Endocrine Abstracts

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: 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...

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...

Introduction: Chromosome Xq26.3 microduplications have recently been identified, and explained this 11-year-old girl’s marked tall stature. Her severe phenotype illustrates X-linked acrogigantism (X-LAG) and demonstrates therapeutic benefit from growth hormone receptor blockade.Case: A 5.6-year-old girl presented with growth acceleration from 3 years and appearance of secondary dentition, greasy skin and blackheads from age 4. Past medical and famil...

Endocan has been reported as specific of endothelial tumor cells and was shown to be expressed by tip cells during angiogenesis process.The principal aims of the study are the assessment of immunohistochemical VEGF and Endocan expression in functioning and non functioning pNETs and the comparison of these markers with clinical features, Ki67 and TNM staging.We collected a total number of 79 pNETs surgical specimens for immunohistoc...

Pasireotide, a multireceptor-targeted somatostatin analogue, was approved for the treatment of acromegaly, after being studied in two large, randomised, multi-center clinical trials. We reported the history of a 76 years old man affected by acromegaly, treated with Pasireotide long acting release (LAR) as first line therapy. Acromegaly was diagnosed in 2009, as the result of endocrinological investigation suggested by altered facial appearance and macroglossia. Hormonal assays...

Introduction: Mutations in the aryl hydrocarbon receptor-interaction protein (AIP) gene predisposes to growth hormone or prolactin secretin adenomas, usually, manifesting before the age of 30 years old. There are 834 variants of the AIP reported in the GnomAD database and over 100 variants have been described in patients with pituitary adenomas. While the pathogenic role of variants resulting in truncated protein is beyond doubt, determination of the clinical...

Introduction: In 2004, the WHO defined atypical pituitary adenomas (APAs) those with Ki-67 >3%, excessive p53 expression and increased mitotic activity. The usefulness of this classification is still controversial.Aim: To compare the clinical and prognostic features in a series of typical and atypical pituitary adenomas.Materials and methods: We retrospectively reviewed 343 consecutive PAs. APAs represented 18.7% of the cases. ...

Aim: To evaluate calcium and bone metabolism in a monocentric series of acromegaly patients (pts), treated with pegvisomant (PEG) alone or in association to long acting somatostatine analogs.Patients and methods: All pts with at least 24 consecutive months PEG treatment (alone or in combination with SSA) were enrolled. All pts had been tested at least twice/year for biochemical acromegaly-disease evaluation and annually for calcium metabolism and for bon...

Background and objective: Atypical pituitary adenomas (APA), in 2004, were defined according to WHO classification, as those with Ki-67>3%, excessive p53 expression and increased mitotic activity and invasive behaviour. The real usefulness of this classification is still controversial, so we reviewed compared clinical and prognostic features in our typical and atypical pituitary adenomas.Patients and methods: We retrospectively reviewed 343 consecuti...