Endocrine Abstracts

Leydig cell tumour (LCT) is a stromal testicular tumour comprising 3% of testicular neoplasms. Metastases are rare, have a poor prognosis and can appear many years after tumour removal. Current therapy for metastatic disease is limited, with no role for radiotherapy and poor efficacy of chemotherapy regimens. About 50–70% of metastatic LCT show associated steroid excess, comprising not only androgens but sometimes steroids physiologically produced in the adrenals. Here we...

Background: The return to active long bone growth in puberty is a distinctly human event1 and occurs ~2 years earlier in girls compared to boys. Evolutionarily conserved networks of genes are associated with the developmental phases of childhood in multiple tissues2, implying the existence of a genetic program that controls the pubertal return to growth.Objectives: To identify biological functions associated with gender and age-rela...

Cushing’s disease presents with multiple symptoms of systemic glucocorticoid (GC) excess including increased skin thinning and poor wound healing (WH). Local GC concentrations are regulated by 11β-hydroxysteroid dehydrogenase (11β-HSD) isozymes converting inactive cortisone/11-dehydrocorticosterone to cortisol/corticosterone (11β-HSD1) or vice versa (11β-HSD2). We previously demonstrated elevated 11β-HSD1 activity during early WH, hypothe...

UVB exposure induces skin damage including dermal atrophy, telangiectasia, fragility and poor wound healing; symptoms also attributable to glucocorticoid (GC) excess (e.g. Cushing’s syndrome). In peripheral tissues including skin, GC availability is regulated by 11β-hydroxysteroid dehydrogenase (11β-HSD) types 1/2 which respectively activate/deactivate cortisol (and rodent corticosterone) from/to cortisone (and rodent 11-dehydrocorticosterone). Although we previ...

Congenital adrenal hyperplasia (CAH) is usually caused by the mutations of steroid 21-hydroxylase gene (CYP21A2). CYP21A2 resides in RCCX copy number variation (CNV), and the genomic structure of RCCX CNV creates difficulties in the genetic testing of CAH. An RCCX CNV allele on one chromosome can carry CYP21A2 in various numbers. Homozygous deletion of complete CYP21A2 results in most severe form of CAH, whereas an additional and intact ...

Introduction: Thyreotropin (TSH) is a glycoprotein containing an alpha-subunit similar to other glycoproteins (LH, FSH, ACTH, HCG) and a unique beta-subunit which reacts with the alpha-subunit in binding to the TSH-receptor. Low TSH levels are usually evidence of primary hyperthyreoidism as in Graves diseases/ toxic goiter or thyroiditis, or a result of secondary hypothyroidism in case of diseases of the pituitary gland. This case shows a rare variant causing apparently low TS...

Introduction: Growth rate tends to be greater in children living at higher latitudes although the underlying mechanisms are unclear. The aim of this study was to compare height velocity (HV) in response to recombinant human GH (r-hGH) therapy in children with GH deficiency (GHD) living at different latitudes.Design: Pre-pubertal children with GHD (n=118) were enrolled from the PREDICT long-term follow-up prospective study (NCT00699855). Data wer...

The presence of pheochromocytoma/paraganglioma can be characterized by typical clinical signs, due to hemodynamic and metabolic activity of circulating catecholamines or less a consequence of other amines or neuropeptides produced simultaneously. But the clinical picture can be also very different and can play a clinical picture of other diseases.The authors present a case report from a patient with retroperitoneal paraganglioma. The patient was admitted...

Immunoglobulin G4-related disease (IgG4-RD) is now a widely recognised multi-organ system disease characterised by elevated serum and tissue concentrations of IgG4. Two forms of thyroid involvement in IgG4-RD have been described, including Reidel’s thyroiditis (IgG4-related thyroid disease) and the fibrous variant of Hashimoto’s thyroiditis.Objective: To describe a case of the development of massive neck fibrosis and mediastinal fibrosis in a p...

A 55 year-old man was brought to the emergency room because of hypotension, fatigue, fever and pain in the left shoulder. The blood glucose, sodium, potassium levels were normal. ECG showed 65/min sinus rhythm with negative T waves in the precordial leads. Blood pressure was 70/50 mmHg. Suddenly torsade des pointes occurred, which was converted to sinus rhythm with 300 mg amiodarone. Coronarography showed no significant stenosis on epicardial coronaries. During the interventio...