Endocrine Abstracts

Introduction: In children, tumours occupying the pituitary fossa are mainly craniopharyngioma (80–90%) and pituitary adenomas (2–3%). We present two cases of pituitary adenoma and the challenging management when complete surgical resection is not possible. Case 1: A 13.5 year old girl presented with tall stature. Pituitary hormone profile revealed high IGF1 123 nmol/l (24.5–66) and prolactin 722 mU/l (102–496). Growth hormone (GH) was not completely suppres...

Introduction: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) predispose humans to pituitary adenomas, mostly GH and sometimes prolactin-secreting adenomas. Rodent models of heterozygous AIP loss provided mixed results, with little phenotype in heterozygote global knockouts to 80% in somatotroph-specific homozygote knockout animals. However, human patients with an AIP mutation often have mixed GH-PRL adenomas and, in a smaller pr...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) predispose humans to pituitary adenomas, mostly GH and sometimes prolactin-secreting adenomas. Rodent models of heterozygous AIP loss provided mixed results, with little phenotype in heterozygote global knockouts to 80% in somatotroph-specific homozygote knockout animals. However, human patients with an AIP mutation often have mixed GH-PRL adenomas and, in a smaller pr...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Aryl hydrocarbon receptor interacting protein (AIP) is a multifunctional co-chaperone protein: it behaves as a tumour suppressor in the pituitary, but may have other roles including oncogenic function in other tissues. Protein phosphorylation is an important posttranslational modification that regulates protein activity, which is crucial for understanding protein function. To understand the molecular pathways altered in AIP deficient cells, we have performed glob...

Background: Aryl hydrocarbon receptor-interacting protein (AIP) has been identified as a tumour suppressor gene in pituitary gland, causing 10% of all familial isolated pituitary adenoma. Patients with heterozygous loss-of-function germline mutation of AIP develop young-onset growth hormone and/or prolactin-secreting pituitary tumours. Homozygous loss of AIP leads to embryonic lethality in several animal models (mouse, fruit fly, round worm). Mouse e...

Background: Gigantism is a rare condition with accelerated growth in childhood when the epiphyseal plates are not fused. Most cases are due to growth hormone (GH) secretion from a pituitary adenoma. Rarer causes of GH-related gigantism include somatotroph hyperplasia as part of McCune-Albright syndrome, Carney complex, X-linked acrogigantism or ectopic GHRH production.Case presentation: An 18-year-old male with c.249_252delGTCT;p.I85Sfs MEN1 mut...

Aim: The aim of investigation to study of the features of the Cushing’s subclinical syndrome in women (CS) with metabolic syndrome (MS)Material and methods: Under our supervision in the Department of neuroendocrinology of the Center of Endocrinology of MPH out-patient clinics with primary or secondary infertility in the period from September 2015 to July 2016 were examined 120 patients of childbearing age with metabolic syndrome in polycystic ovary ...

Background: Patients with heterozygote germline mutations in the aryl-hydrocarbon receptor interacting protein (AIP) gene (AIPpos) develop often aggressively growing tumours in early teenage years. The mechanism of this behaviour is not clear.Aim: The role of the microenvironment in the invasive phenotype of AIPpos pituitary tumours.Methods and results: We established that AIPpos GH-secreting tumours are infiltrated by a large numb...