Blog - INTERNET MÉDICA

Síndrome de Klinefelter Online (Klinefelter Syndrome)

Por Paulo Leite 04/10/2018

¨A síndrome de Klinefelter (SK) é a causa mais comum de hipogonadismo masculino e a anomalia de cromossomos sexuais mais comum em homens, com uma prevalência estimada de um em cada 600 homens nascidos vivos. Caracteriza-se citogeneticamente pela presença de um cromossomo X extra (47,XXY), que ocorre em cerca de 90% dos casos; porém, variantes da SK, como o mosaicismo (46,XY/47,XXY) e outras aneuploidias mais raras (48,XXXY, 48,XXYY, 49,XXXXY) já foram descritas. Os achados clínicos principais, presentes em quase todos os indivíduos com SK, são os testículos pequenos, a azoospermia e o aumento das gonadotrofinas, em especial do follicle stimulating hormone (FSH); porém, outros achados, como ginecomastia, atraso puberal, pilificação pubiana e corporal diminuídas, micropênis, alta estatura, aumento da envergadura em relação à estatura, distúrbios de aprendizado, doenças psiquiátricas, doença venosa periférica, obesidade abdominal, síndrome metabólica, maior risco de doenças autoimunes e câncer, podem ser observados com diferentes frequências de acordo com a população avaliada, a faixa etária incluída e o cariótipo encontrado. É uma doença de curso crônico com sérias repercussões sobre o aparelho reprodutor masculino, sendo importante causa de infertilidade em nível mundial. A SK continua sendo uma doença pouco diagnosticada, pois os pacientes procuram pouco os médicos, e os médicos nem sempre estão atentos ao diagnóstico. Por isso, apenas cerca de 25% de todos os pacientes adultos com SK são diagnosticados; a maioria durante a investigação de infertilidade e/ou hipogonadismo; e menos de 10% de todos os casos com SK são diagnosticados antes da puberdade. ¨

■ Klinefelter syndrome in childhood: variability in clinical and molecular findings

N Akcan, S Poyrazoglu, F Bas et AL

J Clin Res Pediatr Endocrinol 2018; 10: 100-107

http://www.jcrpe.org/archives/archive-detail/article-preview/klinefelter-syndrome-in-childhood-variability-in-c/17042

■ Application of neural networks for classification of Patau, Edwards, Down, Turner and Klinefelter syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics

Catic A, Gurbeta L, Kurtovic-Kozaric A, Mehmedbasic S, Badnjevic A.

BMC Med Genomics. 2018 Feb 13;11(1):19

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812210/

■ DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

Anne Skakkebæk, Morten Muhlig Nielsen, Christian Trolle et al

Sci Rep. 2018; 8: 13740

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137224/

■ Next generation sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome

Michele Salemi, Laura Cimino, Marika Marino et AL

Int J Med Sci. 2018; 15(1): 31–35

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765737/

■ Aberrant ocular architecture and function in patients with Klinefelter syndrome

Cristin Brand, Michael Zitzmann, Nicole Eter et al

Sci Rep. 2017; 7: 13130

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640645/

■ The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

Anne Skakkebæk, Philip J. Moore, Anders Degn Pedersen et al

Brain Behav. 2017 Mar; 7(3): e00645

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346527/

■ Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

Bonomi, V. Rochira, D. Pasquali, G. Balercia et al

On behalf of the Klinefelter ItaliaN Group (KING)

J Endocrinol Invest. 2017; 40(2): 123–134

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5269463/

■ Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

Kirstine Belling, Francesco Russo, Anders B. Jensen et al

Hum Mol Genet. 2017 Apr 1; 26(7): 1219–1229

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390676/

■ Effects of oxandrolone on cardiometabolic health in boys with Klinefelter syndrome: a randomized controlled trial

