Endocrine Abstracts

Background: Although successful pregnancies carried by transgender men have been reported, long-term effects of testosterone therapy on fertility remain unknown.Aims: To study markers of ovarian reserve during testosterone therapy.Methods: Prospective open-label study of transgender men prior and during treatment with testosterone. Sampling was conducted at baseline and 12 months after treatment initiation.Ma...

Introduction: GEP-NETs incidence increased markedly over the past decades probably due to increased imaging. GEP-NETs are generally indolent but often have unpredictable biological behavior and aggressive clinical course.Aims: To collect information regarding demographics, presentation, pathology characteristics, treatment and outcome of GEP-NETs.Methods: Following approval of our institutional ethical board, pathology and clinical...

Introduction: Recent studies suggest that some patients initially diagnosed with congenital hypogonadotropic hypogonadism (CHH), may evolve towards a combined pituitary hormonal deficiency (CPHD). Heterozygous pathogenic CHD7 variants impair neural cell crest guidance causing CHARGE syndrome and have been associated with abnormal pituitary development/function/structure and isolated CHARGE features, including HH. We aimed to genotype CHD7 and phenotype thoroughly those adult p...

Chronically elevated glucocorticoid (GC) level impairs cognition. In rodents, elevated plasma GC levels, prior to an inflammatory challenge, potentiates neuroinflammation that is abolished by GR but not MR antagonism. 11β-hydroxysteroid dehydrogenase type-1 (11β-HSD1) increases intracellular GC levels by regenerating active GCs from inert forms. Inhibition/deficiency of 11β-HSD1 is protective against age-related cognitive decline presumably by lifelong reduced b...

Background: Congenital hyperinsulinism (CHI) can cause severe hypoglycaemia with consequent adverse neurodevelopment. Continuous glucagon infusion (CGI) through intravenous and subcutaneous routes has been utilised to achieve glycaemic stability, but the efficacy has not been reported systematically in a CHI cohort.Aim: We aimed to investigate the efficacy and safety profile of CGI in the management of hypoglycaemia due to CHI.Meth...

The late gestation increase in glucocorticoid action promotes the structural and functional maturation of the fetal heart. Metabolic maturation of cardiomyocytes involves a switch from glucose utilization as a fuel source to fatty acid (FA) oxidation. In fetal cardiomyocytes, glucocorticoids induce expression of PGC1a (a master regulator of mitochondrial capacity), lipin1 and KLF15 (genes involved in FA oxidation). We hypothesized that glucocorticoids promote the metabolic swi...

Specific variations in the human glucocorticoid receptor (GR) gene associate with increased cardiovascular disease risk. GR signalling is essential for cardiac maturation in utero and adult mice with cardiomyocyte and vascular smooth muscle deletion of GR (SMGRKO mice) have cardiac hypertrophy, fibrosis and impaired function. Intriguingly, levels of left ventricle (LV) mRNA encoding the mineralocorticoid receptor (MR), which is pro-fibrotic in heart, rise postnatally ...

From human epidemiological and related studies, there is strong (indirect) evidence that common male reproductive disorders that manifest at birth (cryptorchidism, hypospadias) or in adulthood (low sperm count, low testosterone, primary hypogonadism) may have a common origin in foetal life due to impaired androgen (testosterone) production or action; the so-called testicular dysgenesis syndrome (TDS) hypothesis. Whilst the foetal origin of cryptorchidism and hypospadias is sel...

Acromegaly is a rare condition resulting from excess secretion of GH and IGF1. Acromegaly is frequently associated with subfertility. As such there is little data on the course of the disease during pregnancy, and of the effects of the disease and its treatments on the foetus.Objective: We describe known pregnancies in women with acromegaly within the Republic of Ireland over a 15-year period.Methods: We collected clinical, biochem...

IgG4 related hypophysitis is a recently described entity belonging to the IgG4 related diseases. It is characterised by markedly elevated serum IGG4 levels and tissue infiltration by IgG4 positive plasma cells. To date, 34 cases of IgG4 related hypophysitis have been described but only a handful were in women or biopsy proven. We describe a case of a 58 year old woman who presented with transient headache. She also complained of polyuria and nocturia. She had a thyroidectomy f...