Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling
pathway are historically classified under the term pseudohypoparathyroidism (PHP), which …

Hyperprolactinaemia is characterised by gonadal dysfunction, including infertility and
reduced libido and, if left untreated, is associated with an increased risk of long-term …

Over the last 5 years, new actors involved in the pathogenesis of combined pituitary
hormone deficiency in humans have been reported: they included a member of the …

Context: AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs
in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and …

Context: An association between germline aryl hydrocarbon receptor-interacting protein
(AIP) gene mutations and pituitary adenomas was recently shown. Objective: The objective …

Approximately 40% of growth hormone–secreting pituitary adenomas have somatic
mutations in the GNAS1 gene (the so-called gsp oncogene). These mutations at codon 201 …

Background Increased secretion of growth hormone leads to gigantism in children and
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …

The phenotypic heterogeneity of low-grade gliomas (LGGs) is still inconsistently explained
by known molecular abnormalities in patients treated according to the present standards of …

Cyclooxygenase-2 (COX-2) is associated with breast tumour progression. Clinical and
molecular studies implicate human epidermal growth factor receptor 2 (HER2) in the …

Context Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP)
have been identified in young patients (age≤ 30 years old) with sporadic pituitary …