S M Davis, M G Cox-Martin, M Z Bardsley et al

The Journal of Clinical Endocrinology & Metabolism 2017, vol 102 (1): 176-184

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413098/

■ A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome

N S M Nor, M Y Jalaludin

Int J Pediatr Endocrinol 2016, 2016: 11

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4890323/

■ High risk of venous thromboembolism in Klinefelter syndrome

Bengt Zöller, Jianguang Ji, Jan Sundquist, Kristina Sundquist

J Am Heart Assoc. 2016 May; 5(5): e003567

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889210/

■ Klinefelter syndrome hás increased brain response to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

Mikkel Wallentin, Anne Skakkebæk, Anders Bojesen et al

Neuroimage Clin. 2016; 11: 239–251

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773384/

■ Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic with non-mosaic Klinefelter syndrome

Sandra E. Kleiman, Leah Yogev, Ofer Lehavi et al

J Assist Reprod Genet. 2016 Jun; 33(6): 807–814

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889481/

■ Bone mineral status in children and adolescents with Klinefelter syndrome

Stefano Stagi, Mariarosaria Di Tommaso, Cristina Manoni et al

Int J Endocrinol. 2016; 2016: 3032759

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927985/

■ Advances in the interdisciplinary care of children with Klinefelter syndrome

Shanlee Davis, Susan Howell, Rebecca Wilson, Tanea Tanda, Judy Ross, Philip Zeitler, Nicole Tartaglia

Adv Pediatr. 2016 Aug; 63(1): 15–46

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340500/

■ Testis development and reproductive options in males with Klinefelter syndrome

Shanlee M. Davis, Alan D. Rogol, Judith L. Ross

Endocrinol Metab Clin North Am. 2015 Dec; 44(4): 843–865

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648691/

■ Testicular parenchymal abnormalities in Klinefelter syndrome: a question of cancer? Examination of 40 consecutive patients

Giacomo Accardo, Gianfranco Vallone, Daniela Esposito et al

Asian J Androl. 2015 Jan-Feb; 17(1): 154–158

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291860/

■ Factors associated with adaptation to Klinefelter syndrome: the experience of adolescents and adults

Amy Turriff, Howard P. Levy, Barbara Biesecker

Patient Educ Couns. 2015 Jan; 98(1): 90–95

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5160995/

■ Mild deficits of cortical bone in adults with Klinefelter syndrome or anorchia treated with testosterone

S Choong Wong, D Scott, A Lim et al

The Journal of Clinical Endocrinology & Metabolism 2015, vol 100 (9)

https://academic.oup.com/jcem/article/100/9/3581/2830530

■ Antropometry in Klinfelter syndrome – multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

S Chang, A Dkakkebaek, C Trolle et al

The Journal of Clinical Endocrinology & Metabolism 2015, vol 100 (3)

https://academic.oup.com/jcem/article/100/3/E508/2840006

■ Comorbidity between Klinefelter syndrome and diaphragmatic hernia

C M Valdez et al

Sao Paulo Med. J., 2014, vol.132, no.5, p.311-313

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802014000500311&lng=pt&nrm=isso

■ Homicide and Klinefelter syndrome: a complex interaction.

Richard-Devantoy, Stéphane et al.

Rev. Bras. Psiquiatr., May 2014, vol.36, no.2, p.153-156

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-44462014000200153&lng=en&nrm=iso

■ Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report.

Valdez, Carolina Melendez et al.

Sao Paulo Med. J., 2014, vol.132, no.5, p.311-313

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802014000500311&lng=en&nrm=iso

■ The role of hypogonadism in Klinefelter syndrome

Christian Høst, Anne Skakkebæk, Kristian A Groth, Anders Bojesen

Asian J Androl. 2014 Mar-Apr; 16(2): 185–191

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3955327/

■ Homicide and Klinefelter syndrome: a complex interaction.

Richard-Devantoy, Stéphane et al.

