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Review
. 2019 Dec;32(6):605-611.
doi: 10.1016/j.jpag.2019.06.005. Epub 2019 Jun 21.

A Management Protocol for Gonad Preservation in Patients with Androgen Insensitivity Syndrome

Erica M Weidler  1 , Maria E Linnaus  2 , Arlene B Baratz  3 , Luis F Goncalves  4 , Smita Bailey  4 , S Janett Hernandez  5 , Veronica Gomez-Lobo  6 , Kathleen van Leeuwen  5
Affiliations
Review

A Management Protocol for Gonad Preservation in Patients with Androgen Insensitivity Syndrome

Erica M Weidler et al. J Pediatr Adolesc Gynecol. 2019 Dec.

Abstract

Historically, individuals with androgen insensitivity syndrome (AIS) were managed with removal of gonadal tissue at various ages to avert the risk of gonadal malignancy. Recently, clinical practice changed, with gonadectomy being postponed until late adolescence. Adolescents and adults with complete AIS have questioned this approach. Additionally, testicular germ cell tumors are increasingly believed to be quite rare with rates as low as 0% in molecularly confirmed individuals with AIS. Gonadectomy deprives patients of the benefits of their endogenous hormones and potential fertility. Furthermore, human rights organizations advocate for deferring irreversible surgery in conditions known as differences of sex development, which includes AIS, to allow patient autonomy in decision-making. Recent literature supports an approach that uses risk stratification to manage gonads in AIS. Herein we review what is known about malignancy risk in the different subtypes of AIS and propose a management protocol for gonad retention.

Keywords: Androgen insensitivity syndrome; Gonadectomy; Gonads; Malignancy risk.

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Conflict of interest statement

Erica M. Weidler is a paid board member and Executive Director of Accord Alliance. The remaining authors indicate no conflicts of interest.

Figures

Fig. 1.
Fig. 1.
Gonad preservation treatment algorithm recommended for clinical process upon initial diagnosis and subsequent clinical follow-up of individuals diagnosed with androgen insensitivity syndrome (AIS). CAIS, complete androgen insensitivity syndrome; HRT, hormone replacement therapy; MAIS, mild androgen insensitivity syndrome; MRI, magnetic resonance imaging; PAIS, partial androgen insensitivity syndrome; PE, physical exam.
See this image and copyright information in PMC

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