Building Trust: The History and Ongoing Relationships Amongst DSD Clinicians, Researchers, and Patient Advocacy Groups

Abstract

Individuals born with differences or disorders of sex development (DSD) have been marginalized by society and the health care system. Standards of care in the mid-20^th century were based on fixing the child with a DSD, using hormonal and surgical interventions; these treatments and the diagnoses were almost never disclosed to the child, and sometimes they were not disclosed to the parents. This led to secrecy, shame, and stigma. When these children became adults and demanded access to their medical records, the realization of the depth of secrecy led to the formation of activism groups that shook the medical community. Despite precarious beginnings, advocates, health care professionals, and researchers were able to elicit changes in the standard of care. The 2006 Consensus Statement on Management of Intersex Disorders called for a multidisciplinary approach to care and questioned the evidence for many of the standard procedures. Standard of care moved from a concealment model to a patient-centered paradigm, and funding agencies put resources into determining the future paths of research on DSD. Recognition of the need to address patient priorities led to changing international standards for including patients in research design. Some challenges that remain include: the findings from the Institute of Medicine that sexual and gender minorities experience poor health outcomes; establishing trust across all parties; developing a common language and creating venues where individuals can participate in dialogue that addresses personal experiences, research design, clinical practices and intervention strategies.

Key words

androgen - fertility - ovary - testes

A Brief History of Medical Treatment of Differences/Disorders of Sex Development

Medical treatment of hermaphroditism, now known as intersex and/or differences/disorders of sex development (DSD), began in the 1930 s. By the 1950 s, physicians identified many DSD at birth based on endocrinological analyses and anatomical structures (i. e., length of clitoris or phallus, presence or absence of a vaginal canal, location of urethra, etc.). One of the biggest controversies has been the subject of gender assignment: should the child be raised as a girl or a boy? If physicians assigned the wrong sex, what would be the outcomes for the family, for the child, and for the physician? Physicians hypothesized that intersex people were truly male or female but had not developed fully in the womb and needed hormone treatment and surgical interventions to complete the formation of an intersexed adult into a normal man or woman [1]. The primary medical concern was the appearance of the external genitalia. Clinicians attempted to create binary male or female genitalia that the family and society would accept. These procedures included: clitoral amputation or resection and shaping; extensive and multiple penile surgeries; gonadectomies and vaginoplasties.

The ability to surgically change the genital appearance created a situation in which the physician and the family decided the gender of the child in cases when the answer was not clear. This led to the optimal gender hypothesis, which operated under the assumption that gender identity is an outcome of a gender socialization that is fluid until approximately 18 months of age. This hypothesis stated that nurture could override nature, which necessitated that the genitals had an appropriate appearance that matched the assigned gender, and required reinforcement of assigned sex and gender role behaviors, as well as social and environmental conditioning [1]. Another requirement of this hypothesis was that the child (and often the parents) could never know about the diagnosis or the corrective surgery. Concealing this information required creation of elaborate scenarios that were often implausible to patients. Untruths and unanswered questions, combined with frequent medical display and photography, left patients with deep feelings of shame, secrecy, isolation and fear, with cardinal questions about their own bodies and their own medical history [2].

Standard of care for babies and young children with genital differences included early genitoplasty to match the genitalia with the assigned sex of rearing. This paradigm prioritized male over female sexual pleasure, and female over male fertility. Because it was technically easier to build a vaginal canal than a phallus, children with XY DSD and a penis deemed inadequate for penetrative intercourse were assigned female. Surgeons removed the inadequate penis and testes (even if they were at the low end of normal) to create a neovagina [3] [4]. Children with Congenital Adrenal Hyperplasia (CAH) were primarily assigned a female sex and most underwent clitoralplasty to create genitalia that conformed to a clearly female anatomy.

The optimal gender hypothesis came under question in the 1970 s, when long-term outcome studies challenged the central tenet that sex of rearing determined gender identity [5]. One of the most compelling arguments against this hypothesis stemmed from a longitudinal study of 38 individuals (18 raised as females) with deficiencies in steroid 5-α-reductase 2 (SRD5A2). As their bodies spontaneously responded to testosterone surges during puberty, 17 out of 18 individuals spontaneously changed gender identity from female to male and 16 adopted a male gender role [6]. Confidence in the optimal gender hypothesis shattered in the 1990 s during follow-up studies of the John vs. Joan case. John, a typical 22 month-old boy, sustained a severe penile injury during circumcision. Following advice of psychologists and physicians who supported the optimal gender hypothesis, he was subjected to sex-reassignment surgery, psychological treatment, and renamed Joan. Initial reports boasted tremendous success in the sex reassignment surgery [7]. However, follow-up studies conducted by an independent team reported that Joan rejected her assigned sex at puberty, underwent reconstructive surgery and lived in adulthood as a male named David [8]. David married and became a stepfather to 3 children. As an adolescent and young adult he suffered through substance abuse and, unfortunately, took his life in 2004.

