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

Phelan, Niamh; Williams, Emma L; Cardamone, Stefanie; Lee, Marilyn; Creighton, Sarah M; Rumsby, Gill; Conway, Gerard S
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 5alpha-reductase 2 (SRD5A2) mutations occurred in 43% of women in this subgroup. We expand this work to include biochemical and genetic screening for 17beta-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 5alpha-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.
PMID: 25740850
ISSN: 1479-683x
CID: 1716292

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

Kreines, Fabiana Maria; Quinn, Gwendolyn P; Cardamone, Stefanie; Pi, Guillermo E; Cook, Tiffany; Salas-Humara, Caroline; Fino, Elizabeth; Shaw, Jacquelyn
PURPOSE/OBJECTIVE: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.
PMID: 36355246
ISSN: 1573-7330
CID: 5357432

66. Assessment of Resident Use of Evidence-Based Practice in Pediatric and Adolescent Gynecology Utilizing Objective Structured Clinical Examination (OSCE) [Meeting Abstract]

Cardamone, S; Vieira, D; Winkel, A
Background: Clinical exposure to Pediatric and Adolescent Gynecology (PAG) varies amongst residency programs 1,2. In areas such as PAG where clinical exposure may be limited, residents need solid evidence-based practice (EBP) skills to guide future independent practice. The OSCE format presents an opportunity to simulate a clinical scenario that residents may not encounter in their training, objectively assess performance, and increase learner motivation to continue building skills. This study evaluates resident performance on an EBP OSCE station based on a core PAG topic in order to evaluate its ability to provide program-level evaluation of the skills of evidence-based practice in PAG and provide actionable feedback to learners.
Method(s): A hybrid simulation/OSCE station was developed to assess core skills of EBP in the management of labial adhesions. A behaviorally anchored scoring checklist was developed for each component of the station and scored separately and independently by a single medical librarian and standardized patient. Mixed methods evaluation of performance by residents of all levels of residency training was done, focusing on quantitative analysis of EBP performance with thematic analysis of qualitative evaluation data.
Result(s): 30 Obstetrics and Gynecology residents participated in the PAG EBP OSCE station (9 PGY1, 10 PGY2, 6 PGY3, 5 PGY4). The overall mean score for all residents was 57% (+/- 18 SD). Mean scores by PGY increased between first and second year, but did not increase further in later years of training with the largest variation in performance in the PGY4 year (Figure 1). Thematic analysis of the qualitative feedback on residents' search strategies revealed useful insights at a programmatic level (Table 1). Upper level residents often used a less robust search strategy of the literature, instead opting for a database they had some familiarity with to guide their recommendations without searching for corroborating evidence or additional sources.
Conclusion(s): OSCE provides a feasible standardized way to observe, assess and encourage development of core EBP skills. A slight developmental trend was seen with improving scores among junior residents between the first and second years of training. However, this trend did not continue between the final years of training. The fact that scores did not increase linearly suggests that clinical training may not reinforce EBP skills. The importance of EBP skills is magnified in PAG where clinical exposure and experience amongst trainees may be limited. In addition to improving resident education in PAG, medical educators must continue to develop and implement interventions to teach and reinforce EBP skills to trainees to bring to future independent practice. [Formula presented] [Formula presented]
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EMBASE:2005421133
ISSN: 1083-3188
CID: 4373942

A gynaecologic perspective on cloacal malformations

Cardamone, Stefanie; Creighton, Sarah
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.
PMID: 26308202
ISSN: 1473-656x
CID: 2063352

ONCOFERTILITY PROGRAM FOR ADOLESCENTS AND YOUNG WOMEN WITH CANCER: EARLY EXPERIENCES AND TRENDS IN A UNIQUE POPULATION. [Meeting Abstract]

Cardamone, SC; Noyes, N; Melzer, K; Fino, ME
ISI:000209842700394
ISSN: 1556-5653
CID: 2634142

FERTILITY PRESERVATION IN ADOLESCENTS AND YOUNG WOMEN WITH CANCER: DOES MALIGNANCY ADVERSELY AFFECT OVARIAN FUNCTION? [Meeting Abstract]

Cardamone, S; Noyes, N; Melzer, K; Fino, ME
ISI:000209842700036
ISSN: 1556-5653
CID: 2634132