Endocrine Abstracts

Strictly speaking, the diagnosis of idiopathic short stature (ISS) can only be made after exclusion of all known causes of growth failure, but for pragmatic and financial reasons there are limits to the investigations that can be carried out. Clinical algorithms can assist decisions on genetic testing. Testing for SHOX is indicated if there are signs of Leri-Weill syndrome, including Madelung deformity, short forearm and lower legs. Short upper arms and legs should lead to tes...

The search for eternal youth has created a market for treatments that might affect the process of aging, and testosterone (T) is one of the hormones that have been in focus. It is well accepted that T levels decline with increasing age, although the individual variation is large. Male hypogonadism is characterised by a low serum T level in combination with a diversity of symptoms and signs such as reduced libido and vitality, decreased muscle mass, increased fat mass and depre...

TH are derived from the iodinated amino acid tyrosine and coupled to their typical diphenylether structure. Metabolic modifications of TH lead to activation, inactivation or novel quality not exerted by the parent molecule L-T4. Phenolic-5′-(outer) and tyrosyl-3′-(inner ring) deiodination are well known metabolic pathways. Activating 5′deiodination of T4 to T3 is catalysed by two distinct DIO1 and DIO2 selenoproteins, with dis...

Fetal brain development depends on thyroid hormone and children born to mothers with low thyroid hormone levels have decreased cognitive function. Nineteen per cent of children born to mothers known to have a high TSH during gestation had an IQ <80 compared to 5% of children born to mothers known to have normal TSH levels in pregnancy (P<0.001; Haddow et al. 1999).We conducted a randomized trial of antenatal hypothyroidism screening...

All secretory cells of the anterior and intermediate pituitary derive from the oral ectoderm that forms Rathke’s pouch. Pituitary progenitors present in the pouch as well as similar progenitor/stem cells that remain along the cleft of the adult gland, are marked by expression of Sox2. Sox2-positive progenitors can self-replicate or enter differentiation. Before any differentiation marker is expressed, progenitors first exit the cell cycle under the control of the cell cyc...

FGF23 secretion is increased in response to 1,25(OH)2 vitaminD3 (1,25D) and an oral phosphorus (P) load. Patients with chronic kidney disease (CKD) are unable to excrete their dietary P which contributes to an increased secretion of the two major phosphaturic hormones, PTH and FGF23. The increased FGF23 would normally bind to its receptor, klotho-FGFR1 in the renal tubules to increase P clearance and decrease the synthesis of 1,25D. Increased FGF23, P and PTH levels are all as...

The characteristics of Cushing’s syndrome (CS) pathophysiology, the heterogeneity of its clinical presentation and the different patterns of ACTH and cortisol secretion independently of the cause make the diagnosis of ACTH-dependent CS a difficult task in some cases. Clinical symptoms are not always specific enough to establish the diagnosis. 1 mg DEX suppression is one of the most used tests for CS screening. Nocturnal salivary cortisol may be used, but its accuracy has ...

Patients with endocrine-related cancers are notably at increased risk for developing osteoporosis as a complication from their adjuvant anticancer treatment, especially aromatase inhibitors (AIs) in early breast cancer (EBC) and androgen deprivation therapy (ADT) in early prostate cancer (EPC). AI-induced bone loss (AIIBL) occurs at a rate at least 2-fold higher than bone loss seen in healthy, age-matched postmenopausal women and they have a more than 30% higher risk of fractu...

Normal position of the testes at term birth is on the bottom of the scrotum. In 2–9% of newborn boys, the testes have failed to descend normally (cryptorchidism), and at the age of three months, 1–3% of all boys remain cryptorchid. Thereafter spontaneous descent occurs rarely, whereas testicular ascent starts to appear and acquired cryptorchidism becomes a problem almost as often as congenital disorder. Cryptorchidism is associated with an increased risk of testicula...

The thyroid hormone receptor (TR) belongs to a family of transcription factors which activity is modulated by the presence or absence of their particular ligand. Additionally, the transcriptional activity of TR is modulated by post-translational modifications such as phosphorylation, acetylation or ubiquitination. Here, I investigate whether TR might also be regulated by sumoylation. Sumoylation of transcription factors at defined lysine residues often leads to an alteration o...