Patients and Advocacy Groups Stand Up and Speak Out

In 1993, Cheryl Chase (a pseudonym for Bo Laurent) founded The intersex Society of North America (ISNA) (http://www.isna.org) to advocate for patients and families who experienced harm from their experiences with the health care system [9]. ISNA members ultimately found that many clinicians were uninterested in their experiences, which led to confrontational exchanges with health care workers. Activists, including ISNA and other intersex organizations, picketed hospitals and conferences, using tactics that were effective for those advocating for AIDS and breast cancer reforms [9]. One demonstration involving activists occurred at a medical center during Grand Rounds, when a 13 year old was scheduled for surgery. The child had assented to the procedure, but the demonstration shamed the family, who rescheduled the surgery at a later, unannounced date. While these types of tactics may be good at creating awareness and educating the public, they can have long-lasting negative impacts on the very patient population advocates are trying to help. Although ISNA evolved into a more collaborative organization, its early actions created some persistent negative stereotypes that are still applied to some support and advocacy groups [9].

Despite some charged exchanges between ISNA members and health care professionals, ISNA was successful in its mission to improve health care for individuals with DSD. In 2006, Cheryl Chase and other ISNA members partnered with Alice Dreger Ph.D. [9], who helped mend the relationships with clinicians and led to the development of a plan that focused on patient-centered care [9] [10] and collaboration with the medical community [9]. This collaboration led to the formation of Accord Alliance (http://www.accordalliance.org/) and the publication of 2 important handbooks: Clinical Guidelines for Management of Disorders of Sex Development in Childhood [11] and A Handbook for Parents [12]. These handbooks were produced with input from clinicians, affected individuals, and family members and are available as free downloads.

The largest effort to improve standard of care for treatment and management of DSD stemmed from the 2005 International Consensus Conferences on Intersex. The focus of the 50-member meeting, convened by The Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, was to evaluate clinical management of DSD from multiple perspectives, using evidence-based studies. This included long-term psychosocial and quality of life outcomes from individuals with DSD, to determine future studies aimed at improving standard of care [13]. Some major outcomes from the 2006 Consensus Statement included recommendations for: 1) a focus on patient-centered care that includes psychosocial support for the family during the traumatic diagnosis period; 2) a multidisciplinary approach (i. e., endocrinologists, geneticists, urologists, surgeons, psychologists, social workers, genetic counselors, etc.) for diagnosis, gender assignment and treatment/management options; 3) the involvement of families in the decision-making process, as open communication and psychological support are essential to well-being and integral to optimal care; 4) a more cautious approach to surgery, which should be focused on preserving functional outcomes, not cosmetic appearance; 5) restricting clitoroplasty to severe cases and conducting vaginoplasties and vaginal dilation after puberty; and 6) adoption of standardized nomenclature that shifts the focus from genitals and gender (i. e., sex reversal, psuedohermaphroditism, Intersex and gender-based labels) to the medical problems faced by the DSD community.

Building Bridges: Working Together Post-Consensus

How much things have changed since the Consensus Statement is a matter of debate. Some recommendations have been widely instituted, including a multi-disciplinary approach to care. Despite persistent concerns voiced by many support and advocacy groups, some of the most important components have yet to be implemented. Recent reports demonstrate that peer support groups prioritize clinician and researcher engagement with the affected community [9]. However, rates of referral to peer support are low [14], and families report scant access to psychological support. In addition, surgical practices in cases of 46,XX CAH are, for the most part, unchanged [15] [16].

A second major milestone occurred at the 2009 DSD Research and Quality Improvement Symposium [17], a DSD symposium co-hosted by Accord Alliance, a nonprofit organization that spans all DSD, and The University of Michigan. The symposium led to the formation of a large, NIH-funded collaboration that encompasses 7 DSD clinics across the United States. The mission of the Disorders of Sex Development-Translational Research Network (DSD-TRN; https://dsdtrn.genetics.ucla.edu) is to improve care for all who are affected by DSD. Accord Alliance oversees a board of patient advocates representing a wide array of conditions (Advocacy Advisory Network; AAN) that provides input, feedback, and support to the DSD-TRN. To ensure a faithful representation of the breadth of DSD, these patient advocates have encouraged the DSD-TRN to push for further studies exploring evidence-based medicine. The AAN adopted an inclusive approach to DSD; members represent many conditions, including hypospadias and Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Each member is broadly conversant in DSD care and serves many areas of advocacy. Although many support groups agree with the strategies laid out by the AAN, others take alternate stances. For example, the CARES Foundation (http://www.caresfoundation.org), which supports families and individuals with CAH, adopts different clinical strategies and priorities, and many members do not identify as having a DSD.

