Searchable abstracts of presentations at key conferences in endocrinology

ea0013oc1 | Steroid synthesis and action | SFEBES2007

Monogenic polycystic ovary syndrome (PCOS) due to novel mutations in the H6PD gene - apparent cortisone reductase deficiency (ACRD)

Slabbert Ana , Lavery Gareth , Connell John , Walker Elizabeth , Stewart Paul

ACRD presents with clinical features of hyperandrogenism in females similar to those of PCOS (acne, hirsutism, oligomenorrhea, infertility), and precocious puberty in males. Obesity also occurs in some cases. Increased cortisol clearance leads to an increased hypothalamic-pituitary-adrenal axis drive resulting in elevated serum androgen levels and a decreased urinary cortisol metabolite: cortisone metabolite ratio below 0.5 (normal adult range 0.7–1.3). These observations...

ea0013oc21 | Novartis Basic Endocrinology Award | SFEBES2007

Muscle cell differentiation is regulated by glucocorticoids, a process which is potentiated through the induction of 11 beta-hydroxysteroid dehydrogenase type 1 (11β-HSD1)

Sherlock Mark , Lavery Gareth , Horsburgh Jenny , Slabbert Ana , Toogood Andy , Stewart Paul

In vivo the 11β-HSD1 enzyme converts inactive cortisone to the active glucocorticoid cortisol. 11β-HSD1 is implicated in the metabolic syndrome through its expression in liver and adipose tissue by increasing local cortisol concentrations. However, little is known regarding the expression and function of 11β-HSD1 in muscle.Murine C2C12 muscle cells (myocytes) were differentiated from myoblasts to myotubules for 8 days, with and without the...

ea0015p320 | Steroids | SFEBES2008

Differential effects of glucocorticoids on fibroblasts: mechanisms underlying the adverse features of Cushing’s

Hardy Rowan , Augustine Dona , Kaur Kirren , Slabbert Ana , Raza Karim , Buckley Chris , Stewart Paul , Rabbitt Elizabeth , Cooper Mark

High dose glucocorticoids are effective in suppressing inflammatory synovitis but have adverse effects on other connective tissues. In inflammatory arthritis glucocorticoids suppress the capacity of synovial fibroblasts (SFs) to recruit leukocytes to the joint whereas poor skin healing is due to impaired dermal fibroblast (DF) function. It is unknown whether these clinical differences are due to similar or distinct effects of glucocorticoids on fibroblast function.<p class...