Showing papers in "Annales D Endocrinologie in 2009"

Familial pituitary adenomas

Abstract: Pituitary adenomas are benign intracranial neoplasms that present a major clinical concern because of hormonal overproduction or compression symptoms of adjacent structures. Most arise in a sporadic setting with a small percentage developing as a part of familial syndromes such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and the recently described familial isolated pituitary adenomas (FIPA) and MEN-4. While the genetic alterations responsible for the formation of sporadic adenomas remain largely unknown, considerable advances have been made in defining culprit genes in these familial syndromes. Mutations in MEN1 and PRKAR1A genes are found in the majority of MEN1 and CNC patients, respectively. About 15% of FIPA kindreds present with mutations of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Mutations in the CDKN1B gene, encoding p27(Kip)¹ were identified in MEN4 cases. Familial tumours appear to differ from their sporadic counterparts not only in genetic basis but also in clinical characteristics. Evidence suggests that, especially in MEN1 and FIPA, they are more aggressive and affect patients at younger age, therefore justifying the importance of early diagnosis. In this review, we summarize the genetic and clinical characteristics of these familial pituitary adenomas.

Serum antimüllerian hormone is not predictive of oocyte quality in vitro fertilization.

Abstract: Resume Objectif L’evaluation de la reserve ovarienne est indispensable chez les femmes prises en charge en assistance medicale a la procreation. L’hormone antimullerienne (AMH), produite par les cellules de la granulosa des follicules preantraux et antraux precoces est un marqueur prometteur de cette reserve ovarienne. Cependant, peu d’etudes se sont interessees a la valeur predictive de l’AMH quant a la qualite ovocytaire. Materiels et methodes Une etude retrospective a ete menee au CHRU de Tours sur 559 femmes prises en charge en fecondation in vitro entre janvier et decembre 2007. Pour toutes ces patientes, un dosage d’AMH serique a ete realise avec le meme kit Elisa ultrasensible. Les parametres mesures etaient le nombre total d’ovocytes, le taux d’ovocytes matures, le taux de fecondation, la qualite embryonnaire et le taux de grossesse clinique. Resultats Si une AMH basse est associee a un nombre reduit d’ovocytes a la ponction, elle ne predit pas la maturite nucleaire des ovocytes recueillis, la fecondation et la qualite des embryons precoces. Une AMH basse n’exclut pas l’initiation d’une grossesse clinique en fecondation in vitro. Conclusion A l’heure actuelle, l’AMH serique est un marqueur relativement predictif de la reserve ovarienne sur le plan quantitatif mais pas sur le plan qualitatif. Par ailleurs, il n’est pas encore possible de definir une valeur seuil excluant l’initiation d’une grossesse en fecondation in vitro.

Two-month effects of individualized exercise training with or without caloric restriction on plasma adipocytokine levels in obese female adolescents

Abstract: Resume Objectifs Etudier les effets d’un programme d’entrainement individualise associe a un regime hypocalorique sur les concentrations plasmatiques des adipocytokines chez des adolescentes obeses. Materiels et methodes Vingt-sept adolescentes obeses ont ete reparties (ordre randomise) en trois groupes avec trois interventions differentes sur deux mois : (1) regime hypocalorique (n = 9), (2) entrainement individualise au niveau du Lipoxmax (puissance pour laquelle le taux d’oxydation des lipides est maximal) (n = 9) et (3) programme combine regime/entrainement (n = 9). La masse corporelle (MC), l’indice de masse corporelle (IMC), le pourcentage de masse grasse (%MG), l’estimation de la resistance a l’insuline par le modele d’evaluation homeostasique (HOMA-IR) et les niveaux plasmatiques a jeun des adipocytokines ont ete evalues avant et apres les deux mois d’intervention. Resultats Le programme regime/entrainement a induit un decalage du niveau de Lipoxmax vers une intensite superieure (+27,8 ± 5,1W ; p Conclusion L’entrainement au niveau du Lipoxmax combine avec un programme de regime hypocalorique a ameliore la capacite a oxyder les lipides pendant l’exercice, et cette amelioration a ete associee aux ameliorations des niveaux plasmatiques des adipocytokines chez des adolescentes obeses.

Statut iodé et fonction thyroïdienne chez 330 femmes de la région niçoise évaluées en deuxième partie de grossesse

