The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. Although women with CAH have decreased fecundity, they are able to conceive; thus, if pregnancy is not desired, contraception options should be offered. If fertility is desired, women with classic CAH should first optimize glucocorticoid treatment, followed by ovulation induction medications and gonadotropins if needed. Due to the possible pregnancy complications and implications on the offspring, preconception genetic testing and counseling with a high-risk obstetrics specialist is recommended. For couples trying to avoid having a child with CAH, care with a reproductive endocrinology and infertility specialist to utilize in vitro fertilization can be offered, with or without preimplantation genetic testing for monogenic disorders. Prenatal screening and diagnosis options during pregnancy include maternal serum cell free-DNA for sex of the baby, and chorionic villus sampling and amniocentesis for diagnosis of CAH. Pregnant women with classic CAH need glucocorticoids to be adjusted during the pregnancy, at the time of delivery, and postpartum, and should be monitored for adrenal crisis. Maternal and fetal risks may include chorioamnionitis, maternal hypertension, gestational diabetes, cesarean section, and small for gestational age infants. This review on CAH due to 21-hydroxylase deficiency highlights reproductive health including genetic transmission, contraception options, glucocorticoid management, fertility treatments, as well as testing, antenatal monitoring, and management during pregnancy, delivery, and postpartum.

Anatomic nomenclature and 3-dimensional regional model of the human ovary: call for a new paradigm.

The ovaries are the female gonads that are crucial for reproduction, steroid production, and overall health. Historically, the ovary was broadly divided into regions defined as the cortex, medulla, and hilum. This current nomenclature lacks specificity and fails to consider the significant anatomic variations in the ovary. Recent technological advances in imaging modalities and high-resolution omic analyses have brought about the need for revision of the existing definitions, which will facilitate the integration of generated data and enable the characterization of organ subanatomy and function at the cellular level. The creation of these high-resolution multimodal maps of the ovary will enhance collaboration and communication among disciplines and between clinicians and researchers. Beginning in March 2021, the Pediatric and Adolescent Gynecology Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development invited subject-matter experts to participate in a series of workshops and meetings to standardize ovarian nomenclature and define the organ's features. The goal was to develop a spatially defined and semantically consistent terminology of the ovary to support collaborative, team science-based endeavors aimed at generating reference atlases of the human ovary. The group recommended a standardized, 3-dimensional description of the ovary and an ontological approach to the subanatomy of the ovary and definition of follicles. This new greater precision in nomenclature and mapping will better reflect the ovary's heterogeneous composition and function, support the standardization of tissue collection, facilitate functional analyses, and enable clinical and research collaborations. The conceptualization process and outcomes of the effort, which spanned the better part of 2021 and early 2022, are introduced in this article. The institute and the workshop participants encourage researchers and clinicians to adopt the new systems in their everyday work to advance the overarching goal of improving human reproductive health.

Reproductive health and knowledge among youth with sickle cell disease.

Knowledge related to reproductive health in adolescents with sickle cell disease (SCD) is not fully addressed. We evaluated reproductive health and knowledge among adolescent girls with SCD. Seventy-nine adolescents, 13-21 years of age completed a survey on reproductive health and knowledge with menarche age 13.2 (± 1.7) years. Fifty-four percent reported dysmenorrhea and 49% reported SCD pain a week before menstrual cycle. Sixty-two percent reported discussing contraception and pregnancy with medical providers. Adolescents reported late menarche, dysmenorrhea, and pain with menses. Knowledge of overall reproductive health was inadequate. There is an urgent need to improve reproductive education in this population.

A Clinical Program for Transgender and Gender-Diverse Neurodiverse/Autistic Adolescents Developed through Community-Based Participatory Design.

Objective: A series of studies report elevated rates of autism and autistic characteristics among gender-diverse youth seeking gender services. Although youth with the co-occurrence present with complex care needs, existing studies have focused on co-occurrence rates. Further, clinical commentaries have emphasized provider-centered interpretations of clinical needs rather than key stakeholder-driven clinical approaches. This study aimed to employ community-based participatory research methodologies to develop a key stakeholder-driven clinical group program.Method: Autistic/neurodiverse gender-diverse (A/ND-GD) youth (N = 31), parents of A/ND-GD youth (N = 46), A/ND-GD self-advocates (N = 10), and expert clinical providers (N = 10) participated in a multi-stage community-based participatory procedure. Needs assessment data were collected repeatedly over time from A/ND-GD youth and their parents as the youth interacted with one another through ongoing clinical groups, the curriculum of which was developed progressively through the iterative needs assessments.Results: Separate adolescent and parent needs assessments revealed key priorities for youth (e.g., the importance of connecting with other A/ND-GD youth and the benefit of experiencing a range of gender-diverse role models to make gender exploration and/or gender affirmation more concrete) and parents (e.g., the need for A/ND-related supports for their children as well as provision of an A/ND-friendly environment that fosters exploration of a range of gender expressions/options). Integration and translation of youth and parent priorities resulted in 11 novel clinical techniques for this population.Conclusions: With generally high acceptability ratings for each component of the group program, this study presents a community-driven clinical model to support broad care needs and preferences of A/ND-GD adolescents.