Rev. Bras. Psiquiatr., May 2014, vol.36, no.2, p.153-156

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-44462014000200153&lng=en&nrm=iso

■ Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated

Eberhard Nieschlag

Dtsch Arztebl Int. 2013 May; 110(20): 347–353

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674537/

■ Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome

M Ziltzmann, R Bongers, S Werler et al

The Journal of Clinical Endocrinology & Metabolism 2013, vol 100 (3)

https://academic.oup.com/jcem/article/100/3/E518/2840008

■ Síndrome de Klinefelter: diagnóstico raro na faixa etária pediátrica

Tincani, Bruna J. et al.

Pediatr. (Rio J.), Ago 2012, vol.88, no.4, p.323-327

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572012000400008&lng=en&nrm=iso

■ Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome

Martha Z Bardsley, Bonita Falkner, Karen Kowal, Judith L Ross

Acta Paediatr. 2011 Jun; 100(6): 866–870

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164507/

■ Klinefelter syndrome – a clinical update

K A Groth, A Skakkebaed, C Host et al

The Journal of Clinical Endocrinology & Metabolism 2013, vol 98 (1): 20-30

https://academic.oup.com/jcem/article/98/1/20/2823039

■ Leg ulcers associated with Klinefelter´s syndrome: a case report and review of the literature

V K Shanmugam, K C Tsagaris, C E Attinger

Int Wound J 2012, vol 9 (1): 104-107

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664240/

■ Klinefelter syndrome presenting as behavioral problems in a young adult

Alexandra M. Molnar, Genji S. Terasaki, John K. Amory

Nat Rev Endocrinol. 2010 Dec; 6(12): 707–712

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271651/

■ Síndrome de Klinefelter en las distintas edades: experiencia multicêntrica

Pacenza, N. et al.

Rev. argent. endocrinol. metab., Dic 2010, vol.47, no.4, p.29-3

http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1851-30342010000400005&lng=es&nrm=iso

■ The cognitive phenotype in Klinefelter syndrome: a review of the literature incluing genetic and hormonal factors

Richard Boada, Jennifer Janusz, Christa Hutaff-Lee, Nicole Tartaglia

Dev Disabil Res Rev. 2009; 15(4): 284–294

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056507/

■ Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis

Carvalho, Daniel R., Trad, Clovis S. and Pina-Neto, João M.

Arq. Neuro-Psiquiatr., June 2006, vol.64, no.2a, p.303-30

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000200024&lng=en&nrm=iso&tlng=en

■ Klinefelter syndrome

D J Watterndor, M Muenke

Am Fam Physician 2005, vol 72 (11): 2259-2262

https://www.aafp.org/afp/2005/1201/p2259.html

■ Mortality in patients with Klinefelter syndrome in Britain: a cohort study

A J Swerdlow, C D Higgins, M J Schoemarker et al

The Journal of Endocrinology & Metabolism 2005, vol 90 (12): 6516-6522

https://academic.oup.com/jcem/article/90/12/6516/2837167

■ Síndrome de Klinefelter associada a lupus eritematoso sistêmico: Interferência dos esteróides sexuais.

Rangel, Arquimedes de A. et al.

Arq Bras Endocrinol Metab, Jun 2002, vol.46, no.3, p.299-30

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302002000300014&lng=pt&nrm=iso

■ Diagnóstico tardio da síndrome de Klinefelter : relato de caso.

Maia, Frederico F.R. et al.

Arq Bras Endocrinol Metab, Jun 2002, vol.46, no.3, p.306-309

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302002000300015&lng=pt&nrm=iso

by Dr Paulo Fernando Leite

■ Cardiologia/Prevenção Cardiovascular

■ Estratificação de Risco Cardiovascular

Av Contorno 8351 – Conj 01

Belo Horizonte/MG/Brasil

Tel: 31 32919216 2917003 3357229

(- consulta particular –)

CRMMG: 7026

Email: pfleite1873@gmail.com

Síndrome de Kounis Online (Kounis´s syndrome)