Abstract: Background Iodine deficiency (ID) is still common in Western Europe and its prevention remains a challenge, particularly during pregnancy. Methods We studied 330 pregnant women in the third trimester of pregnancy for ioduria (UIE) and thyroid tests (TSH, fT4). We collected information on personal history of thyroid disease and treatment with thyroid hormones or iodinated pregnancy tablets. Results and discussion Median UIE was 64 μg/l, reflecting inadequate iodine intake in our population. According to the UIE threshold used for diagnosis (100 to 150 μg/l), ID was present in 74.3% to 85.8% of women; 5.4% had excessive iodine intake, including one taking iodine fortified tablets. Only 8.8% had adequate intake, suggesting that current strategies to eradicate ID are inefficient in our country. Among the 22 women taking iodine supplements, only three had adequate UIE and four had UIE below the detection level, which could suggest either poor compliance or insufficient supplementation. Median fT4 was 12.3 pmol/l (8–20.1) and TSH 1.93 mUI/l (0.24–6.57). We used different thresholds proposed in the literature to diagnose: hypothyroxinemia: 41.2% were less than 12 pmol/l, 10% less than 10.3 pmol/l and 1.8% less than 9 pmol/l (lower limit of our reference range); subclinical hypothyroidism: 26.3% had TSH greater than 2.5 or 3.9% greater than 4 mUI/L, 1.2 to 13% had combined low fT4 ( 2.5 mUI/l). There was no correlation between UIE and thyroid tests, nor maternal predicting factors for ID. Conclusion ID is common in our population. The wide range of hypothyroxinemia and subclinical hypothyroidism prevalence should also trigger reflection of diagnostic thresholds and therapeutic intervention.

Biochemical diagnosis of pheochromocytoma and paraganglioma.

Abstract: Pheochromocytomas and paragangliomas are catecholaine-producing neuroendocrine tumors arising from chromaffin ells in the adrenal glands and in the ganglia. The catecholamines ecreted by these tumors are usually responsible for signs and ymptoms like hypertension, headache, palpitations, excessive weating and pallor [1]. The archetypical patient in whom this umor is considered is the hypertensive patient with paroxysmal ymptoms. Although many patients are tested, its incidence is xtremely rare, being 50–75 new patients per year in the dutch opulation of approximately 16 million inhabitants. Despite mproved diagnostic test methods, the diagnosis is missed in considerable number of patients [2,3]. The spectrum of disorders for which testing for pheochromoytoma is necessary includes symptomatic patients suspected for aving primary or recurrent pheochromocytoma, patients with n incidentaloma, patients with therapy-resistant hypertension nd patients with a hereditary predisposition for pheochromoytoma like von Hippel Lindau (VHL), multiple endocrine eoplasia (MEN-2), neurofibromatosis (NFI) and succinate ehydrogenase B, D and C mutations. For the diagnosis of pheochromocytoma one has to demontrate that there is an excessive production of catecholamines nd/or metabolites of catecholamines in plasma or urine. There s a variety of different biochemical tests available and for initial esting a test with a maximal negative predictive value is mandaory since a missed diagnosis due to a false-negative test result an have catastrophic consequences for the patient. Before discussing the diagnostic pros and cons of the different ests, first the metabolism of catecholamines will be discussed ecause knowledge of the different metabolites may help to nderstand their different diagnostic characteristics.

French consensus on the management of acromegaly.

Abstract: . Chanson a,∗, J. Bertherat b, A. Beckers c, H. Bihan d, T. Brue e, P. Caron f, O. Chabre g, M. Cogne h, C. Cortet-Rudelli i, B. Delemer j, H. Dufour k, R. Gaillard l, M. Gueydan e, I. Morange e, J.-C. Souberbielle m, A. Tabarin n, on behalf of the Club français de l’hypophyse (French Pituitary Club) and of the Société française d’endocrinologie (French Endocrinology Society) a Service d’endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, université Paris-Sud-11, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France b Service des maladies endocriniennes et métaboliques, hôpital Cochin, université Paris Descartes, 27, rue du Faubourg-St-Jacques, 75014 Paris, France c Service d’endocrinologie, CHU de Liège, domaine universitaire du Sart-Tilman, 4000 Liège, Belgique d Service d’endocrinologie, diabétologie et maladies métaboliques, hôpital Avicenne, université Paris-13, 125, route de Stalingrad, 93009 Bobigny, France e Service d’endocrinologie, diabète et maladies métaboliques, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 05, France f Service d’endocrinologie, maladies métaboliques et nutrition, pôle cardiovasculaire et maladies métaboliques, hôpital Larrey, 24, chemin de Pouvourville, TSA 30030, 31059 Toulouse cedex 9, France g Service d’endocrinologie, Pavillon des Écrins, hôpital Nord, CHU, BP 217 X, 38043 Grenoble cedex 09, France h Service d’endocrinologie, CHR de la Réunion, site de Saint-Pierre, BP 350, 97448 Saint-Pierre, Réunion i Service de diabétologie et pathologies hypothalamohypophysaire, clinique Marc-Linquette, CHRU de Lille, 6, rue du Professeur-Laguesse, 59037 Lille cedex, France j Service d’endocrinologie, CHU de Reims, 51092 Reims cedex, France k Service de neurochirurgie, université de la Méditerranée, CHU de la Timone Adultes, 264, rue St-Pierre, 13385 Marseille cedex 5, France l Service d’endocrinologie, diabétologie et métabolisme, CHU Vaudois (CHUV), 1011 Lausanne, Suisse m Service d’explorations fonctionnelles, hôpital Necker–Enfants malades, 149, rue de Sèvres, 75015 Paris, France n Service d’endocrinologie-diabétologie et maladies métaboliques, hôpital Haut-Lévêque, CHU de Bordeaux, avenue de Magellan, 33600 Pessac, France

