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52 Communications affichées / Annale
15
rofil clinique et génétique de l’hypogonadismeypogonadotrophique congénital isolé : série tunisienneim Braham a,∗, Houda Tajouri a, Molka Chaieb a, Sihem Trimeche a,mel Maaroufi a, Maha Kacem a, Koussay Ach a, Catherine Dodé b,arbi Chaieb a
Service d’endocrinologie, CHU Farhat-Hached, 4000 Sousse, TunisieService de biochimie et génétique moléculaire, hôpital Cochin, Paris, France
dresse e-mail : Braham [email protected] (R. Braham)’hypogonadisme hypogonadotrope congénital isolé (HHCI) est une pathologiendocrinienne d’origine génétique. Nous distinguons le syndrome de KallmannSK) quand il y a un trouble de l’olfaction et l’HHCI sans anosmie.ous avons réalisé une étude transversale descriptive afin d’évaluer le profil cli-ique et génétique de 43 patients atteints d’HHCI dont 26 hommes et 17 femmes.ous avons retrouvé une prédominance masculine dans notre série et le motif de
onsultation le plus fréquent était le retard pubertaire. L’examen clinique avaitévélé un hypogonadisme de degré variable avec une prédominance de patientsmpubères. Le micropénis et la cryptorchidie étaient les principaux motifs deonsultation dans la population masculine.ous avons relevé les signes cliniques associés tels que le palais ogival, la
yphoscoliose, le pectus excavatum, l’épilepsie et le retard mental.u terme de notre étude génétique, 11 patients étaient considérés porteurs duK tous porteurs de mutations dont 4 touchant le gène PROKR2, une muta-
ion touchant chacun des gènes suivants : PROK2, TACR3 et GnRH1R ainsiue 7 polymorphismes du gène KISS1R dont 4 étaient en digénie avec desutations précités et 3 en monogénie. À noter que nous avons le première
unuque fertile décrit dans la littérature portant la mutation PROKR2. Parmies 32 patients appartenant au sous-groupe de patients atteints d’HHCI sansnosmie, 10 présentaient au moins une mutation dont 4 mutations TACR3 avecnouveaux variants alléliques (M601I et K286R), 5 mutations GnRH1R etpolymorphismes du gène KISS1R.ous allons discuter l’importance de la corrélation phénotype génotype dans larise en charge des patients atteints d’HHCI.
oi:10.1016/j.ando.2012.03.018
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esmopressin and non-steroidal anti-inflammatory drugs:case report of severe water intoxication during
eplacement therapylisa Verrua a, Giovanna Mantovani a, Andrea Noto b, Emanuele Ferrante a,lisa Sala a,∗, Elena Malchiodi a, Gaetano Iapichino b,c, Paolo Beck-Peccoz a,nna Spada a
Department of Medical Sciences, University of Milan, Endocrinology andiabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggioreoliclinico, Padiglione Granelli, Via F. Sforza 35, 20122 Milan, ItalyAnesthesia and Intensive Care Unit Ospedale San Paolo, Milan, ItalyDepartment of Anesthesiology, Intensive Care and Dermatological Sciences,niversity of Milan, Milan, Italy
dresse e-mail : [email protected] (E. Sala)ntroduction.– Most of the clinical data on safety profile of desmopressinDDAVP), i.e. an effective treatment of both polyuric conditions and bleedingisorders, originates from studies on tailoring of drug treatment, whereas feweports describe severe side effects secondary to pharmacological interaction.ere we describe a case of severe hyponatremia complicated with seizure and
oma due to the intake of non-steroidal anti-inflammatory drugs (NSAIDs)n a patient on DDAVP replacement therapy for central diabetes insipidusDI).ase report.– We report a 50-yr-old Caucasian man, with congenital centralI, who developed an episode of generalized tonic-clonic seizure, resulting in
oma immediately after being admitted to the Emergency Unit for weakness andmesis. The medical history (negative for seizure or other clinical problems) andlinical findings, (including toxicological screening, general blood exams, chest
-ray and brain CT scan) were all negative. On these findings water intoxicationecondary to ketoprofen intake (200 mg/day for the last 3 days) concomitant withDAVP replacement therapy (Minirin® 60 mcg 4 tablets a day) was hypothe-
A
ndocrinologie 73 (2012) 147–153
ized as cause of the severe euvolemic hypotonic hyponatremia (natremia 113Eq/l, plasma osmolality 238 mOsm/Kg), associated to metabolic lactic acido-
is and rhabdomyolysis. After emergency procedures, the aquaretic tolvaptanSamsca® 7.5 mg) was administered and hydratation was maintained accordingo water excretion. He completely recovered in 72 hours.onclusions.– Contrary to the several hyponatremic states reported in patientsn DDAVP for different indications, no study has highlighted the potentiallyife-threatening side effects associated with over-the-counter NSAIDs duringDAVP replacement therapy for central diabetes insipidus so far. Risks andenefits of co-treatment should be carefully considered and therapeutic alterna-ives to NSAIDs should be recommended to patients with central DI, in order tomprove DDAVP safety.
