Endocrine Abstracts

Pituitary gigantism occurs due to hypersecretion of GH and insulin-like growth factor-1 (IGF-1) in children and adolescents before the closure of epiphyseal growth plates. This hormonal disorder is usually due to an adenoma or hyperplasia of the anterior pituitary gland and like other tumoral conditions in children often has a genetic background. Recently we demonstrated that a genetic predisposition is present in just under half of cases of pituitary gigantism. The best recog...

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...

Pituitary adenomas (PAs) are benign neoplasms that comprise 10–20% of all intracranial tumors. Mutations in the aryl hydrocarbon receptor interacting protein (AIP) have been identified to cause a small subset of hereditary PAs. To study the mechanisms of tumor formation in patients with AIP-mutated PAs we conducted a miRNA array analysis comparing AIP-mutated PAs with AIP-wild type PAs. We found a novel and specific set of miRNAs differentially expressed between the two g...

GPR101 is an orphan G-protein coupled receptor with unknown ligand. In 2014, an international study clearly pointed to a strong association between this receptor and the X-linked acrogigantism (X-LAG) syndrome, which begins in childhood and causes the “tallest giants”. The children (carriers of the GPR101 duplication on the X chromosome) grow abnormally even before they are one year old, secrete phenomenal quantities of growth hormone, and develop pituitary adenomas ...

Germline AIP mutations (AIPmut) predispose to young onset somatotroph pituitary adenomas (GHPA) and gigantism. AIPmut GHPA are often aggressive and resistant to pharmacological treatment, which may be especially challenging in the paediatric setting. We report our experience with two young Italian AIPmut male patients with incipient gigantism due to childhood pituitary macroadenomas, who both experienced recurrent ...

Familial acromegaly (FA) is a rare disease with less than 150 cases published. For its diagnosis (FA), two or more cases of acromegaly in the same family and the absence of MEN1 and/or Carney syndrome are required. FA is in the familial isolated pituitary adenomas (FIPA) group although its genetic condition is still under investigation.The index case is an asymptomatic 43-year-old woman with a 4mm pituitary micro-adenoma. There were not acromegaly signs/...

Introduction: Parathyroid carcinoma (PCa) is a rare presentation of primary hyperparathyroidism (PHPT), accounting for less than 1% of cases. Differentiating parathyroid cancer from benign hyperparathyroidism is clinically challenging. Some previous work suggest that there is a paraneoplastic hCG production in parathyroid cancer (Stock et al 1987, Rubin et al 2008). In this study, we aimed to investigate whether the hCG+β kit from Roche Diagnostics could distinguish PCa p...