Oxytocin: From milk ejection to maladaptation in stress response and psychiatric disorders. A psychoneuroendocrine perspective

Abstract: Oxytocin (OT) is implicated in stress reduction as well as in social behavior. It inhibits the stress-induced activity of the hypothalamic-pituitary adrenal axis responsiveness. OT is involved in social affiliation, sexual and maternal-infant binding, anxiety, mood, feeding control and memory. Several lines of evidence suggest a role of OT in psychiatric disorders. Various psychiatric disorders are strongly influenced by social variables, such as panic attacks, depression and early childhood autism, and seem to exhibit a particularly close connection with the brain dynamics that underlie social emotions. This paper proposes an overview of OT in psychiatric disorders through the links with the stress response and prosocial behavior.

Les maladies héréditaires du métabolisme à l’âge adulte

Abstract: We present a simplified classification of treatable inborn errors of metabolism (IEM) in three groups with a special focus on those disorders observed at adult age. Group 1 includes inborn errors (IE) of intermediary metabolism which give rise to an acute or chronic intoxication. It encompasses aminoacidopathies, organic acidurias (OA), urea cycle disorders (UCD), sugar intolerances, metal storage disorders and porphyrias. Clinical expression can be acute, systemic or involves a specific organ, it can strike in the neonatal period or later and intermittently from infancy to late adulthood. Most of these disorders are treatable and require the emergency removal of the toxin by special diets, extracorporeal procedures, cleansing drugs or vitamins. Group 2 includes IE of intermediary metabolism which affect the cytoplasmic and mitochondrial energetic processes. Cytoplasmic defects encompass those affecting glycolysis, glycogenosis, gluconeogenesis, creatine and pentose phosphate pathways; the latter are untreatable. Mitochondrial defects include respiratory chain disorders, Krebs cycle and pyruvate oxidation defects, mostly untreatable, and disorders of fatty acid oxidation and ketone bodies that are treatable. Group 3 involves cellular organelles and include lysosomal, peroxisomal, glycosylation, and cholesterol synthesis defects. Among these, some lysosomal disorders can be efficiently treated by enzyme replacement or substrate reduction therapies. Physicians can be faced with the possibility of a treatable IE in emergency, either in the neonatal period or late in infancy to adulthood, or as chronic and progressive symptoms, general (failure to thrive), neurological, or specific for various organs or systems. These symptoms and the simplified classification of IEM are summarized in seven tables.

Mise au point sur la vitamine B12 administrée par voie orale

Abstract: Objective The objective of this review is to evaluate the usefulness of oral cobalamin (vitamin B12) treatment. Material and method PubMed was systematically searched for English and French articles published from January 1990 to January 2007. Results Prospective randomized studies ( n = 3), a systematic review by the Cochrane group ( n = 1) and prospective studies in well-determined population ( n = 5) provide evidence that oral cyanocobalamin therapy may adequately treat cobalamin deficiency in elderly patients. However, the current literature may not suggest a strategy in terms of the form (hydroxy- or cyanocobalamin), frequency and duration of the treatment. Conclusion This present review confirms the previously reported efficacy of oral cyanocobalamin treatment in elderly patients.

Bilateral adrenalectomy for severe hypertension in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: Long term follow-up

Abstract: Resume La surrenalectomie bilaterale comme option chirurgicale pour le traitement des patients avec hyperplasie congenitale des surrenales (HCS) secondaire au deficit en 21-hydroxylase a ete recemment proposee. Il y a cependant peu de donnees documentees concernant l’efficacite a long terme et les effets secondaires potentiels de ce traitement. Des patients presentant un deficit en 11β-hydroxylase (11βHD) sont egalement concernes par cette nouvelle approche therapeutique. Objectif Decrire notre experience de la surrenalectomie bilaterale comme traitement de l’hypertension grave chez un patient presentant un deficit en 11βHD et rapporter les resultats et le suivi a long terme (72 mois) apres la chirurgie. Patient et intervention Le cas rapporte est celui d’un patient de 22 ans, eleve en tant que garcon et presentant un pseudo-hermaphrodisme feminin secondaire a une insuffisance en 11βHD. Son hypertension est demeuree mal controlee par le traitement substitutif et antihypertenseur, l’exposant ainsi a des complications graves. La surrenalectomie bilaterale lui a ete proposee. Resultats L’intervention a ete suivie de la normalisation immediate de la pression arterielle. Au cours du suivi, aucune crise d’insuffisance surrenalienne n’a ete rapportee grâce a une bonne compliance therapeutique. Un taux moderement eleve de 11-deoxycortisol a persiste apres l’intervention ; il serait du a la presence de tissu ectopique. Conclusion La surrenalectomie bilaterale est une methode sure et efficace pour controler l’hypertension arterielle de l’HCS secondaire a un deficit en 11βHD. Le suivi clinique et biochimique a long terme des patients avec HCS traites par surrenalectomie bilaterale est necessaire.

