1. Home
  2. Vol 55, No 4 (2023)
  3. Hardigaloeh

A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report

Amanda Trixie Hardigaloeh, Tri Juli Edi Tarigan, Em Yunir, Kanadi Sumapradja, Feranindhya Agiananda, Yulia Ariani, Nanis S Marzuki, Irfan Wahyudi, Lisnawati Lisnawati

Abstract


A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.


Keywords


mixed gonadal dysgenesis; ambiguous genitalia

References


Lee PA, Houk CP, Ahmed SF, et al. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118(2):e488-500.

Winter William E, Hiers Paul, Greene Dina N. Disorders of sexual development. In: Winter William E., Holmquist Brett, Sokoll Lori J, Bertholf Roger L, eds. Handbook of diagnostic endocrinology 3rd edition. United Kingdom:AACE Press; 2021. p. 581-624.

McCann-Crosby B, Mansouri R, Dietrich JE, et al. State of the art review in gonadal dysgenesis:Challenges in diagnosis and management. Int J Pediatr Endocrinol. 2014;2014(1):4.

Rasouli Melody, McDaniel Katherine, Awadalla Michael, Chung Karine. Mosaic turner syndrome presenting with a 46,XY karyotype. Case Rep Obstet Gynecol. 2019;2019:379178.

Saikia UK, Sarma D, Das DV, et al. A case of mixed gonadal dysgenesis: A diagnostic challenge. J Hum Reproud Sci. 2019;12(2):169-72.

Davidoff Frank, Federman Daniel D. Mixed gonadal dysgenesis. Pediatrics. 1973;52(5):725-42.

Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosaicism:Analysis of 92 prenatally diagnosed cases. Am J Hum Genet. 1990;46(1):156-67.

Hatano Megumi, Fukuzawa Ryuji, Hasegawa Yukihiro. The mosaicism ratio of 45,X may explain the phenotype in a case of mixed gonadal dysgenesis. Sex Dev. 2018;12(4):175-9.

Alhajjaj Alya, Altarouti Sarraa A, Alkhabbaz Fatimah. Mosaic turner syndrome with 45,X/46, XY mosaicism and apparent absent uterus. Cureus. 2021;13(5):e14816.

Wu Q, Wang C, Shi H, Kong X, Ren S, Jiang M. The clinical manifestation and genetic evaluation in patients with 45,X/46,XY mosaicism. Sex Dev. 2017;11:64-9.

Zah W, Kalderon AE, Tucci JR. Mixed gonadal dysgenesis. Acta Endocrionol Suppl (copenh).1975;197:1-39.

Cools M, Pleskacova J, Stoop H, et al. Gonadal pathology and tumor risk in relation to clinical characteristic in patients with 45,X/46,XY mosaicism. J Clin Endocrinol Metab. 2011;96(7):E1171-80.


Full Text: PDF

Refbacks

  • There are currently no refbacks.