MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma.

The management of hereditary pheochromocytoma has drastically evolved in the last 20 years. Bilateral pheochromocytoma does not increase mortality in MEN2 or von Hippel-Lindau (VHL) mutation carriers who are followed regularly, but these mutations induce major morbidities if total bilateral adrenalectomy is performed. Cortical sparing adrenal surgery may be proposed to avoid definitive adrenal insufficiency.

Postoperative follow-up of Cushing's disease using cortisol, desmopressin and coupled dexamethasone-desmopressin tests: a head-to-head comparison.

Objective: Predicting the outcome of patients operated on for Cushing's disease (CD) is a challenging task. Our objective was to assess the accuracy of immediate postsurgical plasma cortisol, desmopressin test and the coupled dexamethasone-desmopressin test (CDDT) as predictors of outcome.

Design And Patients: Sixty-seven patients with initial remission and a minimal postsurgical follow-up greater than 18 months were included in this retrospective bicentre study.

An observational study on adrenal insufficiency in a French tertiary centre: Real life versus theory.

Background: Patients suffering from adrenal insufficiency, whether primary (PAI) or secondary (SAI) have an increased mortality risk and increased morbidity. There are no guidelines on hydrocortisone replacement therapy and little is known on patients' management in current practice. We described patients' profiles and treatment in a tertiary referral centre.

Long-term follow-up of ipilimumab-induced hypophysitis, a common adverse event of the anti-CTLA-4 antibody in melanoma.

Objective: Few data are published on the long-term follow-up of ipilimumab-induced hypophysitis, a cytotoxic T-lymphocyte antigen 4 antibody. We characterized hypophysitis in terms of clinical signs, endocrinological profile, and imaging at diagnosis and during a long-term follow-up.

Design And Patients: Fifteen patients, treated for malignant melanoma and who presented ipilimumab-induced hypophysitis, were observed between June 2006 and August 2012 in Timone Hospital, Marseille.

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study.

Background: The prevention of medullary thyroid cancer in patients with multiple endocrine neoplasia type 2 syndrome has demonstrated the ability of molecular diagnosis and prophylactic surgery to improve patient outcomes. However, the other major neoplasia associated with multiple endocrine neoplasia type 2, phaeochromocytoma, is not as well characterised in terms of occurrence and treatment outcomes. In this study, we aimed to systematically characterise the outcomes of management of phaeochromocytoma associated with multiple endocrine neoplasia type 2.

Bilateral neck exploration in patients with primary hyperparathyroidism and discordant imaging results: a single-centre study.

Introduction: Focused parathyroidectomy is the treatment of choice for patients with concordant positive imaging. Bilateral cervical exploration is performed for cases with discordant imaging, yet more than 70% of those cases are the result of a single-gland disease. As focused parathyroidectomy is generally costless and harmless, for cases with discordant imaging, we tried to determine whether preoperative characteristics can lead to a diagnosis of single-gland disease.

Ketoconazole in Cushing's disease: is it worth a try?

Background: The use of ketoconazole has been recently questioned after warnings from the European Medicine Agencies and the Food and Drug Administration due to potential hepatotoxicity. However, ketoconazole is frequently used as a drug to lower circulating cortisol levels. Several pharmacological agents have recently been approved for the treatment of Cushing's disease (CD) despite limited efficacy or significant side effects.

Can stress induce dysimmune dysthyroidism?

Hyperthyroidism due to Graves' disease is autoimmune in origin. The initiation of dysimmunity responsible for the disease is still poorly understood. Numerous population studies show that genetic factors have a major role, but the environment and any kind of stress also contribute to the onset of the disease.

Was Akhenaten really sick?

The depictions of Akhenaten have long interested medicine and above all endocrinology because of the eunuch gynoid morphology of this pharaoh. These depictions call to mind various diagnostic hypotheses that have been successively considered as endocrinology progresses, with emphasis on the three diseases recently identified (gynecomastia family, Kennedy's disease, and fertile eunuch syndrome), which are compatible with the now proven fertility of Akhenaten.

2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer.

Twenty-five percent of medullary thyroid cancers (MTC) are familial and inherited as an autosomal dominant trait. Three different phenotypes can be distinguished: multiple endocrine neoplasia (MEN) types 2A and 2B, in which the MTC is associated with other endocrine neoplasias, and familial MTC (FMTC), which occurs in isolation. The discovery that germline RET oncogene activating mutations are associated with 95-98% of MEN 2/FMTC syndromes and the availability of genotyping to identify mutations in affected patients and their relatives has revolutionized the diagnostic and therapeutic strategies available for the management of these patients.

Outcome of multimodal therapy in operated acromegalic patients, a study in 115 patients.

Introduction: Given the new therapeutic options in acromegaly, it seemed important to evaluate the outcome of operated acromegalic patients today.

Objective: To analyse the characteristics and short- and long-term surgical outcome of patients who underwent transsphenoidal surgery for a growth hormone (GH)-secreting adenoma in our centre and to determine predictive factors of remission.

Design And Patients: This retrospective 10-year study included 115 newly diagnosed acromegalic patients operated on at Timone University Hospital, Marseille, France, between 1997 and 2007.

Cushing's disease.

Cushing's disease, or pituitary ACTH dependent Cushing's syndrome, is a rare disease responsible for increased morbidity and mortality. Signs and symptoms of hypercortisolism are usually non specific: obesity, signs of protein wasting, increased blood pressure, variable levels of hirsutism. Diagnosis is frequently difficult, and requires a strict algorithm.

The use of the glucocorticoid receptor antagonist mifepristone in Cushing's syndrome.