Corticomedullary mixed tumor of the adrenal gland

Abstract: A 34-year-old woman presented with weight gain, hirsutism, recent hypertension and secondary amenorrhea. Laboratory findings showed hypokalemia, elevated cortisol and androgen levels with normal urine metanephrines and normal aldosteronemia. Abdominal magnetic resonance imaging showed a right heterogeneous adrenal mass measuring 4 x 6 cm with mixed component of fat and adrenal tissue suggesting corticosurrenaloma. After right adrenalectomy, blood pressure normalized and hypokalemia resolved. In the postoperative course, the patient presented adrenal insufficiency treated with hydrocortisone hemisuccinate. Histological examination showed a single tumor mass composed of an admixed population of adrenal cortical and medullary cells. Immunohistochemical evaluation was positive for chromogranin A.

Etiologic discussion and clinical relevance of thyroid ultrasonography in subclinical hypothyroidism. A retrospective study in 1845 patients.

Abstract: Resume Position du probleme L’hypothyroidie infraclinique de l’adulte est principalement due a une thyroidite auto-immune. En l’absence de goitre ou de thyroide ferme a la palpation, la recherche des anticorps antithyroidiens permet de preciser le diagnostic etiologique. Que les anticorps antithyroidiens soient detectes ou non, quel pourrait etre l’interet clinique de l’echographie thyroidienne au cours de cette affection ? Methodes Nous avons etudie 1845 cas d’hypothyroidie infraclinique de l’adulte depistes sur des signes evocateurs d’hypothyroidie ou d’une pathologie thyroidienne. Tous ces patients ont eu une recherche des anticorps antithyroidiens et une exploration echographique du corps thyroide. Localisation Etude retrospective multicentrique. Resultats La thyroidite chronique auto-immune a ete affirmee chez 70 % des patients. Les anticorps antithyroidiens n’ont pas ete deceles dans 30 % des cas. Chez tous les patients, l’echographie thyroidienne a permis de mesurer le volume thyroidien, de detecter des nodules non palpables et d’en permettre ainsi l’examen cytologique. Chez les patients sans anticorps antithyroidiens decelables, l’examen echographique a permis d’evoquer une thyroidite auto-immune dans 31 % des cas. Inversement, l’echographie thyroidienne n’a pas ete contributive chez les patients sans nodule et chez lesquels l’echostructure thyroidienne etait normale. La strategie du traitement hormonal thyroidien n’est pas influencee par les donnees echographiques. Sur l’ensemble des patients, l’examen cytologique a permis de depister dix cas de suspicion de cancer (4 %). La chirurgie a permis de confirmer le diagnostic de cancer neuf fois sur dix. L’echographie avait montre des aspects suspects dans six cas sur dix. Conclusion Dans l’hypothyroidie infraclinique, l’echographie thyroidienne n’est pas necessaire pour le diagnostic de thyroidite auto-immune, mais elle est utile lorsque la palpation thyroidienne est anormale et elle permet la detection de nodules non palpables. Chez les patients sans anticorps antithyroidiens decelables, l’echographie thyroidienne a permis de d’evoquer le diagnostic de thyroidite auto-immune dans certains cas.

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

Abstract: 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. Complications are rare, with about 5% definitive diabetes insipidus and 10% of new anterior pituitary hormone deficits. Somatostatin agonist pretreatment can be proposed as it decreases tumor volume in about 25% cases and might reduce the rate of immediate postsurgical complications; however, there is no obvious difference in surgical remission rate whether patients are pretreated or not. Debulking surgery can also be proposed in very large macroadenomas incompletely controlled by somatostatin agonists or resistant to medical treatment, as it was shown to facilitate somatostatin agonist efficacy in more than 50% cases.

Diabète et antipsychotiques de seconde génération

Abstract: Schizophrenia is a common psychiatric illness (1% of the general population), characterized by the association of positive and negative symptoms and cognitive disorders. Antipsychotics, typical or atypical, are known to induce in patients with schizophrenia weight gain and abnormalities in glucose and lipid metabolisms. These modifications, in addition to metabolic risk factors, intrinsic to the psychiatric illness (physical inactivity, smoking, diabetes), increase the risk of cardiovascular complications. Some antipsychotics are associated with a higher risk of metabolic disorders. Before starting such a medication, all risk factors must be taken into account. In case of even effectiveness, one should consider the risk of inducing metabolic disorders, as well as the intrinsic risk factors of the patient, in order to prescribe the medication associated with the lower metabolic risk. Regarding iatrogenic diabetes, the risk of occurrence seems different, depending on the molecules, being more marked for clozapine, olanzapine, risperidone, quietapine then amisulpride, aripiprazole and finally ziprasidone. The physiopathology seems to involve both an increase in insulin resistance and an alteration of insulin secretion. Nevertheless, the benefit/risk often remains largely in favour of treatment, the atypical antipsychotics are at least equally effective and better tolerated on the cognitive and neurological functions than conventional antipsychotics being. They have particularly far fewer extrapyramidal effects. The reversibility of pathologies induced by atypical antipsychotics led to the formulation of guidelines, leading to regular clinical and biological follow-up.