A View from the past into our collective future: the oncofertility consortium vision statement.

PURPOSE: Today, male and female adult and pediatric cancer patients, individuals transitioning between gender identities, and other individuals facing health extending but fertility limiting treatments can look forward to a fertile future. This is, in part, due to the work of members associated with the Oncofertility Consortium. METHODS: The Oncofertility Consortium is an international, interdisciplinary initiative originally designed to explore the urgent unmet need associated with the reproductive future of cancer survivors. As the strategies for fertility management were invented, developed or applied, the individuals for who the program offered hope, similarly expanded. As a community of practice, Consortium participants share information in an open and rapid manner to addresses the complex health care and quality-of-life issues of cancer, transgender and other patients. To ensure that the organization remains contemporary to the needs of the community, the field designed a fully inclusive mechanism for strategic planning and here present the findings of this process. RESULTS: This interprofessional network of medical specialists, scientists, and scholars in the law, medical ethics, religious studies and other disciplines associated with human interventions, explore the relationships between health, disease, survivorship, treatment, gender and reproductive longevity. CONCLUSION: The goals are to continually integrate the best science in the service of the needs of patients and build a community of care that is ready for the challenges of the field in the future.

Variations in the management of adolescent adnexal torsion at a single institution and the creation of a unified care pathway.

PURPOSE: Adnexal torsion is a gynecologic emergency, requiring intervention for tissue preservation. At our institution, torsion is managed by pediatric surgeons or gynecologists. We evaluated differences between specialties to streamline evaluation for children with gynecological emergencies, develop a clinical pathway, and prevent care delays. METHODS: A retrospective review of adolescents undergoing intervention for adnexal torsion from 2004-2018 was performed. Differences in time to intervention, operation duration, the procedure performed, and length of stay (LOS) between the specialties were analyzed. RESULTS: Eighty-six patients underwent 94 operations for presumed adnexal torsion with 87 positive cases. Pediatric surgeons performed 60 operations and 34 cases were performed by gynecologists. Preservation of fertility was the goal in both cohorts and the rate of oophoropexy, cystectomy, and oophorectomy were similar between the cohorts (p = 0.14, p = 1.0, p = 0.39, respectively). There was no difference in intra-operative time (p = 0.69). LOS was shorter in the gynecology cohort (median 1 day [1-2] vs. 2 days [2-3], p > 0.001). CONCLUSIONS: Adnexal torsion is a time-sensitive diagnosis requiring prompt intervention for ovarian or fallopian tube preservation. A multidisciplinary institutional care pathway should be developed and implemented.

Ovarian Histopathology in Transmasculine Persons on Testosterone: A Multicenter Case Series.

BACKGROUND: As transmasculine persons utilize androgen gender affirming hormone therapy as a part of transition, guidance has been lacking on the effects of the therapy on the ovaries, especially for those who may desire retention. AIM: To describe the ovarian histopathology of transmasculine persons on testosterone therapy following oophorectomy at the time of hysterectomy performed for gender affirmation. METHODS: This was a multicenter case series study of transmasculine patients on testosterone therapy who underwent hysterectomy with oophorectomy for gender affirmation between January 2015 and December 2017 at 5 tertiary care referral centers. Patients were identified by their current procedural and International Classification of Diseases codes. OUTCOMES: Pre-, perioperative, and pathologic data were obtained from the electronic medical records and ovarian tissue descriptions from pathology reports were grouped into the following classifications: (i) simple/follicular cysts; (ii) polycystic ovaries; (iii) complex cysts; (iv) endometriomas; (v) other masses; (vi) atrophy; and (vii) normal. RESULTS: 85 patients were included in the study. At the time of oophorectomy, the mean age and body mass index of the cohort were 30.4 ± 8.4 years and 30.2 ± 7.3 kg/m2, respectively, and the average interval from the initiation of testosterone to oophorectomy was 36 0.3 ± 37.9 months. On examination of ovarian histopathology, 49.4% (42) of specimens were found to have follicular/simple cysts, 5.9% (5) were polycystic, and 38.8% (33) had normal pathology. For those specimens with volume documented (n = 41), the median volume was 9.6 (range 1.5-82.5) cm3. There was no association between the duration of testosterone therapy or body mass index and the presence of cysts in the ovaries. CLINICAL IMPLICATIONS: The results of this study reported benign histopathology in ovaries of a large cohort of transmasculine persons on testosterone which should be included when counseling patients on ovarian retention, as transmasculine patients may choose to retain their ovaries while on testosterone for a variety of reasons (including no desire to undergo surgery, desire for backup sex steroids, and potential use for future fertility). STRENGTHS & LIMITATIONS: This is a large multicenter study seeking to address the uncertainty in present counseling surrounding ovarian conservation in transmasculine persons on testosterone therapy. Its limitations included its retrospective nature and inability to address ovarian function after testosterone discontinuance. CONCLUSION: In this cohort of transmasculine patients on testosterone therapy undergoing hysterectomy with oophorectomy for gender affirmation, ovarian histopathology was benign in all the specimens. Grimstad FW, Fowler KG, New EP, et al. Ovarian Histopathology in Transmasculine Persons on Testosterone: A Multicenter Case Series. J Sex Med 2020;17:1807-1818.

