Changes in adenomyosis following elagolix vs leuprolide treatment in a patient with pelvic pain and infertility: A case report.

Adenomyosis is a uterine form of endometriosis that poses unique challenges in the management of infertility. Severe pelvic pain and menorrhagia associated with these conditions are commonly managed with intramuscular injections of a gonadotropin-releasing hormone agonist (leuprolide acetate). Since receiving approval by the US Food and Drug Administration in 2018, a novel oral gonadotropin-releasing hormone antagonist, elagolix, has also been increasingly used to manage endometriosis-associated pain. However, the efficacy of elagolix in the treatment of adenomyosis and infertility remains uncertain. In this clinical case of an infertile patient with endometriosis and diminished ovarian reserve, treatment with elagolix effectively controlled her severe endometriosis-related pelvic pain but, surprisingly, failed to prevent concurrent progression of adenomyosis. Subsequently, elagolix was changed to treatment with leuprolide acetate, which led to improvement of adenomyosis in preparation for an embryo transfer during an in vitro fertilization cycle. Women's health providers should be aware that elagolix may not as effectively suppress adenomyosis as leuprolide acetate, particularly in infertility patients undergoing treatment with assisted reproductive technologies.

Creating Affirmative and Inclusive Practices When Providing Genetic and Genomic Diagnostic and Research Services to Gender-Expansive and Transgender Patients.

BACKGROUND: Gender expansive and transgender (GET) healthcare extends beyond gender-affirming therapies, reaching every medical specialty and subspecialty. As the number of GET patients seeking health services has increased, so has the need for standards of care regarding GET-affirmative practices throughout the healthcare system. As such, the number of publications surrounding GET-affirmative practices has steadily risen. However, even as such research has gained ground in other areas, one realm in which there has been a relative lag is genetics and genomics (GG). CONTENT: In this article, we track the GET patient and their laboratory sample from the clinic to the GG laboratory and back. Throughout the preanalytical, analytical, and postanalytical phases, we identify publications, recommendations, and guidelines relevant to the care of the GET community. We also identity knowledge gaps in each area and provide recommendations for affirmative and inclusive processes for addressing those gaps. SUMMARY: We have identified the practices involved in GG services that would benefit from GET-affirmative process improvement, reviewing relevant affirmative guidelines. Where guidelines could not be found, we identified those knowledge gaps and suggested potential solutions and future directions for implementing GET-affirmative practices.

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants.

Approximately 0.5-1.4% of natal males and 0.2-0.3% of natal females meet DSM-5 criteria for gender dysphoria, with many of these individuals self-describing as transgender men or women. Despite recent improvements both in social acceptance of transgender individuals as well as access to gender affirming therapy, progress in both areas has been hampered by poor understanding of the etiology of gender dysphoria. Prior studies have suggested a genetic contribution to gender dysphoria, but previously proposed candidate genes have not yet been verified in follow-up investigation. In this study, we expand on the topic of gender identity genomics by identifying rare variants in genes associated with sexually dimorphic brain development and exploring how they could contribute to gender dysphoria. To accomplish this, we performed whole exome sequencing on the genomic DNA of 13 transgender males and 17 transgender females. Whole exome sequencing revealed 120,582 genetic variants. After filtering, 441 variants in 421 genes remained for further consideration, including 21 nonsense, 28 frameshift, 13 splice-region, and 225 missense variants. Of these, 21 variants in 19 genes were found to have associations with previously described estrogen receptor activated pathways of sexually dimorphic brain development. These variants were confirmed by Sanger Sequencing. Our findings suggest a new avenue for investigation of genes involved in estrogen signaling pathways related to sexually dimorphic brain development and their relationship to gender dysphoria.