Blog - INTERNET MÉDICA

Síndrome de Mayer-Rokitansky-Kuster-Hauser Online (Mayer-Rokitansky-Kuster-Hauser syndrome)

Por Paulo Leite 15/04/2019

¨A síndrome Mayer-Rokitansky-Kuster-Hauser (MRKH) é caracterizada por aplasia congênita do útero e dois terços superiores da vagina em mulheres com cariótipo e características sexuais secundárias normais, apresentando incidência de 1:4.500 meninas. É a segunda causa mais frequente de amenorreia primária, após as disgenesias gonadais A MRKH pode ocorrer de forma isolada (tipo I) ou associada à malformação renal, vertebral e, em alguns casos, defeitos cardíacos ou auditivos, configurando a MRKH tipo II ou associação de MURCS, com incidência de 1:50.000 meninas. A ausência de dois terços proximais da vagina e ausência ou hipoplasia uterina ocorre em 96% dos casos, agenesia unilateral ou ectopia de um ou ambos os rins (88% dos casos); hidronefrose e rim em ferradura também podem ser encontrados. Já as anomalias de esqueleto, como defeito vertebral, envolvendo segmento cervical e/ou torácico, especialmente entre C5-T1, ocorrem em 80% dos casos, assim como assimetria, fusão de vértebras ou vértebra em cunha, escoliose e anomalia de Klippel-Feil (fusão de vértebras cervicais). A constituição cromossômica é 46,XX, embora tenham sido descritos casos de disgenesia gonadal XY ou monossomia X com os defeitos congênitos anteriormente descritos. A etiologia permanece desconhecida¨

■ Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: a case report and review of the literature

Roberta Villa, Jacopo Azzollini, Bernard Peissel, Siranoush Manoukian

Gynecol Oncol Rep. 2019 May; 28: 68–70

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431729/

■ A case of Mayer-Rokitansky-Küster-Hauser syndrome in a low-resource tertiary hospital in Douala, Cameroon

Thomas Obinchemti Egbe, Fidelia Mbi Kobenge, Metogo Mbengono Junette Arlette et al

SAGE Open Med Case Rep. 2019; 7: 2050313X19830817

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378465/

■ Diagnosis and management of ovarian tumor in Mayer-Rokitansky-Küster-Hauser syndrome

Yali Miao, Jirui Wen, Liwei Huang, Jiang Wu, Zhiwei Zhao

Biomed Res Int. 2018; 2018: 2369430

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867664/

■ Genetic analysis of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) through ascertainment of a large cohort of families

Lacey S. Williams, Durkadin Demir Eksi, Yiping Shen et al

Fertil Steril. 2017 Jul; 108(1): 145–151.e2

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770980/

■ Mayer-Rokitansky-Küster-Hauser syndrome associated with rectovestibular fistula

Charu Tiwari, Hemanshi Shah, Mukta Waghmare, Kiran Khedkar

Turk J Obstet Gynecol. 2017 Mar; 14(1): 70–73

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558322/

■ Sexual life of women with Mayer-Rokitansky-Küster-Hauser syndrome after laparoscopic Vecchietti vaginoplasty

Zlatko Pastor, Jiří Froněk, Marta Nováčková, Roman Chmel

Sex Med. 2017 Jun; 5(2): e106–e113

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440630/

■ Two sisters with Mayer-Rokitansky-Küster-Hauser syndrome and serous adenocarcinoma of the ovary

Sarah P. Huepenbecker, Laura Divine, Christina S. Chu, David G. Mutch

Gynecol Oncol Rep. 2017 Nov; 22: 13–15

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596329/

■ Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome

Keiko Watanabe, Yusuke Kobayashi, Kouji Banno et al

Biomed Rep. 2017 Aug; 7(2): 123–127

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526143/

■ Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS): a systematic literature review

Anke Wagner, Sara Yvonne Brucker, Esther Ueding et al

Orphanet J Rare Dis. 2016; 11: 15

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112722/

■ An unusual cause of urinary incontinence: urethral coitus in a case of Mayer-Rokitansky-Küster-Hauser syndrome

Farzaneh Sharifiaghdas, Azar Daneshpajooh, Samira Sohbati, Mahboubeh Mirzaei

Investig Clin Urol. 2016 Sep; 57(5): 367–371

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017564/

■ Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

Alpana Meena, Mradul Kumar Daga, Rashmi Dixit

BMJ Case Rep. 2016; 2016: bcr2015212634.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885519/

■ Vertebral defect., anal atresia, cardiac defect., tracheoesophageal fistula/esophageal atresia, renal defect., a limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature

Thomas Bjørsum-Meyer, Morten Herlin, Niels Qvist, Michael B. Petersen

J Med Case Rep. 2016; 10: 374.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5178070/

