Gônadas de indivíduos com distúrbio do desenvolvimento sexual ovotesticular: uma revisão sistemática
DOI:
https://doi.org/10.53843/bms.v8i11.528Palabras clave:
Gônadas, Transtornos Ovotesticulares do Desenvolvimento Sexual, Caracteres SexuaisResumen
INTRODUÇÃO: O distúrbio do desenvolvimento sexual ovotesticular (DDS ovotesticular) é uma condição no qual um indivíduo apresenta tecido testicular e tecido ovariano. A laparoscopia associada ao exame histológico confirma os componentes das gônadas, sendo fundamentais para a decisão final da atribuição de gênero e para descartar a presença de tumores gonadais. Sendo assim, este estudo objetiva analisar as variações de gônadas em indivíduos com DDS ovotesticular e suas implicações clínicas em humanos. METODOLOGIA: Trata-se de uma revisão sistemática de artigos indexados nas bases de dados SciELO, Pubmed e Latindex, no período de maio a junho de 2022. Foram incluídos artigos originais envolvendo as variações de gônadas apresentadas em humanos com DDS ovotesticular. Considerou-se para este estudo a análise histológica e a determinação da localização das gônadas. A coleta foi realizada por dois revisores independentes. RESULTADOS: Foram selecionados 34 artigos, caracterizados quanto à amostra e principais resultados em uma tabela. Os artigos foram analisados criticamente através de um guia de interpretação, usado para avaliar sua qualidade individual, estando os resultados descritos em outra tabela. DISCUSSÃO: A gônada mais comum foi o ovotestis (49,4%), seguido do ovário (31,1%) e testículos (19,5%). As mais frequentes combinações de gônadas observadas foram ovário e testículo (30,5%) e ovotestis bilaterais (25%). Tumores gonadais foram relatados em 6 amostras (7,2%): 3 seminomas (3,6%), 1 disgerminoma (1,2%), 1 gonadoblastoma (1,2%) e 1 coriocarcinoma (1,2%). A realização de exame citogenético evidenciou a maior prevalência do cariótipo 46,XX, encontrado em 50 indivíduos da amostra (60,24%). CONCLUSÃO: Ressalta-se a importância sobre o conhecimento das possíveis variações dessa estrutura, que podem impactar o processo de atribuição de gênero e demandar intervenções cirúrgicas.
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De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, Colaco M, Fox J. Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. Cureus. 2021 Oct 5;13(10):e18512. DOI: https://doi.org/10.7759/cureus.18512
Acién P, Acién M. Disorders of Sex Development: Classification, Review, and Impact on Fertility. J Clin Med. 2020 Nov 4;9(11):3555. DOI: https://doi.org/10.3390/jcm9113555
Temel SG, Gulten T, Yakut T, Saglam H, Kilic N, Bausch E, et al. Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus. Sex Dev. 2007;1(1):24-34. DOI: https://doi.org/10.1159/000096236
Mao Y, Chen S, Wang R, Wang X, Qin D, Tang Y. Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series. BMC Urol. 2017 Mar 28;17(1):21. DOI: https://doi.org/10.1186/s12894-017-0212-8
Wadhera S, Patidar N, Odiya S, Ghanghoria A, Mathur R, Kumar Gupta A. True hermaphrodism presenting as pelvic abscess. Urol J. 2008 Fall;5(4):275-6.
