Endometriosis
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Orchidectomy in Androgen Insensitivity Syndrome

Orchidectomy in Androgen Insensitivity Syndrome

Table of Contents

Video Description

This video will discuss the clinical presentation of androgen insensitivity syndrome highlighting the different options of gonadal management in these cases which include gonadectomy followed by hormone replacement therapy, surveillance and gonadal transposition which facilitate monitoring. It will also demonstrate the principles of laparoscopic bilateral orchidectomy in these cases with a video demonstrating the steps.

Presented By

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Dr. Noora Alqattan
Dr Anna Kobylianskii
Dr. Alexandra Milman
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Dr. Yulia Wilk Goldsher
Dr. Lisa Allen
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Affiliations

Mount Sinai & Woman’s College Hospital

University of Toronto, Sickkids

University of Toronto

Watch on YouTube

Click here to watch this video on YouTube.

What is Orchidectomy in Androgen Insensitivity Syndrome?

Orchidectomy in Androgen Insensitivity Syndrome (AIS) is the removal of undescended testes in individuals whose bodies are resistant to androgens, leading to a female or partially female physical appearance despite having XY chromosomes.

  • Purpose: Primarily reduces the risk of testicular cancer associated with undescended testes in AIS.
  • Timing: Often delayed until after puberty in complete AIS to allow natural estrogen production for development.
  • Hormone Replacement: Post-surgery, most patients need estrogen therapy to maintain bone density and secondary sexual characteristics.
  • Considerations: Involves discussions around fertility, hormone management, and potential psychological impacts.

Orchidectomy is a common step in managing AIS, with careful planning needed to balance risks and long-term health needs.

What are the Risks of Orchidectomy in Androgen Insensitivity Syndrome? 

The risks of orchidectomy (surgical removal of testes) in individuals with Androgen Insensitivity Syndrome (AIS) include:

  • Hormonal Imbalance: Removal of the testes leads to a sudden drop in testosterone, which can cause a deficiency in estrogen, leading to menopausal-like symptoms such as hot flashes, mood changes, and decreased bone density.

  • Bone Health Risks: Estrogen deficiency after orchidectomy increases the risk of osteoporosis and bone fractures, as estrogen plays a crucial role in maintaining bone health.

  • Infertility: Orchidectomy eliminates natural testosterone and sperm production, making biological parenthood impossible without prior fertility preservation, which is often challenging in AIS.

  • Psychological Impact: Surgical removal of gonads can impact emotional well-being, especially if the patient feels uncertain about the procedure or its implications on gender identity and body image.

  • Anesthetic and Surgical Risks: As with any surgery, risks include infection, bleeding, and complications from anesthesia, though these are generally low with experienced surgical teams.

  • Increased Risk of Long-term Hormone Replacement: Patients may require lifelong hormone replacement therapy to maintain secondary sexual characteristics, bone density, and overall health, requiring regular follow-up and adjustments.

  • Impact on Libido and Sexual Function: Some patients may experience changes in libido, energy levels, or sexual function post-surgery due to altered hormone levels.

Orchidectomy is often recommended to reduce the risk of malignancy in undescended testes, which can be higher in AIS, but the decision should involve thorough counseling on potential risks and lifelong hormone management.

Video Transcript: Orchidectomy in Androgen Insensitivity Syndrome

This video will discuss orchidectomy in the management of individuals with complete androgen insensitivity syndrome. We will discuss the clinical presentation and management of complete AIS, review a case presentation of an individual who chose orchidectomy, and demonstrate the principles of laparoscopic bilateral orchidectomy in complete AIS.

AIS is an X-linked genetic disorder and the most common XY disorder of sex development with an incidence of one in 13,000 to 50,000. The main aetiology is a mutation in the androgen receptor gene leading to resistance to androgens. There are three possible phenotypes, complete, partial, or mild AIS. In this video we will focus on complete AIS.

As a reminder, in normal male foetal sex differentiation, the androgen receptor is necessary for both Wolffian duct differentiation into the epididymis, vas deferens, and seminal vesicles and for dihydrotestosterone to induce virilisation of the external genitalia. Anti-Müllerian hormone secreted by Sertoli cells bind to the anti-Müllerian hormone receptor, leading to Müllerian duct regression.

Individuals with CAIS have a karyotype of XY. The bipotential gonads differentiate into testes, which produce both androgens and MIS. However, due to the defect in the androgen receptor, there is no androgen effect. They may present antenatally or at birth with a discrepancy between their XY karyotype and their female genitalia, at puberty with primary amenorrhoea, or any time with palpable inguinal or labial testes.

Gonad management options include gonadectomy and subsequent hormone replacement therapy, surveillance, or gonadal transposition to facilitate monitoring.

Gonadectomy has been performed due to the risk of malignancy. While it increases with age, recent literature suggests a lower risk compared to previous, with a pre-malignancy rate of 6% at surgery and a malignancy rate of 1% to 2%.

Surveillance is done by annual imaging from puberty, either by ultrasound or MRI, depending on the location of the gonads.

Gonadal transposition involves surgically moving and fixing the intra-abdominal gonads either to the abdominal wall or in the inguinal area to allow for palpation and better visualisation by imaging.

Our case involves a 35-year-old diagnosed with CAIS by genetic information at the age of 29 when she was trying to conceive. Her older sister was also diagnosed with CAIS. Her left testes was palpable. The right was not. Options were discussed with the patient. As the patient was concerned regarding the malignancy risk, she opted to have gonadectomy.

Gonadectomy can be performed either through an inguinal incision or laparoscopically. The steps of the procedure are anatomic survey followed by mobilisation of the testes from the inguinal canal, division of the gubernaculum, ligation of the gonadal vessels, and specimen removal, followed by hernia repair if required.

 The first step is anatomic survey. As you can see, the pelvis has no internal Müllerian structures. The right testes is visualised attached to the internal inguinal ring. The gonads are supplied by the gonadal vessels highlighted in red. On the left side of the pelvis, the left testes, gonadal vessels, and the external iliac artery are highlighted.

The left gonad is dissected through a plane that was made in the posterior peritoneum around the gonads, away from the other retroperitoneal structures. It is important to determine the location and the course of retroperitoneal structures, such as the ureters and the iliac vessels, to avoid iatrogenic injury.

The next step is to ligate the gubernaculum in order to separate the testes from the internal inguinal ring. The gubernaculum is fulcrated and divided using a vessel-sealing device as demonstrated in the video. The gonadal vessels were then identified, sealed, and divided, taking care to leave a pedicle.

The same steps were followed and repeated for the right testes. We started by mobilising the testes, followed by ligation of the gubernaculum, with the last step being ligation of the gonadal vessels.

The specimens were then removed from the abdomen. The patient’s post-operative course was unremarkable. She was treated post-operatively with oestradiol for hormone replacement therapy.

This video has outlined the steps of orchidectomy. It is important for care providers of individuals with CAIS to participate in shared decision-making regarding the management of the testes. Recent literature supports a lower-than-previous risk of testicular malignancy. However, there persists an elevated risk compared to CAIS-gendered [?] males with descended testes. If orchidectomy is chosen, a laparoscopic approach is feasible, even in the presence of inguinal testes.