Training clinicians in culturally relevant care: a curriculum to improve knowledge and comfort with the transgender and gender diverse population.

PURPOSE: To design a replicable simulation curriculum collaboratively with the transgender and gender diverse community to improve clinician knowledge and comfort with providing reproductive care to this population. METHODS: This is a prospective, single arm pre-post analysis of obstetrics and gynecology residents at a single academic institution after completion of a novel simulation curriculum. The primary outcome was the change in resident comfort and knowledge in providing transgender and gender diverse patient care. A thematic analysis of learner and standardized patient free text responses was analyzed for insights on perceived learner experiences. RESULTS: This curriculum was created with iterative feedback from the transgender community and involved only transgender and gender diverse-identified standardized patients. Thirty residents participated, with 22 responding to both the pre-and post-curriculum surveys, and 11 responding to a 6-month post-curriculum survey. There were significant improvements in learner comfort and knowledge after participation that were found to persist at 6 months. Qualitative analysis demonstrated that this was a positive and powerful learning experience for both residents and standardized patients. CONCLUSIONS: This simulation curriculum may be an effective and impactful tool to increase trainee comfort and knowledge of transgender and gender diverse patient care, which is important given the lack of physician training in the care for these individuals. By building the foundation with resident learners, the ultimate goal is to enhance the pool of clinicians confident and capable of caring for transgender and gender diverse patients, to increase access to care, and to improve health outcomes in this vulnerable population.

A gynaecologic perspective on cloacal malformations.

PURPOSE OF REVIEW: Advances in surgical reconstruction of cloacal malformations have led to better functional outcomes and quality of life. As a result, adolescents and women born with these complex malformations will have the same aspirations as their peers including sexual relationships and fertility. RECENT FINDINGS: Currently, there is a paucity of data on gynaecologic outcomes and sexual function, and obstetric data are limited primarily to case reports. Making evidence-based clinical recommendations is difficult for gynaecologic providers. Unique gynaecologic issues can arise in infancy, adolescence or adulthood. Recognition and appropriate management of these complications is imperative to maximize sexual esteem and preserve future fertility. Pregnancy requires adequate prenatal preparation and specialized multidisciplinary care under an experienced obstetrician and urologist. SUMMARY: This review highlights the issues that may be encountered in providing gynaecologic care to patients with cloacal malformations, presents the available literature to provide informative evidence and identifies gaps in knowledge in order to suggest potential future research opportunities.

Screening for mutations in 17ß-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.

CONTEXT AND OBJECTIVE: The precise diagnosis of partially virilised women with 46,XY disorders of sex development (DSD) is often obscure. In practice, this group often comes under the poorly defined, clinically based label of partial androgen insensitivity syndrome (PAIS). In a previous study, we found that 5α-reductase 2 (SRD5A2) mutations occurred in 43% of women in this subgroup. We expand this work to include biochemical and genetic screening for 17ß-hydroxysteroid dehydrogenase (HSD17B3) and androgen receptor (AR) mutations. METHODS: Analysis of serum androgens (androstenedione and testosterone) and genetic analyses for HSD17B3 and AR were performed in 42 women from 36 pedigrees with partially virilised 46,XY DSD in whom SRD5A2 deficiency had been excluded by urine steroid profiling. RESULTS: Out of 36 unrelated women, 14 (38%) were found to have HSD17B3 mutations and one (2.7%) to have an AR defect. Six novel pathogenic HSD17B3 mutations were identified: three splice site mutations and three missense changes. Seven patients with HSD17B3 deficiency tested before gonadectomy had basal testosterone/androstenedione (T/A) ratio <0.8 (sensitivity 100% and specificity 91%). CONCLUSIONS: HSD17B3 deficiency is prevalent in the adolescent and adult 46,XY female DSD population and is often associated with lesser degrees of virilisation compared with those with 5α-reductase deficiency. This diagnosis should be considered for individuals labelled as PAIS, particularly, but not exclusively, those who present with virilisation at puberty or primary amenorrhoea. Before gondadectomy, T/A ratio is useful to aid diagnosis, but after gonadectomy sequencing of HSD17B3 must be performed to confirm the diagnosis.