Androgen insensitivity syndrome: preventive gonadectomy, pros and cons
E. A. Starostina,
N. V. Frolkova,
S. M. Seidova,
E. G. Przhiyalkovskaya,
N. M. Platonova,
E. A. Troshina https://doi.org/10.14341/omet13024
Abstract
Androgen insensitivity syndrome is a genetic disorder characterized by complete or partial androgen insensitivity in individuals with a 46XY genotype. It is also the most common cause of disorders of sexual differentiation in patients with a 46XY karyotype. This condition is caused by a defect in the androgen receptor gene (AR), leading to abnormal development of male genitalia, impaired formation of male secondary sexual characteristics, and phenotypic features resembling the female sex.
One of the important aspects related to the management of androgen insensitivity syndrome is the necessity of preventive gonadectomy. However, the rationale for prophylactic removal of gonads remains a subject of debate. This article presents a clinical case of a 37-year-old woman with complete androgen insensitivity syndrome who, despite recommendations for gonadectomy based on suspicious MRI characteristics of the gonads, made the decision to decline surgical intervention, justifying her choice by the positive impact of gonadal hormonal activity on her external appearance and physical characteristics. This clinical case highlights the complexity of decision-making in the management of androgen insensitivity syndrome, where patient preferences and needs may play a significant role, despite potential risks and concerns surrounding the preservation of gonads.
About the Authors
E. A. Starostina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Evgenia A. Starostina - MD, PhD.
11 Dm.Ulyanova street, 117036 Moscow
Competing Interests:
Работа выполнена в соавторстве с членом редакционной коллегии журнала «Ожирение и метаболизм» Трошиной Е.А.
N. V. Frolkova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Nadezhda V. Frolkova – MD.
Moscow
Competing Interests:
Работа выполнена в соавторстве с членом редакционной коллегии журнала «Ожирение и метаболизм» Трошиной Е.А.
S. M. Seidova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Seidbike M. Seidova - MD.
Moscow
Competing Interests:
Работа выполнена в соавторстве с членом редакционной коллегии журнала «Ожирение и метаболизм» Трошиной Е.А.
E. G. Przhiyalkovskaya
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Elena G. Przhiyalkovskaya - MD, PhD.
Moscow
Competing Interests:
Работа выполнена в соавторстве с членом редакционной коллегии журнала «Ожирение и метаболизм» Трошиной Е.А.
N. M. Platonova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Nadezhda M. Platonova - MD, PhD.
Moscow
Competing Interests:
Работа выполнена в соавторстве с членом редакционной коллегии журнала «Ожирение и метаболизм» Трошиной Е.А.
E. A. Troshina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Ekaterina A. Troshina - MD, PhD, Professor.
Moscow
Competing Interests:
Работа выполнена в соавторстве с членом редакционной коллегии журнала «Ожирение и метаболизм» Трошиной Е.А.
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1. Figure 1. MRI of the pelvic organs. Arrows indicate the gonads (testes) in the inguinal canal. | |
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For citations:
Starostina E.A., Frolkova N.V., Seidova S.M., Przhiyalkovskaya E.G., Platonova N.M., Troshina E.A. Androgen insensitivity syndrome: preventive gonadectomy, pros and cons. Obesity and metabolism. 2024;21(1):85-91. (In Russ.) https://doi.org/10.14341/omet13024
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