism (LH 31.5 U/l, FSH 14.3 U/l and oestradiol <70 pmol/l) and karyotype was 46 XX. Bone age was slightly delayed (measured 12.4 years, chronological age 13.7 years). On referral to paediatric endocrinology, the patient ...

Background: Pituitary abscess is rare but a serious intrasellar infection. It should be considered in the differential diagnosis of the sellar masses due to its high morbidity and mortality rates. Despite recent advances in radiological investigations, it remains a challenge to make a definitive diagnosis preoperatively [1]. We present a case of pituitary abscess who presented with pan hypopituitarism and central diabetes insipidus.Case presen...

Gestational diabetes mellitus (GDM) increases fetal morbidity/mortality, and is associated with elevated risks of offspring cardiometabolic disease. These risks are compounded in infants born large for gestational age (LGA) rather than appropriate size (AGA), a common complication of GDM associated with altered placental function. Circulating extracellular vesicle (EV)-associated miRNAs are internalised into the placenta and are emerging as key GDM mediators, with their role i...

Metabolic syndrome and its hepatic manifestation, non-alcoholic fatty liver disease (NAFLD), are increasing in prevalence. Steroid hormones are established regulators of metabolic phenotype. 5β-reductase (AKR1D1) is highly expressed in human liver, inactivating steroid hormones, including glucocorticoids and androgens. The human AKR1D1 gene contains 9 exons; six splice variants have been identified and three lead to functional protein isoforms (AKR1D1-001, -0...

Aims and objectives: Continuous subcutaneous insulin infusion (CSII) has been in clinical practice since 1970s. NICE guidance (2008) recommends CSII in adults with type 1 diabetes (T1DM) if attempts to achieve target HbA1c with multiple daily injections (MDIs) result in disabling hypoglycaemia or HbA1c levels remain above 69 mmol/mol. The aim of our audit was to check compliance of our service against NICE guidance, and to see if CSII improved glycaemic control and/or hypoglyc...

Gestational diabetes (GDM) is a form of diabetes that is first diagnosed during pregnancy, complicating 8–24% of all pregnancies. Despite treatment, substantial numbers of babies are born large for gestational age (LGA), predisposing them to cardio-metabolic disease in adulthood. It is difficult to predict which pregnancies are most at risk. The study aimed to determine if circulating maternal serum small extracellular vesicle (sEV) miRNAs have the potential to predict al...

Background: Neonatal diabetes is an exceedingly rare condition, defined by the presence of persistent hyperglycaemia in the first months of life. It is sub-categorised into transient neonatal diabetes mellitus (TNDM) which resolves early and permanent neonatal diabetes mellitus (PNDM), which requires lifelong treatment. Transient neonatal diabetes is reported to have a global incidence of between 1/95 000–1/400 000 births. At present, there are less than 100 patients diag...

Background: NICE guidelines (NG18) state that paediatric patients aged <18 years old with suspected diabetes mellitus (DM) should be immediately referred to specialist care to confirm diagnosis and provide immediate treatment. The Nottingham University Hospitals (NUH) Paediatric Endocrine team advise primary care to investigate suspected hyperglycaemia using a POCT (point of care testing) glucose meter at the primary care facility to avoid the delay incurred by sending a s...