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Attal P.,Assistance Publique Hopitaux de Paris | Attal P.,University Paris - Sud | Chanson P.,Service dendocrinologie et des maladies de la reproduction | Chanson P.,University Paris - Sud | Chanson P.,French Institute of Health and Medical Research
Journal of Clinical Endocrinology and Metabolism | Year: 2010

Context: Some endocrine and metabolic disorders are associated with a high frequency of obstructive sleep apnea (OSA), and treatment of the underlying endocrine disorder can improve and occasionally cure OSA. On the other hand, epidemiological and interventional studies suggest that OSA increases the cardiovascular risk, and a link between OSA and glucose metabolism has been suggested, via reduced sleep duration and/or quality. Evidence Acquisition: We reviewed the medical literature for key articles through June 2009. Evidence Synthesis: Some endocrine and metabolic conditions (obesity, acromegaly, hypothyroidism, polycystic ovary disease, etc.) can be associated with OSA. The pathophysiological mechanisms of OSA in these cases are reviewed. In rare instances, OSA may be improved or even cured by treatment of underlying endocrine disorders: this is the case of hypothyroidism and acromegaly, situations in which OSA is mainly related to upper airways narrowing due to reversible thickening of the pharyngeal walls. However, when irreversible skeletal defects and/or obesity are present, OSA may persist despite treatment of endocrine disorders and may thus require complementary therapy. This is also frequently the case in patients with obesity, even after substantial weight reduction. Conclusions: Given the potential neurocognitive consequences and increased cardiovascular risk associated with OSA, specific therapy such as continuous positive airway pressure is recommended if OSA persists despite effective treatment of its potential endocrine and metabolic causes. Copyright © 2010 by The Endocrine Society. Source

Kamenicky P.,Service dendocrinologie et des maladies de la reproduction | Lecoq A.-L.,University Paris - Sud | Chanson P.,French Institute of Health and Medical Research
Annales d'Endocrinologie | Year: 2016

Primary hyperparathyroidism (PHPT) is one of the most common endocrine disorders in the general population but is rarely diagnosed during pregnancy. Symptoms of gestational PHPT may be unrecognized, or masked by physiological changes in calcium homeostasis associated with pregnancy. Gestational PHPT may have severe consequences for both mother and fetus. However, nowadays, gestational PHPT is usually diagnosed in earlier stages and milder forms, with low complication rates. Treatment should be individually tailored according to gestational age, the severity of hypercalcemia, and the risk-benefit balance. The conservative approach is preferred in mild forms, whereas surgery, usually performed during the second trimester, is reserved for symptomatic hypercalcemic PHPT. Given the young age of the patients, genetic causes should be considered. © 2016. Source

Miraoui H.,University of Lausanne | Miraoui H.,Massachusetts General Hospital | Dwyer A.A.,University of Lausanne | Dwyer A.A.,Massachusetts General Hospital | And 36 more authors.
American Journal of Human Genetics | Year: 2013

Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. Among the >15 genes implicated in these conditions, mutations in FGF8 and FGFR1 account for ∼12% of cases; notably, KAL1 and HS6ST1 are also involved in FGFR1 signaling and can be mutated in CHH. We therefore hypothesized that mutations in genes encoding a broader range of modulators of the FGFR1 pathway might contribute to the genetics of CHH as causal or modifier mutations. Thus, we aimed to (1) investigate whether CHH individuals harbor mutations in members of the so-called "FGF8 synexpression" group and (2) validate the ability of a bioinformatics algorithm on the basis of protein-protein interactome data (interactome-based affiliation scoring [IBAS]) to identify high-quality candidate genes. On the basis of sequence homology, expression, and structural and functional data, seven genes were selected and sequenced in 386 unrelated CHH individuals and 155 controls. Except for FGF18 and SPRY2, all other genes were found to be mutated in CHH individuals: FGF17 (n = 3 individuals), IL17RD (n = 8), DUSP6 (n = 5), SPRY4 (n = 14), and FLRT3 (n = 3). Independently, IBAS predicted FGF17 and IL17RD as the two top candidates in the entire proteome on the basis of a statistical test of their protein-protein interaction patterns to proteins known to be altered in CHH. Most of the FGF17 and IL17RD mutations altered protein function in vitro. IL17RD mutations were found only in KS individuals and were strongly linked to hearing loss (6/8 individuals). Mutations in genes encoding components of the FGF pathway are associated with complex modes of CHH inheritance and act primarily as contributors to an oligogenic genetic architecture underlying CHH. © 2013 The American Society of Human Genetics. Source

