Neurological aspects of testicular feminization syndrome
https://doi.org/10.66825/2949-4664-apps-4-1-50-56
Abstract
Testicular feminization syndrome (TFS) or androgen insensitivity syndrome (AIS) is a disorder of sexual development in which an individual with a 46 XY karyotype develops a female phenotype due to an androgen receptor defect. Currently, the genetic, endocrinological, and gynecological aspects of the pathology are welldocumented, while neurological disorders remain poorly understood. This review summarizes current data on the impact of androgen resistance on the central nervous system (CNS). Neurological manifestations in TFS are predominantly indirect and include: a high risk of anxiety-depressive and psychovegetative disorders associated with psychosocial stress; specific features of the cognitive profile (with a relative decline in visuospatial functions); impaired motor development and coordination; pain syndrome due to the increased likelihood of early osteoporosis. Understanding these aspects is important for organizing multidisciplinary (neurologist-endocrinologist-psychiatrist) patient management.
About the Authors
Zh. M. Tsotsonava
Astrakhan State Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Zhuzhuna M. Tsotsonava, MD, PhD, Associate Professor, Head of the Department of Neurology and Neurosurgery with a Course of Continuing Professional Education
121 Bakinskaya str., Astrakhan, 414000
Competing Interests:
The authors declare no conflict of interest.
K. K. Omarova
Astrakhan State Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Kistaman K. Omarova, Resident, Department of Neurology and Neurosurgery with a Course of Continuing Professional Education
121 Bakinskaya str., Astrakhan, 414000
Competing Interests:
The authors declare no conflict of interest.
A. S. Umbetalieva
Astrakhan State Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Asemgul S. Umbetalieva, Resident, Department of Neurology and Neurosurgery with a Course of Continuing Professional Education
121 Bakinskaya str., Astrakhan, 414000
Competing Interests:
The authors declare no conflict of interest.
References
1. Hughes IA & Deeb A. (2006). Androgen resistance. Best Practice & Research Clinical Endocrinology & Metabolism. 20 (4), 577–598. DOI: 10.1016/j. beem.2006.11.003 available online at http://www.sciencedirect.com.
2. Gottlieb B, Trifiro MA. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2017 May 11]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1429/.
3. McEwen BS. Steroid hormones and the brain: linking “nature” and “nurture”. Neurochem Res. 1988 Jul; 13 (7): 663–9. DOI: 10.1007/BF00973285. PMID: 3045686.
4. Handa RJ, Weiser MJ. Gonadal steroid hormones and the hypothalamo-pituitary-adrenal axis. Front Neuroendocrinol. 2014 Apr; 35 (2): 197–220. DOI: 10.1016/j.yfrne.2013.11.001. Epub 2013 Nov
5. PMID: 24246855; PMCID: PMC5802971.
6. Paus T, Toro R. Could Sex Differences in White Matter be Explained by g ratio? Front Neuroanat. 2009 Sep 4; 3: 14. DOI: 10.3389/neuro.05.014.2009. PMID: 19753325; PMCID: PMC2742663.
7. Josso N, Rey RA. What Does AMH Tell Us in Pediatric Disorders of Sex Development? Front Endocrinol (Lausanne). 2020 Sep 8; 11: 619. DOI: 10.3389/fendo.2020.00619. PMID: 33013698; PMCID: PMC7506080.
8. Hier DB, Crowley WF Jr. Spatial ability in androgendeficient men. N Engl J Med. May 20; 306 (20): 1202– 5. DOI: 10.1056/NEJM198205203062003. PMID: 7070432.
9. Imperato-McGinley J, Zhu YS. Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency. Mol Cell Endocrinol. 2002 Dec 30; 198 (1–2): 51–9. DOI: 10.1016/s0303-7207(02)00368-4. PMID: 12573814.
10. Soule SG, Conway G, Prelevic GM, Prentice M, Ginsburg J, Jacobs HS. Osteopenia as a feature of the androgen insensitivity syndrome. Clin Endocrinol (Oxf). 1995 Dec; 43 (6): 671–5. DOI: 10.1111/j.1365-2265.1995.tb00533.x. PMID: 8736267.
11. Schützmann K, Brinkmann L, Schacht M, RichterAppelt H. Psychological distress, self-harming behavior, and suicidal tendencies in adults with disorders of sex development. Arch Sex Behav. 2009 Feb; 38 (1): 16–33. DOI: 10.1007/s10508-007-9241-9. Epub 2007 Oct 18. PMID: 17943433.
12. Köhler B, Kleinemeier E, Lux A, Hiort O, Grüters A, Thyen U; DSD Network Working Group. Satisfaction with genital surgery and sexual life of adults with XY disorders of sex development: results from the German clinical evaluation study. J Clin Endocrinol Metab. 2012 Feb; 97 (2): 577–88. DOI: 10.1210/jc.2011-1441. Epub 2011 Nov 16. PMID: 22090272.
13. Starostina EA, Frolkova NV, Seidova SM, Przhiyalkovskaya EG, Platonova NM, Troshina EA. Testicular feminization syndrome: preventive gonadectomy, pros and cons. Obesity and metabolism. 2024; 21 (1): 85–91. DOI: https://DOI.org/10.14341/omet13024.
14. Bertelloni S. Gonadal Surgery in Complete Androgen Insensitivity Syndrome: A Debate. Sex Dev. 2017; 11 (4): 169–170. DOI: https://DOI.org/10.1159/000475907.
15. Cools M, Wolffenbuttel KP, Hersmus R, et al. Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling. Hum Reprod. 2017; 32 (12): 2561–2573. DOI: https://DOI.org/10.1093/humrep/dex300.
16. Döhnert U, Wünsch L, Hiort O. Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? Sex Dev. 2017; 11 (4): 171–174. DOI: https://DOI.org/10.1159/000478082.
17. Batista RL, Costa EMF, Rodrigues A de S, et al. Androgen insensitivity syndrome: a review. Arch Endocrinol Metab. 2018; 62 (2): 227–235. DOI: https://DOI.org/10.20945/2359-3997000000031.
18. Hughes IA, Houk C, Ahmed SF, Lee PA. LWPES 1/ ESPE 2 Consensus Group. Consensus statement on management of intersex disorders. Arch. Dis. Child. 2006. Vol. 91. P. 554–563.
Review
For citations:
Tsotsonava Zh.M., Omarova K.K., Umbetalieva A.S. Neurological aspects of testicular feminization syndrome. Archives of Pediatrics and Pediatric Surgery. 2026;4(1):50-56. (In Russ.) https://doi.org/10.66825/2949-4664-apps-4-1-50-56
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