Transgender Men and the Gynecologist.

Recently, greater attention has been paid to the care of gender dysphoric and gender incongruent individuals. Gynecologists may be called upon to care for individuals who were assigned female at birth throughout or following social, medical, or surgical gender transition. Thus, gynecologists need to be aware of language regarding sex and gender, treatment typically used for the care of gender dysphoric or incongruent individuals, and aspects of well gynecologic care necessary for these individuals. This review highlights these aspects of care for transgender males to aid the general gynecologist in the care and treatment of these individuals.

Uterine pathology in transmasculine persons on testosterone: a retrospective multicenter case series.

BACKGROUND: As part of transition, transmasculine persons often use testosterone gender-affirming hormone therapy; however, there is limited data on its long-term effects. The impact of exogenous testosterone on uterine pathology remains unclear. While testosterone achieves amenorrhea in the majority of this population, persistence of abnormal uterine bleeding can be difficult to manage. Excess androgens in cisgender females are associated with pathologic uterine processes such as polycystic ovary syndrome, endometrial hyperplasia, or cancer. There are no guidelines for management of abnormal uterine bleeding or endometrial surveillance in this population. OBJECTIVE: The aim of this study was to describe the characteristics of uterine pathology after the initiation of testosterone in transmasculine persons. MATERIALS AND METHODS: A retrospective, multicenter case series was performed. Uterine pathology reports of transmasculine persons who received testosterone and subsequently underwent hysterectomy were reviewed. The endometrial phase and endometrial thickness were recorded. RESULTS: A total of 94 subjects met search criteria. The mean age of participants was 30 ± 8.6 years, and the mean interval from initiation of testosterone to hysterectomy was 36.7 ± 36.6 months. Active endometrium was found in the majority of patients (n = 65; 69.1%). One patient had complex hyperplasia without atypia. There were no cases of endometrial cancer. CONCLUSION: Despite amenorrhea in the majority of transmasculine persons on testosterone, endometrial activity persists with predominantly proliferative endometrium on histopathology. Individualized counseling for abnormal uterine bleeding is encouraged in this patient population.

The National Physicians Cooperative: transforming fertility management in the cancer setting and beyond.

Once unimaginable, fertility management is now a nationally established part of cancer care in institutions, from academic centers to community hospitals to private practices. Over the last two decades, advances in medicine and reproductive science have made it possible for men, women and children to be connected with an oncofertility specialist or offered fertility preservation soon after a cancer diagnosis. The Oncofertility Consortium's National Physicians Cooperative is a large-scale effort to engage physicians across disciplines - oncology, urology, obstetrics and gynecology, reproductive endocrinology, and behavioral health - in clinical and research activities to enable significant progress in providing fertility preservation options to children and adults. Here, we review the structure and function of the National Physicians Cooperative and identify next steps.

Guidelines for pediatric anogenital examination: Insights from our vulvar dermatology clinic.

To our knowledge, there are no guidelines in the dermatology literature for performing anogenital examinations in prepubescent children. Based on experience in our joint pediatric dermatology-gynecology vulvar clinic, we aim to provide a framework for conducting genital examinations in children, focusing on the vulvar examination. Our goal is to enhance confidence in the pediatric dermatologist's ability to perform thorough examinations by providing general principles as well as concrete "do's" and "don'ts" that will create a maximally comfortable and productive experience. These steps will help create a positive experience for the patient and family, encouraging further follow-up and enhancing the overall well-being of the child.

