Endocrine Abstracts

Armour thyroid (Armour) is unlicensed in the UK for the treatment of hypothyroidism. It is natural porcine-derived thyroid replacement with 1 grain containing 38 mcg levothyroxine (T4) and 9 mcg L-triiodothyronine (T3), and unspecified amounts of T1, T2 and calcitonin. We have used Armour as a third line agent in selected patients who have not responded adequately to T4 monotherapy, and combination T4/T3 therapy since 2003.Aim: To assess c...

A 64-year-old man presented with mild biochemical hyperthyroidism – TSH <0.01 mU/l (NR 0.35–4.90), FT4 19.4 pmol/l (NR 9–19) in 2005. He was treated by his general practitioner with a 9 months course of carbimazole. Six months later, TSH became suppressed (0.05 mU/l) but with a normal fT4 (17 pmol/l). He was referred to a ‘One-Stop’ Thyroid Clinic and was seen there 3 months later. Thyroid isotope scan showed a toxic multinodular goitre. He was tre...

Objectives: Abnormal pubertal timing affects >4% of adolescents and is associated with adverse health outcomes. Up to 80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority the neuroendocrine pathophysiology and genetic regulation remain unclear. Mis-regulation of the embryonic migration of GnRH neurons has been implicated in the pathogenesis of DP (Howar...

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition caused by enzyme deficiency in cortisol biosynthesis. Patients with CAH require lifelong therapy, with the aim of replacing deficient hormones (cortisol +/− aldosterone) and reducing excess androgen production. Guidelines state that the lowest effective glucocorticoid (GC dose) should be used; however, current GC therapy is suboptimal, and supraphysiological GC doses are used to reduce excess androgens....

Reproductive timing strongly influences the fitness of the individual. While most vertebrates rely on photoperiodic changes to induce seasonal reproduction, the arctic ground squirrel (AGS) naturally undergoes reproductive maturation in a photoperiod-independent manner. In addition, males spontaneously activate their reproductive axis during hibernation, but the timing of reproduction is sensitive to external cues. We are using electron microscopy to examine, define, and measu...

Objectives: Several different pathogenic mechanisms may converge on a final common pathway to produce the phenotype of delayed pubertal timing. Abnormal pubertal timing affects >4% of adolescents and is associated with adverse health outcomes. Up to 80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority the neuroendocrine pathophysiology and genetic regul...

Background: Disturbances of pubertal timing affect >4% of the population and are associated with adverse health outcomes. Studies estimate 60–80% of variation in pubertal onset is genetically determined, but few genetic factors are known. We hypothesise that causal variants will be low-frequency, intermediate-impact variants and will be enriched in populations at the extremes of normal pubertal timing. Families with constitutional delay in growth and puberty (CDGP) ha...

Background: Pubertal timing has importance both for the individual, but also for public health. Previous studies estimate that 60–80% of variation in pubertal onset is genetically determined. Recently, a large genome-wide association study (GWAS) meta-analysis identified 42 loci for age-at-menarche (AAM), which explained 3.6–6.1% of the variation in the general population, but causal genes have not been identified.CDGP is defined as pubertal on...

Introduction: Lithium-induced nephrogenic diabetes insipidus (NDI) occurs in approximately 20% of patients on chronic lithium therapy, and additionally 30% of patients have impaired concentrating ability of urine. Perioperative precipitation of NDI is an uncommon phenomenon complicating fluid management in a surgical patient and masking signs of renal hypoperfusion.Case: A 70-year-old man on chronic lithium therapy for bipolar disorder presented with 24 ...

Background: Body Mass Index (BMI) and waist circumference (WC) are currently used to assess obesity. BMI and WC do not take into account fat/muscle distribution or allow for distinctions between gender, age or ethnicity. WC reflects abdominal fat distribution more accurately, but is operator-dependant and variable in terms of reproducibility. BVI is a totally new, reproducible and novel concept using a 3D body scanner and appropriate software, to measure total body and 8 body ...