Endocrine Abstracts

Triple A syndrome (also known as Allgrove’s syndrome, MIM #231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, alacrima and achalasia. Neurological features may also be present. Various combinations of these features may be present which evolve over time. Triple A syndrome is caused by mutations in the AAAS gene which encodes for the protein ALADIN, a member of the nuclear pore complex, whose function is incompletely under...

APS I is a rare condition with autosomal recessive inheritance. We report a series of three sisters (Table 1), affected by APS I, who all had a mutation of the autoimmune regulator (AIRE) gene. An index case (A) died at 26 years old due to vascular complications.The management of primary hypoparathyroidism in case A, who also had type I diabetes was also complicated by nephrocalcinosis, renal calculi, chronic renal failure and vascular calcification. In ...

Anti-Mullerian hormone (AMH) is produced by the ovarian granulosa cells in immature follicles from around week 36 of gestation to the menopause. Expression is highest in pre-antral and early antral follicles. AMH has a generally inhibitory effect on early follicle development and possibly on the responsiveness of growing follicles to FSH. Serum AMH is markedly elevated in women with PCOS and increased concentrations have also been reported in the healthy prepubertal daughters ...

Phyto-oestrogens are plant-derived compounds that have oestrogenic and/or anti-oestrogenic activity. They are constituents of many human foodstuffs but exposure is on the increase due to increasing availability of ‘herbal’ type medicines. The current study was initiated following the identification of large concentrations of lignan related phyto-oestrogen metabolites in the urine from a girl under investigation for precocious puberty.A GC-MS pr...

Introduction: AMH is produced by the sertoli cells in the testes and is responsible for the regression of the Mullerian structures in the male fetus. It is also produced by the granulosa cells of the ovaries in females to a lesser degree. Serum AMH measurements may be important for detecting testicular tissue and monitoring ovarian activity. The objective of this study was to establish a cross-sectional reference range for AMH in UK children.Method: Seru...

BackgroundThere is a need to develop a highly sensitive and reliable immunoassay method for the determination of testosterone concentrations both in children and adults. Testosterone in blood is largely bound to proteins (sex hormone binding globulin and albumin). The unbound fraction of testosterone is considered to be the biologically active hormone which correlates more closely with the physiologically effective level of this hormone. It is postulated...

A 33 year old male was referred with poorly controlled hypertension. He gave no other past medical or family history. Despite therapy with multiple agents blood pressure was poorly controlled at 200/130 mm/Hg. Initial investigations which included renal ultrasound, magnetic resonance angiography and urine catecholamine excretion were all negative. Plasma renin concentration was suppressed (1 mu/ml/L, normal range 5 to 50) and plasma aldosterone was raised at 650 pmol/L (normal...

BACKGROUND: We have previously demonstrated that in weight losing gastrointestinal cancer patients appetite is poor despite low circulating leptin concentrations. One explanation for the apparent inability of these low circulating leptin concentrations to increase appetite might be a decrease in the leptin binding component resulting in high concentrations of 'free' biologically active leptin. The present study was designed to investigate this possibility, furthermore the effe...

Aims: To compare the effect of a standard Sex Steroid Regimen (sSSR) with a physiological SSR (pSSR) on androgen status in young women with premature ovarian failure (POF).Patient Population: Seven women with POF were evaluated for the study. The median age was 28 years (range 21–36) and the median duration of ovarian failure was 14 years (range 4–25).Methods: An open label randomised, controlled, crossover study over 28 ...

Introduction: Covid -19 can cause serious or severe illness in anyone but those with chronic health conditions are at greater risk. Adrenal insufficiency (AI) is assumed to be associated with an increased Covid-19 infection risk, which could trigger an adrenal crisis. We conducted a retrospective study at district general hospital to assess the incidence of COVID-19 in Adrenal insufficiency patients.Method and material: Retrospective review of 43 patient...