Endocrine Abstracts

Background: Recently, germline mutations in the aryl-hydrocarbon-receptor-interacting-protein (AIP) gene have been found to occur in familial and sometimes in early onset sporadic somatotroph adenomas. These tumours tend to respond less well to somatostatin analogues (SSA). It has been shown previously that AIP can upregulate the transcription factor Zac1 in liver cells, and we were able to also demonstrate this in pituitary cells. On the other hand, Zac1 is upregulated in res...

The tumour suppressor menin, encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, has been reported to be a component of the Wnt/β-catenin signalling pathway. To investigate the effects of menin loss on this pathway, we have determined the cDNA expression profiles of pituitary tumours from 5 Men1+/− mice and in normal pituitaries from 5 Men1+/+ littermates by extracting total RNA and by hybridizing it to Affymetrix Mous...

Primary hyperaldosteronism usually results from an aldosterone-secreting adenoma of the adrenal cortex (Conn’s adenoma) or bilateral adrenal hyperplasia. Identification of the anatomical adrenal lesion causing hyperaldosteronism typically involves CT or MR scanning, with lateralisation of aldosterone production confirmed by adrenal vein sampling (AVS). The latter is a technically difficult and invasive procedure, but current non-invasive alternatives (e.g. radiolabelled i...

Mutations in the co-chaperone molecule AIP account for a predisposition to pituitary tumours in some families with familial isolated pituitary adenomas (FIPA). We now report on four apparently-unrelated families with the same mutation and originating from the same geographical area, suggesting a possible founder mutation.The index patient had gigantism (19 years, 208 cm) and had a female 4th cousin, once removed (13 years, 191 cm) with a large pituitary ...

In mammals, the preovulatory LH surge is thought to be triggered by enhanced release of GnRH into the hypothalamic–pituitary portal blood vessels. Recently, we discovered that the medial basal hypothalamus (MBH) of rhesus macaques (Macaca mulatta) contains two distinct populations of GnRH-producing neurones. One of these populations expresses the traditional mammalian form of GnRH (i.e. GnRH-I) while the other expresses a more conserved vertebrate form of GnRH (i.e...

The development and maturation of kisspeptin neurons is critical for activating GnRH release needed to initiate puberty. However, little is known of the development and organization of kisspeptin neurons in the human hypothalamus and the anatomical architecture of kisspeptin neurons in rodents is distinct from that of primates.The aim of the present study was to examine the development of the hypothalamic neuroendocrine circuitry that sets the structural...

: Hyperinsulinaemic hypoglycaemia (HH) has traditionally been classified according to clinical response to diazoxide, with milder diazoxide responsive (DRHH) and severe unresponsive cases. Loss-of-function mutations in ATP-sensitive potassium (KATP) channel genes (ABCC8 and KCNJ11), are the commonest cause for HH. In severe HH, genetic analysis and pancreatic imaging assist in differentiating diffuse from focal forms of HH, as the latter may be cured b...

Objective: To review the diagnostic features and localization accuracy of different investigations for insulinomas diagnosed 1990–2009 at a single tertiary referral centre.Design: A cross-sectional, restrospective analysis, including sporadic tumours and those in multiple endocrine neoplasia syndromes.Methods: Case notes and investigation results were reviewed from patients with biochemically or histologically-proven insulinom...