Gynecological challenges in the diagnosis and care of patients with DSD: The role of the obstetrician gynecologist in the multidisciplinary approach to the patient.

Disorders (differences) of sex development (DSD) are identified when there is atypical chromosomal, gonadal, or anatomic sex. Given the complexity of DSD conditions, the consensus guidelines recommend that affected individuals be evaluated and cared for by teams with expertise in DSD conditions. Obstetrician gynecologists are experts in genital and reproductive anatomy, hormonal function, fertility, sexuality, and obstetrics, allowing them to provide a unique and essential function within the DSD team. Furthermore, obstetrician gynecologists with expertise in Pediatric and Adolescent Gynecology may follow individuals from birth into adulthood and provide reproductive health care for all ages, allowing these patients to "grow up" with them. Thus it is essential that gynecologists be part of a multidisciplinary team from birth through the reproductive lifespan. The purpose of this paper is to describe the role that the obstetrician gynecologist plays in the care of individuals with DSD conditions.

Current review of prepubertal vaginal bleeding.

PURPOSE OF REVIEW: Prepubertal vaginal bleeding raises many concerns and evaluation and diagnosis may prove difficult for many providers. We aim to provide a comprehensive review and recent updates for those practitioners who care for these patients. RECENT FINDINGS: Prompt management in the case of prepubertal vaginal bleeding is indicated, especially to rule out malignancy or abuse. If a child is reluctant to undergo examination, or if the extent of injury or source of bleeding cannot be determined, examination under anesthesia and vaginoscopy is recommended. Use of vaginoscopy allows for clear visualization of the vagina and cervix without distorting hymenal anatomy, as well as diagnosis and removal of a foreign body and evaluation of mucosal damage caused. In the case of sexual abuse, providers specifically trained in pediatrics need to be present, and safety of the patient should always be ensured. SUMMARY: Careful history taking and targeted examination may lead to diagnosis in the case of prepubertal vaginal bleeding. However, in more difficult cases, practitioners should not hesitate to examine a patient in the operating room using general anesthesia to elicit the cause. Although sexual abuse and malignancy are always on the differential, most causes of bleeding are benign and easily treated.

Obstructive anomalies of the gynecologic tract.

PURPOSE OF REVIEW: This review discusses current diagnosis, management and outcomes of obstructive anomalies of the gynecologic tract. RECENT FINDINGS: In this review, we will discuss the clinical presentation of obstructive anomalies, surgical management and reproductive outcomes following surgical intervention. SUMMARY: Identification of obstructive anomalies of the gynecologic tract is crucial when evaluating patients presenting with or without menses and cyclical pain. Surgical management is often the preferred modality for treatment, although menstrual suppression is recommended in certain circumstances.

Trends, in Diagnosis and Treatment of Polycystic Ovarian Syndrome by Specialty.

OBJECTIVE: To identify trends in the diagnostic work- up of polycystic ovarian syndrome (PCOS) performed by specialists in general medicine, endocrinology, and gynecology. STUDY DESIGN: Ret- rospective electronic chart review of adolescents and young women whose workup for PCOS was initiated by specialists in endocrinology, general medicine, or gyne- cology. RESULTS: Of 530 charts reviewed, 84 patients quali- fied for inclusion. Approximately two-thirds of patients seen by generalists and endocrinologists had lipid test- ing done; no gynecologist in this study ordered lipid tests. Cortisol levels and markers of congenital adrenal hyperplasia were more often ordered for patients seen by endocrinologists than for those seen by generalists or gynecologists. There was no significant difference among specialties in the use of diagnostic criteria for PCOS, including menstrual irregularity, hyperandrogenism, ovarian imaging, or exclusion of other etiologies. Women seen by endocrinologists tended to be prescribed met- formin more often; however, there was no significant difference in the use of hormonal contraceptives, piogli- tazone, and spironolactone among specialties. CONCLUSION: Across 3 clinical practice specialties commonly evaluating menstrual irregularity and/or hirsutism in young women, patients were consistently diagnosed with PCOS based on appropriate, clinically- accepted criteria. However, no patients seen by gyne- cologists received lipid test- ing, which is considered an important screening study for cardiovascular disease risk in this population.

Analysis: Fertility Preservation.

This commentary considers the viability of ovarian tissue cryopreservation (OTC) in the case of an adult who qualified for brain death. Although there has been some success with OTC in achieving pregnancy when the tissue is reimplanted in the original donor, attempting OTC in the case under discussion would have not been medically feasible.