Greenhalgh T. Papers that summarise other papers (systematic reviews and meta-analyses). BMJ. 1997 Sep 13;315(7109):672-5. DOI: https://doi.org/10.1136/bmj.315.7109.672
MacDermid JC, Walton DM, Avery S, Blanchard A, Etruw E, McAlpine C, et al. Measurement properties of the neck disability index: a systematic review. J Orthop Sports Phys Ther. 2009 May;39(5):400-17. DOI: https://doi.org/10.2519/jospt.2009.2930
Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics. 1977 Mar;33(1):159-74. DOI: https://doi.org/10.2307/2529310
Amolo P, Laigong P, Omar A, Drop S. Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents. Int J Endocrinol. 2019 Dec 1;2019:2985347. DOI: https://doi.org/10.1155/2019/2985347
ANNAMUNTHODO H, ARNEAUD JD, COLE WR, PINKERTON JH. A case of true hermaphroditism. Br Med J. 1956 Oct 6;2(4996):792-4. DOI: https://doi.org/10.1136/bmj.2.4996.792
ARMSTRONG CN, GRAY JE, RACE RR, THOMPSON RB. A case of true hermaphroditism: a further report. Br Med J. 1957 Sep 14;2(5045):605-6. DOI: https://doi.org/10.1136/bmj.2.5045.605
Becker RE, Akhavan A. Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype. Urol Case Rep. 2016 Jan 8;5:13-6. DOI: https://doi.org/10.1016/j.eucr.2015.12.003
BROMWICH AF. True hermaphroditism. Br Med J. 1955 Feb 12;1(4910):395-7. DOI: https://doi.org/10.1136/bmj.1.4910.395
Ceylan K, Algun E, Gunes M, Gonulalan H. True hermaphroditism presenting as an inguinal hernia. Int Braz J Urol. 2007 Jan-Feb;33(1):72-3. DOI: https://doi.org/10.1590/S1677-55382007000100011
Chen CQ, Liu Z, Lu YS, Pan M, Huang H. True hermaphroditism with dysgerminoma: A case report. Medicine (Baltimore). 2020 May 29;99(22):e20472. DOI: https://doi.org/10.1097/MD.0000000000020472
Chouhan JD, Chu DI, Birs A, Pyle LC, Van Batavia JP, Linn RL, et al. Ovotestis in Adolescence: 2 Case Reports. Urology. 2017 Jul;105:171-174. DOI: https://doi.org/10.1016/j.urology.2017.04.009
Das S, Saikia UK, Saikia KK, Sarma D, Choudhury BK, Bhuyan AK, et al. "Spectrum of 46 XY Disorders of Sex Development": A Hospital-based Cross-sectional Study. Indian J Endocrinol Metab. 2020 Jul-Aug;24(4):360-365. DOI: https://doi.org/10.4103/ijem.IJEM_98_20
Eser M, Ayaz A. Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development. Balkan Med J. 2018 May 29;35(3):272-274. DOI: https://doi.org/10.4274/balkanmedj.2017.0378
FISCHER HW, LISCHER CE, BYARS LT. True hermaphroditism. Ann Surg. 1952 Nov;136(5):864-73. DOI: https://doi.org/10.1097/00000658-195211000-00010
French S, Rodriguez L, Schlesinger A, McCullough L, Dietrich J, Hicks J, et al. FSH Injections and Ultrasonography Determine Presence of Ovarian Components in the Evaluation of Ovotesticular Disorders of Sex Development. Int J Pediatr Endocrinol. 2009;2009:507964. DOI: https://doi.org/10.1186/1687-9856-2009-507964
Greeley SA, Littlejohn E, Husain AN, Waggoner D, Gundeti M, Rosenfield RL. The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development). Horm Res Paediatr. 2017;87(3):205-212. DOI: https://doi.org/10.1159/000455142
HENRY WL, JONES RF, CYPRESS GC, ANDERSON MB. True hermaphroditism. J Natl Med Assoc. 1957 Jul;49(4):212-8.
