Endocrine Abstracts

Meningiomas are the most common intracranial tumors accounting for 20 to 30% of central nervous system tumors. Currently, only two risk factors have been highlighted: the history of exposure (therapeutic or accidental) to ionizing radiation, and some genetic predispositions syndromes in particular Neurofibromatosis type 2. Given the feminine predominance and the presence of progesterone receptors expression in meningiomas, authors began to focus on hormonal factors as a risk f...

Context: Previous studies suggest that patients with acromegaly were at higher risk of vertebral fractures (VFs) despite normal bone mineral density (BMD). However, these patients could have several associated endocrine deficits known to increase the fracture risk, such as hypogonadism. In addition, patients with acromegaly have radiological deformations of the spine, called Erdheim’s syndrome, which can overestimate the radiological VFs.Objective: ...

Introduction: Persistent primary hyperparathyroidism (pHPT) occurs in 2.5 to 15% of cases after parathyroidectomy. Pre-operative localization studies (usually 99mTc-MIBI and cervical ultrasonography (US)) allow focused surgical approach (unilateral neck exploration or minimally invasive parathyroidectomy). Few studies have evaluated the best pre-reoperative approaches in case of persistent sporadic pHPT. The aim of our study is to evaluate the value of a second pre-...

Introduction: Nivolumab is an anti-PD1 immunotherapy that restores the immune response against cancer cells, but can induce fulminant diabetes. The prevalence of such anti-PD1 induced diabetes is not clearly determined, but it has been recently estimated between 0.4% and 0.9% in recent studies. Here, we performed a monocentric epidemiological study in order to assess the prevalence and provide a description of Nivolumab-induced diabetes cases.Material an...

Context: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disordercaused by mutations in the androgen receptor (AR) gene resulting in variable target tissue resistance to androgen action. The underlying molecular defect causes a spectrum of androgen dysfunction ranging from gynecomastia and/or infertility in mild AIS (MAIS) to variable degrees of ambiguous or undermasculinized genitalia in partial AIS to complete testicular feminization in complete A...

Introduction: Health-related Quality of Life (HR-QoL) is usually impaired in patients with thyroid diseases compared to the general population. Thyroidectomy is largely performed in case of benign thyroid disease, and can be associated with severe long-term complications: vocal cord palsy (VCP), hypoparathyroidism. Our goal was to report the long-term HR-QoL outcomes after thyroidectomy using the MOS 36-item short form health survey (SF-36) self-questionnaire.<p class="abs...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an ‘eternal minute’, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education...

Context: Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never been shown whether the identification of a germline mutation in one PPGL susceptibility gene ch...