Por Paulo Leite 04/10/2018

A síndrome de Kounis é definida como a ocorrência concomitante de reação alérgica e síndrome coronariana aguda secundária ao vasoespasmo. Duas variantes foram descritas: tipo I, que ocorre em pacientes com artérias coronárias normais, e tipo II, que ocorre em pacientes com doença ateromatosa da artéria coronária angiograficamente mostrada, nos quais a reação alérgica pode ocorrer e provocar ruptura da placa de ateroma, além de vasoespasmo. Várias condições foram relatadas como capazes de induzir a síndrome de Kounis, incluindo medicamentos, alimentos, picada de mosquito, exposições ambientais. O mecanismo pelo qual esses alérgenos produzem vasoespasmo coronariano é por meio da degranulação de mastócitos e, finalmente, pela liberação de mediadores vasoativos (histamina, leucotrienos, serotonina) e proteases (triptase, quinase). Apesar disso, a síndrome de Kounis continua sendo uma entidade subdiagnosticadaque deveria ser considerada no diagnóstico diferencial de choque cardiogênico. Seria útil aprimorar o seu diagnóstico para descartar a reação alérgica como uma possível causa em todos os pacientes de serviços de emergência que apresentam dor torácica e elevação do segmento ST no eletrocardiograma. O tratamento atual recomendado é a terapia combinada para síndrome coronariana aguda e anafilaxia, tendo em mente que alguns medicamentos usados para tratar a síndrome coronariana podem agravar a reação anafilática e vice-versa.¨

■ Kounis syndrome induced by amoxicillin following vasospatistic coronary event in a 22-year-old patient: a case report

S Pradhan, M Christ, H Trappe

CardiovascDiagnTher 2018, vol 8 (2)? 180-185

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951989/

■ Síndrome de Kounis, a propósito de um caso.

Méndez-Betancourt, Johan L et al.

Acta méd. Peru, Ene 2018, vol.35, no.1, p.65-70

http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S1728-59172018000100011&lng=en&nrm=iso

■ Allergic angina syndrome in anesthesia and diabetes

N G Kounis, I Koniari, G Tzanis et al

Indian J Crit Care MEd 2018, vol 22 (2): 128-129

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842458/

■ Kounis syndrome, a disease to know: case report and review of the literature

E Sciatti, E Vizzardi, D S Cani et al

Monaldi Arch Chest Dis 2018, vol 88 (1): 898

https://www.monaldi-archives.org/index.php/macd/article/view/898/819

■ Síndrome de Kouniso angina alérgica

Villamil-Munovar, Pablo Alejandro and Sanchez-Solanilla, Luis F

Rev. Colomb. Cardiol., Ago 2017, vol.24, no.4, p.382-387

http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-56332017000400382&lng=en&nrm=iso

■ Allergic angina: a new addition to the differential diagnosis and pathophysiology of chest pain

O Culpepper, M Jerger, S Belen et al

JACC 2018, vol 71 (11)

http://www.onlinejacc.org/content/71/11_Supplement/A2185

■ Síndrome de Kounis, el tipo de infarto olvidado?

Lozano-Cruz, Patricia et al.

Rev. Colomb. Cardiol., Abr 2017, vol.24, no.2, p.197-198

http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-56332017000200197&lng=en&nrm=iso

■ Type 1 Kounis syndrome in a patient with idiopathic anaphylaxis

Monica Sandhu, Jason Casselman, Brian Peppers et al

Allergy Rhinol (Providence) 2017 Jun; 8(2): e103–e104

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468754/

■ Early stent thrombosis secondary to food allergic reaction: Kounis syndrome following rice pudding ingestion

GeorgiosTzanis, Maria Bonou, NikolaosMikos et al

World J Cardiol. 2017 Mar 26; 9(3): 283–288

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368679/

■ Kounis syndrome and systemic mastocytosis in a 52-year-old man having surgery

Marina Lerner, Raveen S. Pal, RozitaBorici-Mazi

CMAJ. 2017 Feb 6; 189(5): E208–E211

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289872/

■ Type 1 Kounis syndrome in patient with idiopathic analphylaxis

TajdaKeber, Jana Makuc, GregorSekavčnik

Case Rep Cardiol. 2017; 2017: 1089023

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306988/

■ Thrombotic responses to coronary stents, bioresorbable scaffolds and the Kounis hypersensitivity-associated acute thrombotic syndrome

Nicholas G. Kounis, IoannaKoniari, AnastasiosRoumeliotis et al

J Thorac Dis. 2017 Apr; 9(4): 1155–1164

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418277/

■ Preventing Kounis syndrome by stent implantation: a reciprocal process?