Purpose Of Review: Mifepristone is the first and only available glucocorticoid receptor antagonist. Cushing's syndrome is a rare disease, responsible for increased morbidity and mortality. The treatment of Cushing's syndrome is far from perfect.

Long-term control of a MEN1 prolactin secreting pituitary carcinoma after temozolomide treatment.

We report here a rare case of a young male patient presenting with a Multiple Endocrine Neoplasia Type 1 - prolactin-secreting pituitary carcinoma, controlled long-term after temozolomide withdrawal. Initial presentation was pituitary apoplexy leading to surgery. Dopamine agonists and radiotherapy allowed control of prolactin secretion and pituitary remnant.

From nodule to differentiated thyroid carcinoma: contributions of molecular analysis in 2012.

Today there is a better understanding of the events involved in the initiation and progression of thyroid cancer. It is indeed now known that BRAF and RAS mutations and RET/PTC and PAX8/PPARγ rearrangements account for the majority of molecular alterations detected in differentiated thyroid cancers. Abnormal regulation of microRNAs (miRNAs) is also a promising way of research.

Medical treatment of Cushing's syndrome: glucocorticoid receptor antagonists and mifepristone.

Mifepristone is the first and only available glucocorticoid receptor antagonist. It was initially mainly considered as a so-called 'contragestive' pill due to its antiprogestin activity. In this review, we summarize the results of mifepristone reported in the literature as a treatment of Cushing's syndrome.

A conservative management is preferable in milder forms of pituitary tumor apoplexy.

Aim: Our objective was to report a single-center experience of the management of pituitary tumor apoplexy.

Patients And Methods: We retrospectively analyzed a series of 44 patients hospitalized for pituitary apoplexy between January 1996 and March 2008 at the Timone Hospital, Marseille, France.

Results: Most frequent presenting symptoms were headaches (93%), visual impairment (85%) and vomiting (59%).

[Clinical characteristics of multiple endocrine neoplasia].

Multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2) are autosomal dominant inherited multiglandular diseases with familial and individual age-related penetrance and variable expression. The most frequent endocrine features of MEN1 are parathyroid involvement (> 95%), duodeno-pancreatic endocrine tissue involvement (80%), pituitary adenoma (30%), and adrenal cortex tumors (25%), with no clear syndromic variants. Identification of the germline MEN1 mutation confirms the diagnosis, but there is no phenotype-genotype correlation.

Iodine biokinetics and radioiodine exposure after recombinant human thyrotropin-assisted remnant ablation in comparison with thyroid hormone withdrawal.

Context: A few prospective studies have evaluated the use of recombinant human TSH (rhTSH) for radioiodine remnant ablation.

Objective: Our objective was to compare the effects of the both TSH regimens on iodine biokinetics in the thyroid remnant, dosimetry, and radiation protection.

Design: We conducted a prospective randomized study.

Could primary hyperparathyroidism-related hypercalcemia induce hypercalcitoninemia?

Aims: To determine if primary hyperparathyroidism (pHPT) per se may be responsible of hypercalcitoninemia. pHPT induces chronic hypercalcemia that should be expected to be a potential stimulatory pathway of calcitonin (CT) secretion and to cause hypercalcitoninemia.

Method: We studied relationships between CT and pHPT-related chronic hypercalcemia in 122 patients aged 25-83 years who underwent parathyroid surgery.

Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age?

Background: Familial hyperparathyroidism, especially Multiple Endocrine Neoplasia Type 1, is more likely to present with primary hyperparathyroidism (1 degrees HPT) at a young age, mandating bilateral exploration of the parathyroid glands. However, the majority of young patients will not be gene carriers or have a family history. Recent evidence suggests that young adults under 40, in whom there is no suspicion of family history, can be managed with the same pre- and perioperative strategy as used for sporadic primary HPT of any age.

Limited value of 18F-F-DOPA PET to localize pancreatic insulin-secreting tumors in adults with hyperinsulinemic hypoglycemia.

Context: Fluorine-18-L-dihydroxyphenylalanine positron emission tomography (18F-FDOPA PET) imaging is increasingly used in the workup of neuroendocrine tumors. It has been shown to be an accurate tool in the diagnosis of congenital hyperinsulinism, but limited information is available on its value in adult disease. OBJECTIVE, PATIENTS, AND DESIGN: The objective of this study was to review our experience with 18F-FDOPA PET imaging in six consecutive patients with hyperinsulinemic hypoglycemia (HH) (four solitary insulinomas, one diffuse beta-cell hyperplasia, one malignant insulinoma).

Long-term results of stereotactic radiosurgery in secretory pituitary adenomas.

Context: To date, no study reported long-term follow-up results of gamma knife stereotactic radiosurgery (SR).

Objective: The aim of the study was to determine long-term efficacy and adverse effects of SR in secreting pituitary adenomas.

Design: We conducted a retrospective study of patients treated by SR in the center of Marseille, France, with a follow-up of at least 60 months.

Does first-line surgery still have its place in the treatment of acromegaly?

Transsphenoidal surgery is currently the first-line treatment of acromegaly. Remission is observed in 80 to 90% microadenomas, 50 to 60% non-invasive macroadenomas, and less than 20% invasive macroadenomas. Predictive factors include age, maximal size of the adenoma, cavernous sinus invasion, initial hormone levels and neurosurgeon's experience.

Merits and pitfalls of mifepristone in Cushing's syndrome.

Objective: Mifepristone is the only available glucocorticoid receptor antagonist. Only few adult patients with hypercortisolism were treated to date by this drug. Our objective was to determine effectiveness and tolerability of mifepristone in Cushing's syndrome (CS).