Wnt/βcatenin signaling in adrenocortical stem/progenitor cells: Implications for adrenocortical carcinoma

Abstract: A. Kim a, T.-J. Giordano b, R. Kuick c, K. Serecky d, G.D. Hammer a,d,e,∗ a Cellular and Molecular Biology Training Program, University of Michigan, 109 Zina Pitcher Place, 1502 BSRB, Ann Arbor MI 48109-2200, United States b Department of Pathology, University of Michigan, 109 Zina Pitcher Place, 1502 BSRB, Ann Arbor MI 48109-2200, United States c Department of Pediatrics, University of Michigan, 109 Zina Pitcher Place, 1502 BSRB, Ann Arbor MI 48109-2200, United States d Department of Molecular and Integrative Physiology, University of Michigan, 109 Zina Pitcher Place, 1502 BSRB, Ann Arbor MI 48109-2200, United States e Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan, 109 Zina Pitcher Place, 1502 BSRB, Ann Arbor MI 48109-2200, United States

Manifestations cardiaques des phéochromocytomes

Abstract: Pheochromocytoma is a rare cause of secondary hypertension which may have protean clinical presentations. Noteworthy, it may be revealed or complicated by cardiovascular symptoms such as arrythmia, cardiomyopathy, acute coronary syndrome and cardiogenic shock. These cardiac manifestations of pheochromocytoma may delay diagnosis and must be known in order to provide the best chance at early detection. In some cases pheochromocytoma may be associated to a large apical dyskinesia of the left ventricule apex, tako-tsubo-like which is a reversible acute myocardiopathy. These acute cardiologic manifestations appear to be induced by a toxic effect of elevated catecholamine levels.

A matter of dosage: SF-1 in adrenocortical development and cancer.

Abstract: Steroidogenic factor-1 (SF-1), a nuclear receptor transcripion factor, has a pivotal role in adrenal and gonadal development n humans and mice. It was previously shown that Sf-1 dosage ritically regulates adrenal size and function in mice, while in umans mutation of a single SF-1 allele leads to adrenal and/or onadal dysgenesis. Recent studies have elucidated the role of n increased SF-1 dosage as an important pathogenetic factor n childhood adrenocortical cancer and in experimental adrenoortical cancer in mice and identified genes that are regulated y SF-1 in a dosage-dependent fashion. Drugs targeting SF-1 ranscriptional activity may then represent potential therapeutic ools to be associated to current chemotherapeutic regimens for he treatment of adrenocortical cancer in children. The adrenal cortex is an essential component of the ypothalamic-pituitary-adrenal axis, synthesizing essential teroid hormones (mineralocorticoids, glucocorticoids and ndrogens) and regulating diverse biological processes, such as tress response, blood pressure, glucose metabolism and sexual evelopment. The structure of the fetal adrenal cortex is unique in human nd primates compared to other species. In fact, during intrauterne life, most of the inner part of the adrenal cortex (fetal zone) s occupied by large, steroid-secreting cells, which synthesize arge amounts of dehydroepiandrosterone and its sulfate derivaive (reviewed in [1]). Conversely, a few layers of cells lying in n outer, subcapsular position (definitive zone) are nonsteroidoenic and constitute a proliferative compartment in which most robably the precursors of fetal zone cells are generated. An dditional zone (transitional zone) develops between the definiive and the fetal zone late in pregnancy and synthesizes cortisol. teroid hormones produced by the fetal zone regulate intrauterne homeostasis, the maturation of the fetal organs necessary for

Bénéfices tensionnels, anthropométriques et métaboliques de l’exérèse chirurgicale des adénomes cortisoliques infracliniques

Abstract: Objectives To compare clinical, vascular and metabolic parameters before and after surgery in patients with subclinical cortisol secreting incidentalomas. Patients and methods Eight patients were investigated before and 12 months after removal of the mass on hemodynamic (blood pressure by MAPA procedure), anthropometric (body weight, body mass index), and metabolic parameters (glucose level, HbA1c). Results In the whole group, 75% of patients displayed decrease in blood pressure (cessation of at least one hypotensive medication) and 33% of them were definitely cured of hypertension. Seventy-one percent of patients lost body weight and 37.5% lost more than 5%. In the whole group of patients, glucose level decreased by 1.1% and medical treatment was discontinuated in two of three diabetic patients. Conclusion Subclinical cortisol secreting adrenal incidentalomas are associated with cardiovascular risk factors that may be corrected after removal of the mass. Therefore, surgery may be an appropriate choice in patients with subclinical Cushing's syndrome to improve hypertension, body weight and impaired glucose level. Controlled studies comparing surgical treatment to a medical follow-up including optimal cardiovascular risk factors treatment are needed to define the usefulness of surgery in hypertensive patients with subclinical cortisol secreting incidentalomas.

