Risks and benefits of estrogen therapy for a male-to-female transsexual with a prothrombin gene mutation

Endocr Pract. 2013 Nov-Dec;19(6):e150-3. doi: 10.4158/EP13103.CR.

Abstract

Objective: We present the case of a male-to-female transsexual person in her 20s requesting hormone therapy in the setting of a history of a deep venous thrombosis and pulmonary embolus and carrying the prothrombin G20210A gene mutation.

Methods: We interviewed the patient and reviewed her medical records. We carefully weighed the risks and benefits of hormone therapy and took into account two important ethical principles: beneficence (to act in the patient's best interest) and nonmaleficence (to avoid harm).

Results: Our patient presented to an outside facility with weight loss, generalized weakness, right lower extremity swelling, and chest pain. She was diagnosed with a pulmonary embolus and extensive deep venous thrombus by computed tomography (CT) scan and Doppler ultrasound, respectively. She was found to carry the prothrombin G20210A gene mutation. She was treated with anticoagulation therapy for 12 months, which was restarted prior to beginning therapy with transdermal estrogen.

Conclusion: While the exact risk of recurrent deep venous thrombosis and pulmonary embolus in our patient is unknown, we recommended that hormone therapy should only be given in conjunction with anticoagulation. We speculate that this strategy would allow the patient to experience the benefits to her overall well-being with hormone therapy while reducing the risks of venous thrombosis to acceptable levels. Prospective long-term follow-up of this patient is needed to verify the benefits and risk of the intervention chosen.

Publication types

  • Case Reports

MeSH terms

  • Administration, Cutaneous
  • Anticoagulants / therapeutic use
  • Estrogens / administration & dosage
  • Estrogens / adverse effects
  • Estrogens / therapeutic use*
  • Female
  • Humans
  • Mutation / genetics*
  • Mutation / physiology*
  • Prothrombin / genetics*
  • Risk Assessment
  • Thrombosis / etiology
  • Tomography, X-Ray Computed
  • Transgender Persons*
  • Young Adult

Substances

  • Anticoagulants
  • Estrogens
  • Prothrombin