Preview

Problems of Endocrinology

Advanced search

The disturbed gonadal differentiation: dysgenesis and ovotesticular disorder of sex formation

https://doi.org/10.14341/probl201561131-35

Abstract

The objective of the present study was differential diagnostics between ovotestis and gonadal dysgenesis, the choice of the gender and the surgical strategy for the treatment of abnormal sexual glands. Diagnostics of the disturbances of gonadal differentiation (DGD) requires morphological verification. The ovotesticular gonad is characterized by the presence of a mature ovarian tissue and a dysgenetic testicular component. The authors describe the surgical separation of the ovotestis with preservation of the segments represented by the mature ovarian tissue. The presence of immature ovarian elements in the testicular gonad is one of the signs of its dysgenesis. Such cases need to be treated by the surgical removal of dysgenetic gonads.

About the Authors

D A Morozov
Research Centre of Children’s Health, Moscow; I.M. Sechenov First Moscow State Medical University, Moscow
MD, PhD, Professor


N Yu Raygorodskaya
V.I. Razumovsky Saratov State Medical University, Saratov
MD, PhD


N V Bolotova
V.I. Razumovsky Saratov State Medical University, Saratov
MD, PhD, Professor


E S Pimenova
Research Centre of Children’s Health, Moscow; I.M. Sechenov First Moscow State Medical University, Moscow
MD, PhD


G N Maslyakova
V.I. Razumovsky Saratov State Medical University, Saratov
MD, PhD, Professor


E N Tsmokalyuk
V.I. Razumovsky Saratov State Medical University, Saratov
MD, PhD


References

1. Krob G, Braun A, Kuhnle U. True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology. Eur. J. Pediatr. 1994;153(1):2-10. doi: 10.1007/bf02000779.

2. Ludbrook LM, Bernard P, Bagheri-Fam S, et al. Excess DAX1 Leads to XY Ovotesticular Disorder of Sex Development (DSD) in Mice by Inhibiting Steroidogenic Factor-1 (SF1) Activation of the Testis Enhancer ofSRY-box-9(Sox9). Endocrinology. 2012;153(4):1948-1958. doi: 10.1210/en.2011-1428.

3. Ledig S, Hiort O, Wunsch L, Wieacker P. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. European Journal of Endocrinology. 2012;167(1):119-124. doi: 10.1530/eje-12-0136.

4. Nihoul-Fékété C, Thibaud E, Lortat-Jacob S, Josso N. Long-Term Surgical Results and Patient Satisfaction With Male Pseudohermaphroditism or True Hermaphroditism: A Cohort of 63 Patients. The Journal of Urology. 2006;175(5):1878-1884. doi: 10.1016/s0022-5347(05)00934-1.

5. Verkauskas G, Jaubert F, Lortat-Jacob S, et al. The Long-Term Followup of 33 Cases of True Hermaphroditism: A 40-Year Experience With Conservative Gonadal Surgery. The Journal of Urology. 2007;177(2):726-731. doi: 10.1016/j.juro.2006.10.003.

6. Морозов Д.А., Райгородская Н.Ю., Болотова Н.В., и др. Хирургическое лечение детей с патологией пола в соответствии с международным консенсусом. // Российский вестник детской хирургии анестезиологии и реаниматологии. - 2010. - №1 - С. 66-73.

7. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus Statement on Management of Intersex Disorders. Pediatrics. 2006;118(2):e488-e500. doi: 10.1542/peds.2006-0738.

8. Malavaud B, Mazerolles C, Bieth E, et al. Pure Seminoma in a Male Phenotype 46,Xx True Hermaphrodite. The Journal of Urology. 2000;164(1):125-126. doi: 10.1016/s0022-5347(05)67467-8.

9. Letterie GS, Page DC. Dysgerminoma and Gonadal Dysgenesis in a 46,XX Female with No Evidence of Y Chromosomal DNA. Gynecol. Oncol. 1995;57(3):423-425. doi: 10.1006/gyno.1995.1166.

10. Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Amer. J. Hum. Genet. 1995;57(6):1400-1407.

11. Wilhelm D, Washburn LL, Truong V, et al. Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice. Mech. Dev. 2009;126(5-6):324-336. doi: 10.1016/j.mod.2009.02.006.

12. Matsui F, Shimada K, Matsumoto F, et al. Long-term outcome of ovotesticular disorder of sex development: A single center experience. Int. J. Urol. 2011;18(3):231-236. doi: 10.1111/j.1442-2042.2010.02700.x.

13. Hisamatsu E, Nakagawa Y, Sugita Y. Two Cases of Late-Diagnosed Ovotesticular Disorder of Sex Development. APSP Journal of Case Reports. 2013;4(3):40-40.

14. Damiani D, Fellous M, McElreavey K, et al. True hermaphroditism: clinical aspects and molecular studies in 16 cases. European Journal of Endocrinology. 1997;136(2):201-204. doi: 10.1530/eje.0.1360201.

15. Raygorodskaya NY, Chernykh VB, Morozov DA, et al. A 3-year-old boy with ovotestes: gender reassignment and surgical management. J. Pediatr. Endocrinol. Metab. 2011;24(7-8). doi: 10.1515/jpem.2011.244.

16. Ozsu E, Mutlu GY, Cizmecioglu FM, et al. Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype. J. Pediatr. Endocrinol. Metab. 2013;26(7-8). doi: 10.1515/jpem-2012-0386.

17. Irkilata HC, Basal S, Taslipinar A, et al. Ovotesticular disorder of sex development with a prostatic gland and review of literature. Andrologia. 2009;41(6):387-391. doi: 10.1111/j.1439-0272.2009.00945.x.

18. Райгородская Н.Ю., Морозов Д.А., Болотова Н.В., и др. Врожденные нарушения дифференцировки гонад: клинико-морфологические варианты и оперативное лечение. // Урология. - 2012. №5 - С. 86-91.

19. Verkauskas G, Macianskyte D, Janciauskas D, et al. [Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. Medicina (Kaunas). 2009;45(5):357-364.


Review

For citations:


Morozov D.A., Raygorodskaya N.Yu., Bolotova N.V., Pimenova E.S., Maslyakova G.N., Tsmokalyuk E.N. The disturbed gonadal differentiation: dysgenesis and ovotesticular disorder of sex formation. Problems of Endocrinology. 2015;61(1):31-35. (In Russ.) https://doi.org/10.14341/probl201561131-35

Views: 559


ISSN 0375-9660 (Print)
ISSN 2308-1430 (Online)