Carcinomes et adénomes hypophysaires agressifs: mise au point et nouvelles options thérapeutiques

Abstract: Pituitary carcinomas are a rare disease with an estimated prevalence around 0.2 % of the pituitary tumours. They are defined by the presence of intra or extra-cranial metastases but initially they can share the same features as aggressive pituitary adenomas. Indeed there are some indicators that help to differentiate adenomas and carcinomas such as histological findings and immunohistochemical characteristics. Usually in carcinomas, mitotic activity is higher, proliferative index Ki-67 is higher, p53 expression is positive and microvascular density is mostly increased. The majority of carcinomas are prolactin or ACTH-secreting tumors. Dopamine and somatostatin-receptor agonists are not as effective as for the treatment of adenomas. Carcinomas require often repeated surgery and radiotherapy fail to control the tumor. Conventional chemotherapy is poorly effective, but recent case reports with the alkylating agent temozolomide have provided better results at least in the short term. The effects of temozolomide are reversed by the enzyme MGMT and the treatment's response can be predicted by the study of MGMT's expression : tumours lacking MGMT are especially sensitive to temozolomide.

Hypogonadisme hypogonadotrope congénital

Abstract: Congenital hypogonadotropic hypogonadism is defined by reduced steroid hormone synthesis and secretion due to low LH and FSH secretion. It is a rare disease with an unknown prevalence (about 1/5000). It results from a fetal defect in GnRH neuron migration, a defect of pituitary development or from a functional defect of the hypothalamopituitary axis between GnRH neurons and gonadotropic cells. The diagnosis should be considered at birth in males with micropenis, during adolescence in case of delayed puberty or absent puberty, and during adulthood in case of infertility. It may be restricted to the gonadotropic axis, combined with other endocrine system defects or be part of a complex syndrome. Several gene defects have now been described. Molecular studies should be performed to confirm the diagnosis and to help provide appropriate genetic counseling. Treatment to induce puberty should be provided at adolescence, followed by hormonal substitution treatment during adulthood. Specific infertility treatment may also be proposed but patients with the dominant form of gonadotropic deficiency should be informed of the risk of transmission.

Glycaemic control and cardiovascular morbi-mortality: The contribution of the 2008 studies

Abstract: The year 2008 was rich in teachings and suspense in diabetology. Past studies, i.e. United Kingdom Prospective Diabetes Study (UKPDS) in type 2 diabetic patients and Diabetes Control and Complications Trial (DCCT) in type 1 diabetic patients, have shown that in the short term, intensive treatment reduces the incidence of microvascular complications linked to diabetes and in the long term that of both microvascular and macrovascular ones. The in-the-raw conclusions of the recent Action to Control Cardiovascular risk in Diabetes (ACCORD) study note an increase in mortality in type 2 diabetic patients treated intensively, while the Action in Diabetes and Vascular disease, Perindopril and Indapamide Controlled Evaluation (ADVANCE) study evidences a reduction in microvascular complications and the Veterans Affairs Diabetes Trial (VADT) study shows that intensive treatment has no significant effect. A well thought-out analysis of the studies published in 2008 (ACCORD, STENO 2 post-trial, ADVANCE, VADT, UKPDS post-trial, Epidemiology of Diabetes Interventions and Complications [EDIC]) is particularly instructive and highlights the existence of glycaemic memory, the non-existence of blood pressure memory, the need to control all cardiovascular risk factors and to treat diabetes early while avoiding hypoglycaemic incidents. The glycaemic target based on HbA1c must take into account the patient's age and the duration of his diabetes, as well as his cardiovascular risk factors and previous glycaemic control. All in all, the intensive treatment of type 2 diabetes must begin early; it must not be too rapid and must avoid hypoglycaemic incidents and be combined with a strict control of other cardiovascular risk factors.

Angiogenesis in adrenocortical physiology and tumor development.

Abstract: The vasculature of embryonic and adult tissues is composed f a spatially organized network of blood vessels that provide dequate nutrients to all their constituting cells. Small blood apillaries essentially consist of endothelial cells, whereas larger essels are surrounded by mural cells (pericytes in medium-sized nd smooth muscle cells in large vessels) [1,2]. A major differnce between embryonic and adult vessels is that the former re constantly growing and present a high mitogenic activity hereas the latter are quiescent with endothelial cells renewng every 12 to 18 months in humans. However, angiogenesis s re-activated in adult tissues under certain stress or pathoogical situations such as ischemia or inflammation. During evelopment, the vascular network is formed by two distinct echanisms termed vasculogenesis and angiogenesis. Vasculoenesis defines the differentiation of angioblasts or stem cells nto a primitive vascular plexus whereas angiogenesis defines he formation of new blood vessels from pre-existing ones hrough sprouting, bridging and intussusceptive growth. Sevral key regulatory molecules controlling these processes have een identified over the last decades including vascular endotheial growth factor (VEGF), angiopoïetins and platelet-derived rowth factor (PDGF). Two distinct phases are usually observed n the angiogenic process:

Thyroid and gastric autoimmune diseases.

