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PubMed | Laboratoire, Service de reanimation., Unite dendocrinologie. and Center Hospitalier Of La Region Dannecy Genevois
Type: Journal Article | Journal: Annales de biologie clinique | Year: 2017

We present the case of an Addisons disease revealed by a serious hyponatremia. The serum concentration of ACTH and 21-hydroxylase antibodies were increased and lead to the diagnosis. The cortisol blood level was lowered but required to take into account the stress induced by the hospitalisation of the patient. Addisons disease is characterized by the destruction of the adrenal cortex. Autoimmune adrenalitis is the main cause of adrenal insufficiency. Treatment involves normalisation of sodium concentration and corticosteroids replacement. With a good patient compliance, the survival rate of Addisonian patient is similar to that of the normal population. Management of patient requires vigilance because of the occurrence of others autoimmunes diseases during patient life.

Bouvattier C.,University Paris - Sud | Pienkowski C.,Unite dEndocrinologie
Early Puberty: Latest Findings, Diagnosis, Treatment, Long-term Outcome | Year: 2015

This book focuses on the state of the art in fully grasping precocious puberty and its consequences, incorporating advances in the areas of endocrinology, genetics, imaging and therapeutics to offer an indispensable tool for all physicians interested in the latest advances in this field. The authors present the latest findings on early puberty in girls and boys. The dynamic process of maturation is influenced by many signals and reshapes growing children's role within their environment. Readers will benefit from the educational value and level of depth of the individual chapters; written by respected experts and in a self-contained format, they can also be read separately to address specific interests. © Springer International Publishing Switzerland 2016. All rights are reserved.

PubMed | Caen University Hospital Center, CHU dAmiens, Institute Of Genetique Medicale, University of Picardie Jules Verne and 2 more.
Type: Case Reports | Journal: Annales d'endocrinologie | Year: 2015

Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated.

The role of GLP-1 receptor agonists (GLP1-RA), known as 'incretin effect', has been proved in type 2 diabetic subjects, not only on the improvement of the glycemic profile but also on a progressive weight loss and it was confirmed in obese non-diabetic patients as well. Increase of insulin secretion and decrease of the postprandial glucagon are found among the already described mechanisms. In addition, GLP-1 induces a decrease of cellular apoptosis, a ß-pancreatic cells' mass protection, an immunomodulation and an antiinflammatory effect in mice. This mechanism could explain the beneficial effect of GLP1-RA in type 1 diabetic patients, as described in the literature, especially the pediatric one. The gastric bypass may improve the glycemic profile of type 2 diabetic subjects, probably through an increase of postprandial GLP-1 secretion over the major effect of a substantial weight loss. We evoke the hypothesis that a perturbation of postprandial glycemia after gastric bypass at a type 1 diabetic patient, might be due to a deficit of GLP-1 in this population. We show the beneficial effect of the association between GLP1-RA and insulin therapy in a type 1 diabetic patient operated for a gastric bypass. Maybe we should talk not only about a defect of insulin but also of incretin secretion in the definition of type 1 diabetes. Extensive studies should explore this association. © 2014 - Elsevier Masson SAS - Tous droits réservés.

Pienkowski C.,Unite dEndocrinologie | Kalfa N.,Montpellier University Hospital Center
Journal de Gynecologie Obstetrique et Biologie de la Reproduction | Year: 2013

Ovarian tumors in childhood are rare, often organic with 10% of malignant cases. Functional pathology dominates in adolescence and its management is the same as the adult. The clinical symptoms of PBOT (presumed benign ovarian tumor) are non-specific. The main clinical signs are acute pain, associated with peritoneal irritation syndrome, which can suggest an ovarian torsion, a mass or the development of secondary sexual characters. Hyperestrogenemia suggests a McCune-Albright syndrome or a granulosa tumor. Hyperandrogenism evokes a malignant tumor. Pelvic ultrasound is the main examination. Pure liquid cysts are benign but could be organic if persisting beyond 6 months. MRI and tumor markers are needed for heterogeneous cyst diagnosis. The protected extraction of a cyst is recommended during the laparoscopic cystectomy. If case of doubt of malignancy, laparoscopy allows the peritoneal cavity exploration. In case of torsion, ovarian untwisting must be performed. After untwisting, the ovary must be preserved because macroscopic aspect is not predictive of the ovarian function recovery. No medical treatment is effective. After resection, US follow up is required for five years. © 2013 Elsevier Masson SAS. All rights reserved.

Senou M.,Catholic University of Louvain | Khalifa C.,Catholic University of Louvain | Thimmesch M.,Catholic University of Louvain | Jouret F.,Catholic University of Louvain | And 10 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2010

Context: Pendred syndrome is caused by mutations in the gene coding for pendrin, an apical Cl-/I- exchanger. Objective: To analyze intrathyroidal compensatory mechanisms when pendrin is lacking, we investigated the thyroid of a patient with Pendred syndrome. The expression of proteins involved in thyroid hormone synthesis, markers of oxidative stress (OS), cell proliferation, apoptosis, and antioxidant enzymes were analyzed. Results: Three morphological zones were identified: nearly normal follicles with iodine-rich thyroglobulin in the colloid (zone 1.a), small follicles without iodine-rich thyroglobulin in lumina (zone 1.b), and destroyed follicles (zone 2). In zones 1.a, dual oxidase (Duox) and thyroid peroxidase (TPO) were localized at the apical pole, OS and cell apoptosis were absent, but ClC-5 expression was strongly increased. In zones 1.b, Duox and TPOwere aberrantly present and increased in the cytosol and associated with high OS, apoptosis, cell proliferation, and increased expression of peroxiredoxin-5, catalase, and dehalogenase-1 but moderate ClC-5 expression. Conclusion: In conclusion, the absence of pendrin is accompanied by increased ClC-5 expression that may transiently compensate for apical iodide efflux. In more affected follicles, Duox and TPO are relocated in the cytosol, leading to abnormal intracellular thyroid hormone synthesis, which results in cell destruction presumably because intracellular OS cannot be buffered by antioxidant defenses. Copyright © 2010 by The Endocrine Society.

