Endocrine Abstracts

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 ...

MEN1 germline mutations are identified in 70% of the familial forms of MEN1 and about 10%of the sporadic cases. Little is known about clinical differences between MEN1 with and without identification of MEN1 germline mutation particularly in terms of PA characteristics.Aim: To compare the clinical features of PA in MEN1 cases with and without germline MEN1 mutation and sporadic cases of PA. Patients and methods: Data were obtained in...

Introduction: Since the 1990’s cabergoline has become the treatment of choice in prolactinomas, allowing rapid and efficient hormonal and tumoral control in most cases. Evidence of cardiac valculopathy was demonstrated in patients treated by dopamine agonists for Parkinson disease, which led to curtailment of their use in this disease. Retrospective studies in hyperprolactinemia patients treated with cabergoline did not show such an effect, probably due to much lower dose...

Introduction: Drospirenone is a synthetic progestin usually found in combination with ethynilestradiol in oral contraceptive formulas. In 2007, this compound was also used in hormonal replacement therapy during menopause. Drospirenone shows antimineralocoricoïd effect due to an analogy of structure with aldosterone. This effect counteracts the estrogen stimulating action of renin–angiotensin–aldosterone (RAA) system, lowering water retention symptoms due to clas...

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/...