Abstract: Resume Objectifs Les maladies thyroidiennes autoimmunes (MTAI) s’accompagnent frequemment d’autres pathologies auto-immunes specifiques d’organe. Nous avons etudie la frequence de l’association MTAI-maladie de Biermer en recherchant la presence d’anticorps anti-facteurs intrinseques (Ac-FI) chez des sujets atteints de MTAI. Patients et Methodes Les serums de 113 patients souffrant de MTAI (hypo- or hyperthyroidie) ont ete testes pour la presence d’AcFI de type I IF-Ab avec un immunodosage par competition automatise. Ces serums ont ete apparies avec 113 serums de sujets souffrant de dysthyroidies sans anticorps antithyroidiens a un titre eleve. Resultats Les serums de quatre patients avec une MTAI presentaient des AcFI. Une maladie de Biermer etait connue chez deux et fortement suspectee chez les deux autres. Aucun sujet controle ne presentait d’AcFI dans le serum. Les concentrations de vitamine B12 etaient frequemment retrouvees basses quelles que soient les sujets. Conclusion La prevalence des AcFI (3,5 %) est plus elevee chez des patients souffrant de MTAI que chez ceux soufrant de dysthyroidie non auto-immune. Des etudes prospectives devraient chercher a etablir : (i) si la correction hormonale des dysthyroidies ameliore les concentrations de vitamine B12 chez tous les sujets quelle que soit l’etiologie de la dysthyroidie et (ii) si la recherche en routine d’AcFI doit faire partie des bilans biologiques des MTAI.

Consensus français sur la prise en charge de l’acromégalie

Abstract: Consensus français sur la prise en charge de l’acromégalie P. Chanson a,∗, J. Bertherat b, A. Beckers c, H. Bihan d, T. Brue e, P. Caron f, O. Chabre g, M. Cogne h, C. Cortet-Rudelli i, B. Delemer j, H. Dufour k, R. Gaillard l, M. Gueydan e, I. Morange e, J.-C. Souberbielle m, A. Tabarin n, au nom du Club français de l’hypophyse et de la Société française d’endocrinologie a Service d’endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, université Paris-Sud 11, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France b Service des maladies endocriniennes et métaboliques, hôpital Cochin, université Paris Descartes, 27, rue du Fauboug-Saint-Jacques, 75014 Paris, France c Service d’endocrinologie, CHU de Liège, domaine universitaire du Sart-Tilman, 4000 Liège, Belgique d Service d’endocrinologie, diabétologie et maladies métaobliques, hôpital Avicenne, université Paris-13, 125, route de Stalingrad, 93009 Bobigny, France e Service d’endocrinologie, diabète et maladies métaboliques, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 05, France f Service d’endocrinologie, maladies métaboliques et nutrition, pôle cardiovasculaire et maladies métaboliques, hôpital Larrey, 24, chemin de Pouvourville, TSA 30030, 31059 Toulouse cedex 9, France g Service d’endocrinologie, pavillon des Écrins, hôpital Nord, CHU de Grenoble, BP 217 X, 38043 Grenoble cedex 09, France h Service d’endocrinologie, CHR de la Réunion, site de Saint-Pierre, BP 350, 97448 Saint-Pierre cedex, France i Service de diabétologie et pathologies hypothalamo-hypophysaire, clinique Marc-Linquette, CHRU de Lille, 6, rue du Pr-Laguesse, 59037 Lille cedex, France j Service d’endocrinologie, CHU de Reims, 51092 Reims cedex, France k Service de neurochirurgie, CHU Timone-Adultes, université de la Méditérannée, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France l Service d’endocrinologie, diabétologie et métabolisme, centre hospitalier universitaire Vaudois (CHUV), CH-1011 Lausanne, Suisse m Service d’explorations fonctionnelles, hôpital Necker–Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France n Service d’endocrinologie, diabétologie et maladies métaboliques, hôpital Haut-Lévêque, CHU de Bordeaux, avenue de Magellan, 33600 Pessac, France

Procréation par don d’ovocytes dans le syndrome de Turner : une situation à haut risque

Abstract: Turner's syndrome is characterized by an ovarian failure, which occurs in most cases before puberty and leads to infertility. In vitro fertilization with oocyte donation has dramatically transformed the prognosis of infertility of these women. However, in the same time, it has become obvious that pregnancies in Turner's syndrome are at very high risk of possible sudden death because of a specific risk for cardiovascular complications involving aortic root dissection. We report the case of a serious cardiac failure occurred during a twin pregnancy obtained by oocyte donation in a 39-year-old patient with Turner's syndrome. Pregnancy outcome was hopefully favourable thanks to a foetal extraction at 27 weeks of amenorrhoea. If the most reported cases of maternal deaths in patients with Turner's syndrome are associated with an aortic root dissection, our observation is characterized by a full normal cardiologic assessment before the pregnancy and by the absence of aortic root dilatation during pregnancy. This case also illustrates the very high risk of pregnancy in women with Turner's syndrome and the importance of a multidisciplinary care by professionals informed and been used to this obstetric practice.