Kamenicky P.,Service dendocrinologie et des maladies de la reproduction | Lombes M.,French Institute of Health and Medical Research | Chanson P.,University Paris - Sud
Annales d'Endocrinologie | Year: 2010

This review focuses on new aspects in growth hormone (GH) biology and pathophysiology presented at the Endocrine Society's meeting, in San Diego, in June 2010. First, we will describe recent advances in the understanding of cytokine hormone signaling via STAT5 in mammary gland development, highlighting the primary role of miR193b for differentiation of mammary stem cells into alveolar progenitor cells. We will examine the potential implication of endocrine and autocrine GH for mammary gland carcinogenesis. Three novel murine models bearing tissue-specific inactivation of GH receptor or JAK2 bring new insights into the large spectrum of GH effects on energy homeostasis. We will also report new data supporting a paracrine regulation of GH secretion in women by estrogen's action in the brain. Thereafter we will question the reasons for GH abuse for doping by assessing the hormonal impact on body composition and physical performance in recreational athletes. Finally, we will discuss the controversial issue of GH replacement in acromegalic patients presenting GH deficiency after treatment of acromegaly. © 2010 Elsevier Masson SAS. Source

Trabado S.,University Paris - Sud | Trabado S.,Laboratoire Of Genetique Moleculaire | Trabado S.,French Institute of Health and Medical Research | Maione L.,University Paris - Sud | And 15 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2014

Context: Insulin-like factor 3 (INSL3) is a testicular hormone secreted during fetal life, the neonatal period, and after puberty. Objective: To measure INSL3 levels in a large series of men with congenital hypogonadotropic hypogonadism (CHH)/ Kallmann syndrome (KS), in order to assess its diagnostic value and to investigate its regulation. Patients: We studied 281 CHH/KS patients (91 untreated, 96 receiving T, and 94 receiving combined gonadotropin therapy [human chorionic gonadotropin, hCG, and FSH]) and 72 age-matched healthy men. Methods: Serum INSL3 was immunoassayed with a validated RIA. Results: Mean (-SD) INSL3 levels (pg/mL) were 659 - 279 in controls and lower (60 - 43; P < .001) in untreated CHH/KS patients, with no overlap between the two groups,whenthe threshold of 250 pg/mL was used. Basal INSL3 levels were lower in both untreated CHH/KS men with cryptorchidism than in those with intrascrotal testes and in patients with testicular volumes below 4 mL. Significant positive correlations between INSL3 and both serum total T and LH levels were observed in untreated CHH/KS. Mean INSL3 levels remained low in T-treated CHH/KS patients and were significantly higher in men receiving combined hCG-FSH therapy (P < .001), but the increase was lower cryptorchid patients. FSH-hCG combination therapy or hCG monotherapy, contrary to T and FSH monotherapies, significantly increased INSL3 levels in CHH/KS. Conclusions: INSL3 is as sensitive a marker as T for the evaluation of altered Leydig cell function in CHH/KS patients. INSL3 levels correlate with LH levels in CHH/KS men showing, together with the rise in INSL3 levels during hCG therapy, that INSL3 secretion seems not constitutively secreted during adulthood but is dependence on pituitary LH. Copyright © 2014 by the Endocrine Society. Source

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