Jahagirdar R, Khadilkar V, Deshpande R, Lohiya N. Clinical, Etiological and Laboratory Profile of Children with Disorders of Sexual Development (DSD)-Experience from a Tertiary Pediatric Endocrine Unit in Western India. Indian J Endocrinol Metab. 2021 Jan-Feb;25(1):48-53. DOI: https://doi.org/10.4103/ijem.IJEM_520_20
Li Z, Liu J, Peng Y, Chen R, Ge P, Wang J. 46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report. Medicine (Baltimore). 2020 Oct 2;99(40):e22530. DOI: https://doi.org/10.1097/MD.0000000000022530
Malik V, Gupta D, Gill M, Salvi AL. Seminoma in a male phenotype 46XX true hermaphrodite. Asian J Surg. 2007 Jan;30(1):85-7. DOI: https://doi.org/10.1016/S1015-9584(09)60136-6
Mengen E, Kayhan G, Kocaay P, Uçaktürk SA. A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report. J Clin Res Pediatr Endocrinol. 2020 Sep 2;12(3):308-314. DOI: https://doi.org/10.4274/jcrpe.galenos.2019.2019.0101
Özdemir M, Kavak RP, Yalcinkaya I, Guresci K. Ovotesticular Disorder of Sex Development: An Unusual Presentation. J Clin Imaging Sci. 2019 Jul 12;9:34. DOI: https://doi.org/10.25259/JCIS_45_2019
Roberts LN, Khajavi A. TRUE HERMAPHRODITISM IN AN 80-YEAR-OLD PATIENT. Can Med Assoc J. 1964 Sep 19;91(12):663-5.
Sakatoku J, Hongo H, Ebisuta K, Kitayama T, Soma T. [TWO CASES OF TRUE HERMAPHRODITISM]. Hinyokika Kiyo. 1964 Jan;10:33-40.
Samantray SR, Mohapatra I. Ovotesticular Disorder With Seminoma. Cureus. 2020 Dec 17;12(12):e12130. DOI: https://doi.org/10.7759/cureus.12130
Scarpa MG, Grazia MD, Tornese G. 46,XY ovotesticular disorders of sex development: A therapeutic challenge. Pediatr Rep. 2017 Dec 11;9(4):7085. DOI: https://doi.org/10.4081/pr.2017.7085
Scarpa MG, Lesma A, Di Grazia M, Rigamonti W. Ovotesticular differences of sex development: male or female? Case series. Ital J Pediatr. 2019;45(1):66. Published 2019 May 30. doi:10.1186/s13052-019-0660-8 DOI: https://doi.org/10.1186/s13052-019-0660-8
Şimşek E, Binay Ç, Demiral M, Tokar B, Kabukçuoğlu S, Üstün M. Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development. J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):351-5. DOI: https://doi.org/10.4274/jcrpe.2705
Štichhauer R, Šafus A, Neumann D, Novák I, Skutilová V, Laco J. Ovotesticular Disorder of Sexual Development and Non-Palpable Testis. Acta Medica (Hradec Kralove). 2021;64(1):42-45. DOI: https://doi.org/10.14712/18059694.2021.7
Swartz JM, Ciarlo R, Guo MH, Abrha A, Weaver B, Diamond DA, Chan YM, Hirschhorn JN. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. Horm Res Paediatr. 2017;87(3):191-195. DOI: https://doi.org/10.1159/000452888
van Bever Y, Wolffenbuttel KP, Brüggenwirth HT, Blom E, de Klein A, Eussen BHJ, et al. Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity. Sex Dev. 2018;12(1-3):145-154. DOI: https://doi.org/10.1159/000479946
Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: a study of 194 cases. Endocr Connect. 2018 Feb;7(2):364-371. DOI: https://doi.org/10.1530/EC-18-0022
Wang D, Hu Y, He Y, Xie C, Yin R. Pure ovarian choriocarinoma mimicking ectopic pregnancy in true hermaphroditism. Acta Obstet Gynecol Scand. 2009;88(7):850-2. DOI: https://doi.org/10.1080/00016340902902883
van Niekerk WA, Retief AE. The gonads of human true hermaphrodites. Hum Genet. 1981;58(1):117-22. DOI: https://doi.org/10.1007/BF00284158
Matsui F, Shimada K, Matsumoto F, Itesako T, Nara K, Ida S, Nakayama M. Long-term outcome of ovotesticular disorder of sex development: a single center experience. Int J Urol. 2011 Mar;18(3):231-6. DOI: https://doi.org/10.1111/j.1442-2042.2010.02700.x
Ganie Y, Aldous C, Balakrishna Y, Wiersma R. The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience. Horm Res Paediatr. 2017;87(5):307-314. DOI: https://doi.org/10.1159/000466693
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