Nicholas G. Kounis, IoannaKoniari, Nicholas Patsouras, George Hahalis

Anatol J Cardiol. 2017 Sep; 18(3): 238

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5689058/

■ Ampicillin/sulbactam-induced Kounis syndrome with cardiogenic shock

Nicholas G. Kounis, IoannaKoniari

Anatol J Cardiol. 2017 Feb; 17(2): 154–155

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5336756/

■ Management of Kounis syndrome: two case reports

MajdiOmri, HajerKraiem, OlfaMejri, MounirNaija, NaoufelChebili

J Med Case Rep. 2017; 11: 145

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440976/

■ In-stent restenosis and thrombosis due to metal hypersensitivity implications for Kounis syndrome

IoannaKoniari, Nicholas G. Kounis, George Hahalis

J Thorac Dis. 2016 Nov; 8(11): 3056–3058

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5179401/

■ Exercise-induced urticarial cholinergic urticarial, and Kounis syndrome

Nicholas G. Kounis, George N. Kounis, George D. Soufras

J PharmacolPharmacother. 2016 Jan-Mar; 7(1): 48–5

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831493/

■ Multiple bee stings resulting in ST elevation myocardial infarction (the Kounis syndrome)

Joseph R. Pelli, Jr., J. Scott Wieters, BahromFirozgary, Timothy Montalvo

Proc (BaylUniv Med Cent) 2016 Jul; 29(3): 298–300.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900775/

■ Complicações cardíacas em síndrome de Kounis tipo I induzida por metamizol.

Juste, Jose F. Martínez et al

Rev. Bras. Anestesiol., Apr 2016, vol.66, no.2, p.194-196

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-70942016000200194&lng=en&nrm=iso&tlng=pt

■ Kounis syndrome and systemic mastocytosis in a 52-year-old man having surgery

M Lerner, R S Pal, R Borici-Mazi

CMAJ august 2016

http://www.cmaj.ca/content/early/2016/08/02/cmaj.151314

■ Allergic acute coronary syndrome (Kounis syndrome)

SarfarazMemon, Lovely Chhabra, ShihabMasrur, Matthew W. Parker

Proc (BaylUniv Med Cent) 2015 Jul; 28(3): 358–362

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462222/

■ Allergic angina following wasp sting: Kounis syndrome

Prem Krishna Anandan, Natesh B. Hanumanthappa, Prabhavathi Bhatt et al

Oxf Med Case Reports. 2015 Jun; 2015(6): 306–308

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4584504/

■ Acute myocarditis or the Kounis syndrome: role of cardiac MRI and speckle-tracking echocardiography in diagnosis

OguzKaraca, BeytullahCakal, SinemDenizCakal, Muhsin Turkmen

Res Cardiovasc Med. 2014 Nov; 3(4): e25715.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347723/

■ A case with repeated recurrent acute coronary syndrome due to pseudoephedrine use: Kounis syndrome

MetinÇeliker, Mustafa Tuncer, Ali Şekeralmaz

Case Rep Med. 2014; 2014: 742905

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243469/

■ Anaphylactic cardiovascular collapse during hemodialysis: Kounis syndrome in the dialysis room

Andreas Mazarakis, Konstantinos Bardousis, George Almpanis et al

World J Cardiol. 2014 Oct 26; 6(10): 1131–1134

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209441/

■ The more allergens and atopic patient is exposed to, the easier and quicker analphylactic shock and Kounis syndrome appear: clinical and therapeutic paradoxes