Ovotesticular disorder of sexual development with rare karyotype
Keywords:
Ovotestis, Primodial Follicles, Mosaic Karyotype, Mixed Gonadal Dysgenesis, Germ Cell TumourAbstract
Ovotesticular disorder of sexual development (OT-DSD) is a rare disorder of sexual differentiation. It is associated with variable genotype of which the most common karyotype is 46,XX. A 2 year-old boy presented with severe penoscrotal hypospadias and unilateral right side cryptorchidism. The right gonad was atrophic , present in the right inguinal region and showed presence of ovarian tissue with mature ovarian follicles and testicular tissue with distinct seminiferous tubules in the same gonad (ovotestis) on histopathology and a 45,XO/46,XY karyotype.
References
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2. Hughes IA, Houk C, Ahmed SF, Lee PA; Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol .2006;2:148 – 62.
3. Bhansali A, Mahadevan S, Singh R, Rao KL et al. True hermaphroditism: clinical profile and management of six patients from North India. J Obstet Gynaecol . 2006;26:348–50.
4. Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA,et al. Tumor risk in disorders of sex development. Sex Dev. 2010;4:259–69.
5. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr .1994;153:2– 10.
6. K.-R. Kim et al.Hermaphroditism and Gonadal Dysgenesis.Mod Pathol. 2002;15:1013-9.
7. Damiani D, Fellous M, McElreavey K, Barbaux S et al. True hermaphroditism: clinical aspects and molecular studies in 16 cases. Eur J Endocrinol. 1997;136(2):201-4.
8. Moussaif NE, Haddad NE, Iraqi N, Gaouzi A. 45,X/46,XY mosaicisme: report of five cases and clinical review. Annales d'Endocrinologie. 2011 ;72: 239–243.
9. Ocal M. Berberoglu Z. Siklar et al. The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)†classification based on new Chicago consensus cover all sex chromosome DSD? Eur J Pediatric .2012;171:1497–1502.
10. Wettasinghe K, Sirisena N, Andraweera P, Jayasekara R et al. A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development. Clin Pediatr Endocrinol. 2012 ; 21(4): 69–73.
11. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child .2006;91: 554–63.
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Published
08-05-2016
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Singh R, Ahluwalia C, Mandal AK. Ovotesticular disorder of sexual development with rare karyotype. Ann of Pathol and Lab Med [Internet]. 2016 May 8 [cited 2024 Nov. 19];3(2):C68-71. Available from: https://pacificejournals.com/journal/index.php/apalm/article/view/APALM485
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Copyright (c) 2016 Ritika Singh, Charanjeet Ahluwalia, A K Mandal
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