Endocrine Abstracts

There are a number of established and recently identified inherited or congenital forms of growth hormone (GH) secreting pituitary tumors. These may be caused by an abnormality in the genetic sequence of responsible genes including MEN1, AIP, CDKN1B, and PRKAR1A. Copy number variation for these and other genes may also contribute to pituitary tumorigenesis, such as duplication of the gene GPR101 in X-linked acrogigantism (X-LAG) syn...

‘Je résolus de m’informer du pourquoi, et de transformer ma volupté en connaissance’ Baudelaire.One of the great blessings in life is to be able to work at something that inspires and interests you. For me, exploration of the diseases caused by abnormal neuroendocrine function has been my passion. Its complexity and interlinked nature can be both startlingly confusing and, when better understood, remarkably logical. But above all...

Genetic predisposition to pituitary adenomas is increasingly recognized and extends beyond diseases such as MEN1 and Carney complex to familial isolated pituitary adenomas (FIPA). A genetic predisposition occurs in >5% of all pituitary adenoma cases, with MEN1 and FIPA comprising the vast majority of these. The identification of the AIP gene as a predisposition gene for pituitary adenomas in 15–25% of FIPA kindreds and in a significant number of young patients ...

Inherited genetic conditions associated with pituitary tumours include multiple endocrine neoplasia type I (MEN-I) and Carney complex. Pituitary tumours that occur in the setting of MEN-I and Carney complex have specific clinical characteristics in terms of severity, which can help to guide clinical management. In 2000, we reported the first series of 27 patients with FIPA. Later on, the number of FIPA families has increased to more than 130 today.In 200...

Introduction: Clinical research studies over the last 15 years have reported a significant burden of hypopituitarism in survivors of traumatic brain injury (TBI). However, these endocrine anomalies remain underdiagnosed.Patients and methods: We are studying data from a series of 75 TBI patients. They had a basal hormonal test, and dynamic confirmation tests if necessary. Somatotropic deficiency was defined by growth hormone (GH) remaining under 3 μg...

Poor hormonal and tumour responses to somatostatin analogues (SSA) in acromegaly can occur although the aetiology is often unclear. Two genetic syndromes are associated with relative SSA resistance: acromegaly due to AIP mutations (AIPmut) and the newly described X-linked acrogigantism (X-LAG) syndrome due to chromosome Xq26.3 microduplications. We studied whether SSA resistance in these conditions was related to somatostatin receptor (SSTR) levels in tumour tissues. We studie...

Familial hypocalciuric hypercalcaemia (FHH) is a characteristically asymptomatic condition that is caused principally by calcium sensing receptor gene (CASR) mutations and less frequently by GNA11 or AP2S1 mutations. We report a case of recurrent symptomatic pancreatitis in an FHH patient. The 17-year-old patient was hospitalized with abdominal pain and raised pancreatic enzymes due to acute pancreatitis. The only predisposing factor on investigation was a very elevated serum ...

Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) predispose to pituitary adenomas in young patients, often presenting as familial isolated pituitary adenoma (FIPA) kindreds. Pituitary adenomas in patients with AIP mutations (AIPmut) are usually somatotropinomas, which are more aggressive and have poorer responses to somatostatin analogues than their non-mutated counterparts. Given the rarity of this condition, the molecular pathogenesis of the...

Introduction: Generously supported by IPSEN)-->Craniopharyngiomas (CP) are benign tumors that arise from remnants of the Rathke’s pouch. Classically, they are classified as cystic or calcified tumors. The presence of hormonal receptors in CP has been reported in in vitro studies but only eight cases growing during pregnancy have been published in literature.Case report: We report a 32-year-old wom...

Object: Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that are responsible for an inappropriate production of catecholamines. They are heritable in 40% of cases and can integrate different genetic syndroms. Thus, there are several interests to detect them precociously: avoid comorbidities due to the catecholamine hypersecretion, search syndroms and manage their related manifestations and screen the families. The objectives of this study were to separate PPGLs in...