Endocrine Abstracts

Introduction: Auto-immune polyglandular syndrome type 2 (APS-II) is an autoimmune condition which combines Addison’s disease (primary adrenal insufficiency) with another autoimmune pathology like thyroiditis, diabete mellitus, primary hypogonadism, vitiligo, Biermer anemia, etc. Patients can develop those pathologies concurrently or many years after the first manifestation. Prevalence of APS-II is 1 or 2 cases/100.000/year and the sex ratio is 3 women for 1 man. Genetic t...

Introduction: Increased B12 deficiency among T2DM patients using metformin has been reported. Holotranscobalamin (HoloTc), the bioactive form of B12, is proposed as a specific and sensitive marker of B12 deficiency. Methods to evaluate vitamin B12 deficiency in these patients remain controversial.Methods: First, we studied the prevalence of vitamin B12 deficiency in a group of 106 T2DM patients treated by Metformin, not supplemented by B12. Antacids were...

Case report: We describe a 28 years old male patient born in IRAK, beeing referred to us because of suspicion of congenital hypogonadism. The patient was 1.86 m tall and 1.97 spam arm and he was no anosmic. He had a 2.5 cm micropenis, and a bilateral reduced testicular volume (3.6 and 3.9 ml). LH 1.7 U/l (2–10), FSH 3.1 U/l (1–8), testosterone 0.7 mmol/l, estradiol <12 ng/l, inhibine B 54 ng/l (105–439) Pituitary MRI was normal.Genetic...

Introduction: Alemtuzumab is a humanized monoclonal antibody against CD52, located on the surface of the lymphocytes, used in the treatment of relapsing-remitting multiple sclerosis (RRMS), that can induce novel secondary autoimmune diseases. Autoimmunity may be related to the pattern of T- and B-cell depletion and repopulation following Alemtuzumab treatment. The most frequently reported autoimmune disorders observed with alemtuzumab involve the thyroid gland in up to a third...

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: Cushing’s disease (CD) is a severe disease, associated with an increased rate of comorbidities and mortality. Remission rate after surgery of pituitary tumor, is around 78%. Relapse occurs in 13% of patients within 10-years after surgery. According to guidelines, patients with unfeasible or non-curative surgery, require additional treatment, including medical therapies. Metyrapone, inhibits 11ß-hydroxylase enzyme, blocking the final step of cortisol syn...

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...