oi:10.1016/j.ando.2012.03.019
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n unusual association between Neurofibromatosis type1NF1), prolactinoma and pheochromocytomaberta Verga a,∗, Benedetta Masserini a, Liborio Vaccaluzzo a,arcello Filopanti a, Michela Perrino a, Federica Natacci b, Anna Spada a,
aolo Beck-Peccoz a
Department of Medical Sciences Unit of Endocrinology and Diabetology,niversità degli Studi di Milano, Fondazione IRCCS Ca’ Granda, Ospedaleaggiore Policlinico, Via F. Sforza 35, 20122 Milan, ItalyDepartment of Woman, Child and Neonate Health, Clinical Genetics Unit,ondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milano, Italy
dresse e-mail : [email protected] (U. Verga)F1 is an autosomal dominant disorder caused by heterozygous mutation of theF1 gene. This condition is associated with increased susceptibility to tumors,
ncluding endocrine related tumors, in particular pheochromocytoma, pancrea-ic endocrine tumors, duodenal carcinoids. In this abstract the case of unusualssociation between NF1, prolactinoma and pheochromocytoma is described.35-year-old Caucasian man with NF-1 (c.586 + 4insA in exon 4b) was referred
o our Institution from Medical Genetic Unit. As routine evaluation of NF-1 henderwent an encephalic MRI that showed a 18 mm pituitary adenoma in theight side of the gland. The biochemical findings showed hyperprolactinemia175 ng/ml, nv < 25) and hypogonadotropic hypogonadism. Macroprolactin wasegative.abergoline therapy was started and gradually increased to 4.5 mg/week. Prolac-
in levels decreased (68.7 ng/mL) without normalization and testosterone levelsncreased into the normal range.
RI, performed 2 years later, showed a significant shrinkage of adenoma (7 mm)nstead. Due to the poor tolerance, carbergoline was decreased to 2.5 mg/week.
ith this dose the levels of PRL and MRI remained unvaried, testosterone at theow range of normality and fertility was preserved.uring the follow-up, US abdomen scan showed the presence of a 20 mm massn the left adrenal gland, then confirmed by TC scan. Biochemical findingshowed increased level of epinephrine (79 mcg/24 h, nv < 40) and metanephrine458.8 mcg/L, nv 20–345). The patient underwent a 123I-labeled MIBG scin-igraphy that documented an higher uptake of the adrenal mass. The patientuccessfully underwent left adrenalectomy. The histological findings confir-ed the diagnosis of pheochromocytoma without angio invasivity and capsular
nfiltration.ne year later the patient showed normal pituitary function, normal levels ofetanephrines, but PRL levels constantly above upper normal range. Due to
aternity desire and preserved fertility we decided to postpone pituitary surgery.
oi:10.1016/j.ando.2012.03.020
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ne cause rare d’aménorrhée chez une jeune femme auiagnostic récent de sarcoïdoserance Devuyst ∗, Danielle Balériaux , Caliope Maris , Sergio Hassid ,
Faculté de médecine, université Libre de Bruxelles, hôpital Erasme, Belgique
dresse e-mail : [email protected] (F. Devuyst)