■ Mayer-Rokitansky-Kuster-Hauser syndrome: a review

L Londra, F S Chuong, L Kolp

Int J Women Health 2015, vol 7: 965-870

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636170/

■ Rim na síndrome de Mayer-Rokitansky-Kuster-Hauser

G L Breda, H G Ascenço, M Carvalho

Revista Médica da UFPR 2014, vol 1 (1)

https://revistas.ufpr.br/revmedicaufpr/article/view/40685/pdf_40685

■ Síndrome de Mayer-Rokitansky-Kuster-Hauser: uma revisão da literatura

D F Rezende, A V Rezende Filho, G N Oliveira et al

Revista Medicina e Saúde de Brasília 2013, vol 2 (2)

https://portalrevistas.ucb.br/index.php/rmsbr/article/view/4089/2672

■ Large leiomyoma in a woman with Mayer-Kokitansky-Kuster-Hauser syndrome

Kishan S Rawat, TBS Buxi, Anurag Yadav, Samarjit S ghuman, Shashi Dhawan

J Radiol Case Rep. 2013 Mar; 7(3): 39–46.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3661426/

■ Mayer-Rokitansky-Kuster-Hauser syndrome: embryology, genetics, and clinical and surgical treatment

Alfonsa Pizzo, Antonio Simone Laganà, Emanuele Sturlese et al

ISRN Obstet Gynecol. 2013; 2013: 628717

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575620/

■ Mayer-Rokitansky-Kuster-Hauser syndrome: diagnosis with MR imaging

M A Hall-Craggs, C E Williams, S H Pattison et al

Radiology 2013

https://pubs.rsna.org/doi/full/10.1148/radiol.13130211

■ Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS).

Borges, Mariana de Almeida Pinto et al.

Rev. Bras. Ginecol. Obstet., Mar 2012, vol.34, no.3, p.133-138

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032012000300008&lng=en&nrm=iso

■ Síndrome de Mayer-Rokitansky-Kuster-Hauser: relato de caso e revisão da literatura

Gutsche, Rodrigo Manfroi et al.

Radiol Bras, Jun 2011, vol.44, no.3, p.192-194

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842011000300014&lng=en&nrm=iso

■ Presurgical management of dysmenorrhea and endomtriosis in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome

J E Elliot, H Abduliabar, M Morris

Fertility and Sterity 2011, vol 96 (2)

https://www.fertstert.org/article/S0015-0282(11)00925-3/fulltext

■ Neovaginoplastia com membrana amniótica na síndrome de Mayer-Rokitansky-Küster-Hauser

Carvalho, Bruno Ramalho de et al.

Rev. Bras. Ginecol. Obstet., Dez 2007, vol.29, no.12, p.619-624

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032007001200004&lng=en&nrm=iso

■ Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Consultório: Rua Padre Rolim 815/sala 815

Tel: 33245518 (Consulta Particular/Unimed)

– Centro Médico Unimed BH/Contagem/Pedro I

Belo Horizonte/MG/Brasil

CRMMG: 7026

Email: pfleite1873@gmail.com

Síndrome de McCune-Albright Online (McCune-Albrigth Syndrome)

Por Paulo Leite 15/04/2019

¨A síndrome de McCune Albright é uma doença rara, clinicamente definida pela combinação de displasia fibrosa poliostótica – caracterizada por múltiplas lesões císticas nos ossos, manchas café-com-leite e endocrinopatias com hiperfunção, como puberdade precoce, hipertireoidismo, acromegalia e outras. A fisiopatologia biomolecular baseia-se em uma mutação ativadora do gene para a subunidade alfa da proteína de membrana Gs, que estimula a produção intracelular de AMPc, conferindo secreção autônoma à glândula em particular. A glândula tireóide é freqüentemente envolvida nesta doença. O hipertireoidismo pode causar puberdade precoce. Esta síndrome é tratada com testolactona, um inibidor da aromatase. Os tumores adrenais produtores de esteroides são raramente encontrados são tratados cirurgicamente.¨

■ Severe neonatal cholestasis as an early presentation of McCune-Albright syndrome

Nicole Coles, Ian Comeau, Tatiana Munoz et al

J Clin Res Pediatr Endocrinol. 2019 Mar; 11(1): 100–103.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398189/

■ Polyostotit fibrous dysplasia with and without McCune-Albright syndrome – clinical features in a Nordic pediatric cohort

Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir et al

Front Endocrinol (Lausanne) 2018; 9: 96

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863549/

■ Peculiarities of precocious puberty in boys and girls with McCune-Albrigh syndrome

Domenico Corica, Tommaso Aversa, Giorgia Pepe et al

Front Endocrinol (Lausanne) 2018; 9: 337

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023984/

■ Secondary aneurysmal bone cyst in McCune-Albright syndrom

S Tournis, A Balanika, P D Megaloikonomos, A F Mavrogenis

Clin Cases Miner Bone Metab. 2017 Sep-Dec;14(3):332-335

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762225/

■ Gigantism in a McCune-Albright syndrome with calcified GH-releasing pituitary adenoma: case report and literature review