L’oncofertilité : vers une nouvelle spécialité ?

Abstract: Although treatment and survival are the primary focus of health-care patients, with cancer survivors living longer it is now appropriate to consider their quality of life after treatment, including the possibility of becoming parents. There are several options for fertility preservation in cancer patients. Even though most of them are still experimental and their efficacy and reliability have not been determined, especially in women. The most successful alternative for female survivors is embryo cryopreservation, an approach not suitable for many single or virgin women or even possible for prepubertal girls. Reports of live birth after transplantation of human ovarian tissue have reinforced the clinical potential of ovarian tissue banking for fertility preservation. Many exciting studies are underway to improve the efficacy and solve the problems with current fertility preservation strategies, especially for in vitro culture of cryopreserved tissue or follicles. Continuous efforts to improve current strategies and to develop new strategies will benefit many women and children who are facing premature ovarian failure and sterility.

Hyperphagie boulimique et obésité : aspects épidémiologiques, cliniques et psychopathologiques. Étude d’une population d’obèses à Sfax (Tunisie)

Abstract: Objectives To evaluate the prevalence of binge eating disorder (BED) in a population of obese patients, to appreciate the impact of obesity on BED through a comparison between the obese group and a control group, and to assess anxiety, depression and quality of life in obese patients with BED. Patients and methods A cross-sectional study including 60 obese patients and 60 controls. BED was diagnosed using the Binge Eating Scale. Quality of life was assessed by the Quality Of Life, Obesity and Dietetics Scale, and depression and anxiety symptoms by the Hospital Anxiety and Depression Scale. Results The obese group had a higher prevalence of BED than the control group (40% versus 8.3%; p Conclusion This study confirms the relationship between obesity and BED, which is correlated with a high prevalence of anxiety and depression and with a poorer quality of life.

Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia

Abstract: Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus and progressive sensorineural deafness. We report the cases of two infants, aged 4 and 5 months, hospitalized for diabetic ketoacidosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine level. Neurosensorial investigations showed bilateral deafness and ophthalmic involvement. Treatment with oral thiamine normalized hematological disorders and controlled diabetes; however, thiamine therapy had no impact on neurosensorial disorders.

Hypoglycémies et manifestations endocriniennes des maladies héréditaires du métabolisme chez l’adulte

Abstract: Inborn errors of metabolism (IEM) are rare diseases, most often inherited as an autosomal recessive disorder. They may be associated with endocrine dysfunction, the most frequent of them being disorders of carbohydrate metabolism (hypoglycemia, diabetes). The endocrinologist might be led to screen these complications in a patient whose diagnosis has been done during childhood. In some rare cases, he should evoke the diagnosis in front of an endocrine disorder most often associated to a multisystemic involvement. This spreading field is new, not yet very well known in adulthood. Long-term consequences of IEM on fertility and bone metabolism are still poorly understood. Diagnosis orientation relies on a few specific lab investigations encompassing blood lactate, free fatty acids and 3-hydroxy-butyrate, ammoniemia, carnitine and acylcarnitines, aminoacid and urinary organic chromatography. Hyperinsulinism, glycogenosis, fatty acid s-oxydation, carnitine cycle and glycosylation (CDG syndrome) disorders, fructose intolerance, tyrosinemia, organic aciduria may explain hypoglycemia. These diagnosis should be evoked in front of unexplained adult hypoglycemia. Diabetes is related to iron overload, mitochondriopathy and thiamine sensitive diabetes. Clinical spectrum of some forms of IEM switch from hypoglycemia in childhood to diabetes in adulthood. Mitochondriopathies can be associated to all types of endocrine disorders, the most frequent being diabetes and dysthyroidism. Hypothyroidism is encountered in mitochondriopathies, cystinosis and primary hyperoxaluria. Hypogonadism is almost constant in galactosemia, frequent in CDG syndromes, cystinosis and iron overload. Most of the time, a specialized advice is required, which is one of the mission of reference centres.

Hypoglycémie et insulinome

Abstract: Insulinomas are rare causes of hypoglycemia. After having ruled out non insulinomatous causes of hypoglycemia in a patient in whom Whipple's triad is documented, hyperinsulinism must be demonstrated biochemically, either during a spontaneous hypoglycemic episode or, more often, during a supervised fast which may be prolonged up to 72 h. A mixed-meal test may also help to diagnose the very rare cases of postprandial hypoglycemia related to non insulinoma pancreatogenic hypoglycemic syndrome (NIPHS) or to some rare insulinomas. Only when diagnosis of hypoglycemic hyperinsulinism is made, the tumor localization process may be initiated. This may be difficult due to the small size of insulinomas (generally < 1 cm). Multimodal approach is necessary. The association of endoscopic ultrasound and CT-scan or MRI seems optimal. Octreoscan will be also performed. First results with a very new technique, the GLP-1 receptor imaging, are promising for localizing very small tumors. This localization aims to allow a sparing surgery; enucleation of benign tumors, if possible, allows a pancreatic tissue preservation in patients with quite normal survival.