Searchable abstracts of presentations at key conferences in endocrinology

ea0032p646 | Male reproduction | ECE2013

Androgen levels and sexual activity in young men (n=773), 20–29 years of age, a population based study. Odense Androgen Study

Magnussen Line Velling , Nielsen Torben Leo , Glintborg Dorte , Hagen Claus , Andersen Marianne

Introduction: Low androgen levels are associated with decreased sexual activity. However, to our knowledge no population based study has evaluated the association between androgen levels and sexual activity in young men.Aim: To evaluate associations between androgen levels and sexual activity in young men.Design: Seven hundred and seventy-three Danish men, aged 20–29 years, underwent clinical and biochemical examination: Total...

ea0031p145 | Growth and development | SFEBES2013

Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population

Howard Sasha , Barnes Michael , Storr Helen , Wehkalampi Karoliina , Metherell Lou , Dunkel Leo

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...

ea0030p1 | (1) | BSPED2012

A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with familial glucocorticoid deficiency

Kowalczyk Julia , Meimaridou Eirini , Guasti Leo , Clark Adrian J L , Metherell Lou A

Familial glucocorticoid deficiency is an autosomal recessive disorder characterised by resistance to ACTH of the adrenal cortex, leading to isolated glucocorticoid deficiency and life-threatening hypoglycaemia. Half of all cases are caused by mutations in MC2R, MRAP, MCM4 or STAR. Recent work in our group has identified defects in nicotinamide nucleotide transhydrogenase (NNT) to be causal in a further 10% of cases. NNT generates the high con...

ea0029p344 | Clinical case reports - Pituitary/Adrenal | ICEECE2012

Reactivation of Takayasu arteritis in two patients with Cushing’s disease after normalization of cortisol secretion.

Simeoli C. , Cozzolino A. , Leo MDe , Iacuaniello D. , Vitale P. , Grasso L. , Triggiani M. , Colao A. , Pivonello R.

Introduction: The reactivation of autoimmune disorders has been described in patients with hypercortisolism after normalization of cortisol secretion. This phenomenon is probably related to the loss of immunosuppressive effect of endogenous glucocorticoids. This is a report of two patients with Takayasu arteritis (TA) and Cushing’s disease (CD), a novel association never described in literature, in whom TA was exacerbated after normalization of cortisol secretion.<p c...

ea0029p1848 | Thyroid cancer | ICEECE2012

Radioiodine ablation can be avoided in intrathyroidal papillary thyroid cancers ≤2 cm (pT1N0M0)

Perrino M. , Colombo C. , De Leo S. , Vicentini L. , Beck-Peccoz P. , Fugazzola L.

The need for thyroid residue ablation in papillary thyroid cancer (PTC), classified with the TNM staging (AJCC, 2002) as pT1, with a maximum diameter comprised between 1 and 2 cm (pT1/1-2) and/or multifocal, is still debated. Aim of this study was to compare the outcome of pT1N0M0 patients submitted or not to postsurgical radioiodine ablation. Consecutive patients followed-up at this Institution from 1996 to 2010 were enrolled. All pT1/1-2N0M0 cases were radioiodine ablated be...

ea0026p22 | Adrenal cortex | ECE2011

Cardiac structure and function in patients with adrenal incidentaloma with and without subclinical Cushing’s syndrome

De Leo M , Galderisi M , Cozzolino A , Simeoli C , Vitale P , Raia R , Colao A , Pivonello R

Hypercortisolism has been reported to affect cardiac structure and performance. Subclinical Cushing’s syndrome (SCS) is increasingly being reported in incidentally discovered adrenal tumors; its hallmark is a mild autonomous cortisol hypersecretion without specific clinical syndrome of glucocorticoid excess. The aim of this study was to compare cardiac structure and function in patients with adrenal incidentaloma. Thirty patients (10 men, 15 women, 32–74 years) and 3...

ea0026p26 | Adrenal cortex | ECE2011

Predictive value of acute cortisol response to cabergoline administration on the responsiveness of cortisol secretion to short and long term treatment with cabergoline

Vitale P , Cozzolino A , De Leo M , Simeoli C , Galdiero M , Lombardi G , Colao A , Pivonello R

Cabergoline (CAB), a potent dopamine agonist, is one of the most effective neuromodulatory drug in the second line treatment of patients with Cushing’s disease (CD). The aim of the current study was to estimate the predictive value of the acute CAB administration on short and long term responsiveness to CAB treatment. Twenty CD patients (6 males, 14 females, 12–60 years) entered the study. The acute CAB test was performed evaluating serum cortisol every hour for 6 h ...

ea0025s5.2 | The novel role of primary cilia in endocrine disease and obesity | SFEBES2011

Sonic hedgehog signalling and primary cilia in the adrenal

Cogger Katy , Guasti Leo , Banu Zahida , Beales Phil , Paul Alex , Laufer Ed , King Peter

The adrenogonadal primordium develops from a thickening of the coelomic epithelium covering the urogenital ridge. After segregation of the primordium into the bipotential gonad and the adrenocortical primordium, the cortex is encapsulated by mesenchymal cells and infiltrated by migrating sympathoadrenal cells, which form the medulla. We have shown that the cell fate regulator sonic hedgehog (Shh) is not required for the formation of the adrenocortical primordium but is require...

ea0016p70 | Bone and calcium | ECE2008

Birth weight and the relation to lean body mass and BMC in healthy men at peak bone mass: results from the Odense Androgen Study

Frederiksen Louise , Nielsen Torben Leo , Wraae Kristian , Hagen Claus , Andersen Marianne , Brixen Kim

Background: Birth weight has been associated with low bone mass in later life. Previous studies, however, have relied on self-reported data on birth weight, included select populations, or been of a limited size. Moreover, it is unclear if the association between birth weight and bone mass is be mediated by body weight, lean body mass, or fat mass.Aim: We hypothesize that birth weight is associated with peak bone mass in men independent of current lean b...

ea0014oc4.7 | Neuroendocriology basis | ECE2007

Function and evolution of GHRH, PACAP and PRP in vertebrates

Chow Billy KC , Siu Francis KY , Tam Janice KV , Lee Leo TO

In mammals, GHRH is the most important neuroendocrine factor that stimulates the release of GH from the anterior pituitary. In non-mammalian vertebrates, however, the previously named GHRH-like peptides were unable to demonstrate robust GH-releasing activities. In this report, we provide evidence that these GHRH-like peptides are homologues of mammalian PACAP-related peptides (PRP). Instead, GHRH peptides encoded in cDNAs isolated from goldfish, zebrafish and African clawed fr...