Endocrine Abstracts

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...

Introduction: It has been estimated that 15–20% of FIPA families harbor an AIP gene mutation (AIPmut). To our knowledge ~50 sequence variants -pathological and otherwise- have been described to date. We report a new FIPA family with an extensive genealogy, in which 4 members have pituitary adenomas in the setting of a novel AIPmut.Patients and methods: The index patient is a 37-year-old man, who presented with childhood onset of somatotropinoma and ...

Object: Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that are responsible for an inappropriate production of catecholamines. They are heritable in 40% of cases and can integrate different genetic syndroms. Thus, there are several interests to detect them precociously: avoid comorbidities due to the catecholamine hypersecretion, search syndroms and manage their related manifestations and screen the families. The objectives of this study were to separate PPGLs in...

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: Thanks to advances in genetics, idiopatic short stature have, more frequently, a molecular diagnosis. Mutations in the ACAN gene are responsible for different forms of syndromic short stature but were also described in association with idiopathic short stature or with joint damage and advanced bone age. Transmission is autosomal dominant. Less than 25 mutations have been described since 2010 and are localized all along the protein. The ACAN gene...

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...