Endocrine Abstracts

Polycystic ovary syndrome is the commonest cause of anovulation. The mechanism of the aberrant follicle development that is associated with anovulation remains unclear. However, data from human studies and from animal models of PCOS suggest that excess androgen production, the biochemical hallmark of PCOS, has a role in disordered follicle development. The aim of this study was to examine the direct effect of androgens on isolated mouse preantral follicles in culture. Multilay...

Background: Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome is an autosomal recessive disorder due mutations in SLC29A3. SLC29A3 encodes for an equilibrative nucleoside transporter 3 (ENT 3). A hallmark of PHID syndrome is the chronic inflammation characterised by the persistently raised erythrocyte sedimentation rate and C-reactive protein. A key pathway involved in triggering inflammation is the nuclear factor kappa β (N...

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...

Thyroid cancer is the most prevalent cancer among endocrine malignancies. Surgical resection combined with radioactive iodine therapy has been proved effective in treating differentiated thyroid cancer, including papillary and follicular thyroid cancers. However, regarding metastatic poorly differentiated or anaplastic thyroid cancers, there have been no available effective treatment modalities. The genomic instability, such as chromosome aneupolidy, represents a hallmark of s...

Introduction: Severe hypocalcemia is a life threatening condition, usually symptomatic with cardiovascular and neuromuscular manifestations. Varying clinical presentations and concomitant infections, however, might obscure the right diagnosis, delaying early treatment.Case: A 51-year-old African male presents himself at the emergency department (ED) with complaints of a soar throat, a productive cough and a striking pinched voice. Investigation revealed ...

Medullary thyroid cancers (MTC) account for about 5% of thyroid cancers. The biochemical hallmark of MTC is the secretion of calcitonin (CT). CT levels are both a key feature of pre-operative diagnosis and post-operative follow up. CT screening in a cohort of over 10 000 patients with thyroid nodular disease has demonstrated that a positive CT test has a higher diagnostic sensitivity and specificity for MTC than fine needle aspiration (FNA). They may also secrete carcinoembryo...

Osteoclasts are derived from macrophagic/monocytic lineage cells and represent differentiated, multinucleated cells specialized in resorbing bone. An increased number and activity of osteoclasts is the hallmark of various bone diseases, including osteoporosis, rheumatoid arthritis, and skeletal metastases. Recently, receptor activator of nuclear factor-κB ligand (RANKL) has been identified as the stem cell factor for osteoclasts. RANKL promotes osteoclast formation, funct...

Background: Hypophosphatasia (HPP) is characterized by low serum alkaline phosphatase (S-AP) activity due to loss-of function mutations in the ALPL gene. A hallmark of adult HPP is painful, slowly healing metatarsal and femur stress fractures. There is no treatment for the disease but beneficial effects of parathyroid hormone (PTH) treatment was previously demonstrated in one patient. It is unclear how parathyroid hormone (PTH) can stimulate S-AP despite loss-of functio...

Diabetes is the major health care problem in developing countries like India. According to WHO survey total number of diabetics patients in India alone is 3.2 cores with fastest growing population of diabetics. This is not a single disease, rather a group of disorders associated with rearrangement in carbohydrate, protein and fat metabolism.Diabetes is characterized by the elevation of blood glucose level resulting from defects in insulin secretion or ac...

Androgen excess is a key feature of the polycystic ovary syndrome (PCOS), which affects 5–10% of the female population and comes with a significantly increased metabolic risk. Rare disorders often teach us important lessons about common disease and this is highlighted by two novel variants of congenital adrenal hyperplasia we recently identified.In 1985, a patient with combined deficiencies of 17-hydroxylase and 21-hydroxylase was reported. However,...