Pienkowski C.,Unite dEndocrinologie | Tauber M.,Unite dEndocrinologie
Endocrine Development | Year: 2016

Depot gonadotropin-releasing hormone (GnRH) analogs represent the first-line therapy in sexual precocity due to central precocious puberty. GnRH analogs desensitize the pituitary and account for the suppression of luteinizing hormone and follicle-stimulating hormone leading to a decrease of sex steroid levels. The conventional indications are central puberty starting before the age of 8 years in girls and 9 years in boys. These indications can be extended to difficult conditions with poor adult height prognosis or marked psychosocial impact. This includes children after irradiation, international adoption, and children with a physical handicap or mental disabilities. There are different formulations of depot preparations of GnRH analogs; long-acting 1- or 3-month forms are widely used in Europe and all are well tolerated with minor side effects. Overweight is often present at the onset of precocious puberty and some etiologies such as hamartomas predispose to obesity, requiring appropriate care for weight control during and after the cessation of GnRH analog treatment. Many studies have reported on the effects on adult height, which seems to be especially beneficial when treatment is started before the age of 6; however, few studies have focused on the establishment of the 1st menstruation, 1st sexual intercourse, socioprofessional outcome and subsequent fertility. © 2016 S. Karger AG, Basel.

El Aziz S.,Unite Dendocrinologie | Skalli S.,Center Hospitalier Lyon Sud | Chadli A.,Unite Dendocrinologie | El Ghomari H.,Unite Dendocrinologie | Farouqi A.,Unite Dendocrinologie
Medecine des Maladies Metaboliques | Year: 2014

Ramadan fasting induces a high metabolic risk in some diabetic patients. Diabetic patients during Ramadan have a high at risk of uncontrolled diabetes and hypoglycemia. Therefore, even if diabetic patient can religiously not fast because of the underlying disease, most of diabetic patients fast with or without consulting their physician, and so without any treatment adjustment. Many recommendations and experts' consensus have tried to establish some guidelines concerning diabetes in Ramadan. Diabetic patients who insist for fasting should have their treatment adapted so they can fast more safely. These adjustments can be done by their doctor before the month of Ramadan, so patients can be informed about their new treatment and self monitoring blood glucose. The following update relates data concerning various recommendations published in recent years regarding diabetes management during Ramadan. © 2014 - Elsevier Masson SAS - Tous droits réservés.

Cartault A.,Unite dEndocrinologie | Caula-Legriel S.,Unite dEndocrinologie | Baunin C.,Service dImagerie Pediatrique | Le Mandat A.,Unite de Chirurgie Viscerale | And 3 more authors.
Endocrine Development | Year: 2012

Ovarian masses are the most frequent gynecological pathology seen in adolescent girls. Functional or organic tumors of the ovary are usually benign and the incidence rises with age. Most cysts are functional and adnexal torsion is the main complication, but a malignant etiology must nevertheless always be eliminated. The clinical presentation is quite variable. Ultrasonography is the investigation of choice: the sonogram will reveal a strictly fluid, benign functional cyst, suggest an adnexal torsion, and provide evidence of a heterogeneous mass. Emergency surgery is indicated only in the case of suspected ovarian torsion, in order to perform detorsion. In all other cases, serum tumor marker measurements will orient the diagnosis and MRI is an essential complement to imaging of tumors with heterogeneous solid components. Surgery and histopathological examination then determine the stage and the benign or malignant nature of the mass. Ovarian tumors are classified by the World Health Organization based on the cell of origin into epithelial tumors, germ cell tumors and sex cord-stromal tumors. Surgery should always follow oncological standards and be as conservative as possible to preserve future fertility. Copyright © 2012 S. Karger AG, Basel.

Pienkowski C.,Unite dEndocrinologie | Cartault A.,Unite dEndocrinologie | Carfagna L.,Unite de Chirurgie Viscerale | Ernoult P.,Unite dEndocrinologie | And 5 more authors.
Endocrine Development | Year: 2012

Visualization of follicles is perfectly physiological during childhood, their diameter generally does not exceed 10 mm. Ovarian cyst in childhood is well defined for a fluid image >20 mm. Generally mild and asymptomatic, ovarian cysts are fluid formations usually discovered incidentally by ultrasound. Some are hormonally active and cause the development of sexual characteristics. The natural history of functional cysts is eventual regression, and persistence is suggestive of organic tumor. The onset of pain is a sign of complication, and an abrupt sharp pain with vomiting is suggestive of ovarian torsion, in which case surgical intervention is urgent. In all cases, the diagnosis is based on pelvic ultrasound. MRI and tumor marker assays are required to determine the nature of an organic cyst before proceeding to surgery. These cysts may appear functional from the fetal period onward and will require management from the first days of life. Certain endocrine disorders such as precocious puberty, hypothyroidism, and aromatase deficiency cause functional cysts in girls. Recurrent bleeding is due to hormonally active cysts and suggests McCune-Albright syndrome. Although the persistence of a cyst suggests a neoplasm, a fluid character indicates benignity. Imagery is a useful aid in the diagnosis of epithelial tumors (cystadenomas) or teratoma (dermoid cyst). Copyright © 2012 S. Karger AG, Basel.

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