Miguel Vega-Arroyo, Martha Lilia Tena-Suck, Celia Teresa de Jesús Álvarez-Gamiño et al

Int J Surg Case Rep. 2018; 53: 61–65

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215971/

■ McCune-Albright syndrome associated bone marrow failure and extramedullary haematopoisis secondary to fibrous

A J Mahdi, P Connor, I Thakur

British Journal of Haematology 2017, 178,179

https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.14690

■ Fibrous dysplasia/McCune-Albrigh syndrome: clinical and translational perspectives

Cemre Robinson, Michael T Collins, Alison M Boyce

Curr Osteoporos Rep. 2016 Oct; 14(5): 178–186

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035212/

■ McCune-Albright syndrome with craniofacial dysplasia: clinical review and surgical management

T A B Blsuzarri, J F M Araujo, C A M Melro et al

Surg Neurol Int 2016, vol 7 (Suppl 6): S165-S169

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804399/

■ Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics

Paraskevi Salpea, Constantine A. Stratakis

Mol Cell Endocrinol. 2014 Apr 5; 386(0): 85–91

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943598/

■ Oral pigmentation in McCune-Albright syndrome

Dominique C. Pichard, Alison M. Boyce, Michael T. Collins, Edward W. Cowen

JAMA Dermatol. 2014 Jul; 150(7): 760–76

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4933654/

■ Acromegaly and McCune-Albright syndrome

Sylvie Salenave, Alison M. Boyce, Michael T. Collins, Philippe Chanson

J Clin Endocrinol Metab. 2014 Jun; 99(6): 1955–1969

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037730/

■ Dental perspectives in fibrous dysplasia and McCune-Albright syndrome

Sunday O. Akintoye, Alison M. Boyce, Michael T. Collins

Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Sep; 116(3):

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851571/

■ Sinonasal disease in polyostotic fibrous dysplasia and McCune Albrigh syndrome

Timothy R. DeKlotz, Hung Jeffrey Kim, Marilyn Kelly, Michael T. Collins

Laryngoscope. 2013 Apr; 123(4): 823–828

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609909/

■ Palmidronic acid and cabergoline as effective long-term therapy in a 12-year-old girl with extended facial polyostotic fibrous dysplasia, prolactinona and acromegaly in McCune-Albright syndrome: a case report

Carl Friedrich Classen, Monika Mix, Ulrike Kyank,et al

J Med Case Reports. 2012; 6: 32.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277484/

■ Primary bimorphic adrenocortical disease: cause of hypercolrtisolism in McCune-Albright syndrome

Aidan Carney, William F. Young, Jr, Constantine A. Stratakis

Am J Surg Pathol. 2011 Sep; 35(9): 1311–1326.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140081/

■ Oral alendronate treatment for severe polyostotic fibrous dysplasia due to McCune-Albright syndrome in a child: a case report

Ana Luiza Andrade Aragão, Ivani Novato Silva

Int J Pediatr Endocrinol. 2010; 2010: 432060

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952807/

■ McCune-albright syndrome and acromegaly: hormonal control with use of cabergoline and long-acting somatostatin – case report.

Almeida, João Paulo C. et al.

Arq Bras Endocrinol Metab, Feb 2009, vol.53, no.1, p.102-106

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302009000100015&lng=en&nrm=iso&tlng=en

■ Hipertireoidismo relacionado à síndrome de McCune Albright: relato de dois casos e revisão da literatura

Sallum, Ana Carolina R. et al.

Arq Bras Endocrinol Metab, Abr 2008, vol.52, no.3, p.556-561

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000300017&lng=en&nrm=iso

■ Clinical, microscopic and imaging findings associated to Mccune-Albright syndrome: report of two cases

Xavier, Samuel Porfírio et al.

Braz. Dent. J., 2008, vol.19, no.2, p.165-17

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-64402008000200014&lng=en&nrm=iso&tlng=en

■ Envolvimento orbitário difuso por displasia fibrosa na síndrome de McCune Albright: relato de caso

Costanzi, Márcio Alberto and Cruz, Antonio Augusto Velasco e

Arq. Bras. Oftalmol., Dez 2007, vol.70, no.6, p.1021-1023

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492007000600026&lng=en&nrm=iso

■ A case of McCune-Albright syndrome with associated multiple endocrinopathies

S H Sung, H D Yoon, H S Shon et al

Korean J Inter Med 2007, vol 22 (1)

http://www.kjim.org/journal/view.php?number=15960

■ Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright.

Román R, Rossana et al.

Rev. méd. Chile, Dic 2001, vol.129, no.12, p.1365-137

https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872001001200001&lng=es&nrm=iso