In 2011, the Institute of Medicine (IOM) released a report entitled: The Health of Lesbian, Gay, Bisexual, and Transgender People: Building a Foundation for Better Understanding from the Institute of Medicine [18]. This report states, “The committee acknowledges that while very little research exists on the subject of intersexuality, it is a separate research topic encompassing critical issues, most of which are not related to LGBT issues, and hence is beyond the scope of this report.” Although the IOM did not include DSD/Intersex conditions in its report, individuals within the National Institutes of Health (NIH) acknowledged major research gaps that affect the DSD community.

To address these issues, the NIH put considerable effort into advancing DSD research. In late 2013, the Eunice Kennedy Shriver National Institute of Child Health and Human Development released a Request for Information (RFI) NOT-HD-13-019 entitled: Invitation to Comment on Critical Issues in Child Development for Children and Families Affected by Disorders of Sex Development (DSD) (http://grants.nih.gov/grants/guide/notice-files/NOT-HD-13-019.html). The goal was to gather information from families, affected individuals, researchers, clinicians, support groups and medical societies to form the agenda of a multidisciplinary scientific workshop examining the gaps in research on critical developmental issues in infants, children, and adolescents with DSD.

These comments [19] guided the discussion during the 2014 NICHD scientific workshop entitled, Growing up with DSD: Critical Developmental Issues for Children and Families Affected by Disorders of Sex Development. (http://www.nichd.nih.gov/about/meetings/2014/Pages/032714.aspx). This workshop, which was cosponsored by the NIH Office of Rare Diseases Research, brought together clinicians, researchers, advocates, and affected individuals who presented current research findings and explained the lived experiences of those affected by DSD. The focus of this workshop was to identify: 1) gaps in knowledge about the developmental impacts of DSD on affected children and their families; 2) research challenges in DSD care and management; and 3) research questions (including methods) that could be used to develop evidence-based research to inform researchers, clinicians, and all who are affected by DSD about the developmental dimensions of DSD and their implications for clinical care.

Challenges Ahead

Building trust between advocates and the medical community

Despite the progress, there is still disagreement amongst some advocates and healthcare professionals. Some of this is due to differences in opinion on the scientific usefulness of personal accounts, regarded by most scientists as data that are not necessarily representative of all affected individuals. When 2 people stand on opposite sides of the courtroom, anecdotal evidence (along with other more objective data) holds much weight. In the scientific literature, personal stories are regarded as singular events; while most researchers would clearly understand that anecdotal evidence has merit, it is not held to the standards of objective, hypothesis-driven research. In order to gain a broad perspective from the community, more qualitative and quantitative research that acknowledges personal experiences from a variety of populations (e. g., patient advocates, random surveys from patient databases, etc.) is needed. The information obtained from one group (e. g., patient advocates) may share elements of dissatisfaction due to artifacts of the sampling method (i. e., are patient advocates less satisfied with their medical experiences than those who do not join advocacy groups?) rather than due to a general dissatisfaction in overall care and management.

Many advocates remain frustrated that the accounts of patients who experienced harm have not stimulated systematic investigation [20]. Dismissal of personal, lived experiences damages the fragile relationship between advocates and the medical community. It is not easy for those who harbor emotional and physical scars to tell their stories to the medical community that inflicted some of these traumas. Areas of controversy are repeated genital exams, genital photography, and consequences of genital surgery. Current quality of life studies are hampered by small sample size and combining multiple different DSD within one study [21]. The inclusion of more behavioral and psychosocial approaches, typically used by social scientists (e. g., psychologists, social workers, ethnographers, etc.), in research focused on outcomes (socio-emotional and physical) associated with DSD medical decisions is much needed at this time.

Various support groups (especially within the CAH community) have differences of opinion regarding strategies for moving the field forward, inclusion under the DSD umbrella, and clinical treatments. Most members of AIS-DSD (http://aisdsd.org), a support group for all DSD, oppose medically unnecessary surgeries due to the lack of information on long-term quality of life outcomes for affected individuals. In contrast, some members of the CARES Foundation (http://www.caresfoundation.org) are more open to surgical interventions, as evidence suggests that surgeries to normalize genitalia could help a family to accept their child [22]. Recent studies demonstrate the difficulty of addressing this important topic. A series of studies by the Wisniewski group showed that female caregivers experienced parenting stress when their child did not undergo genital surgery [23]. In addition, female caregivers reported a higher degree of vulnerability in boys (vs. girls) with genitalia that did not conform to binary expectations [24]. A follow-up study showed that female caregivers show no evidence of depression or anxiety when caring for females with more masculine genitalia [25]. Although this study is congruent with the vulnerability data, it is not necessarily congruent with the first study, showing that females have more anxiety when their children do not undergo surgical interventions. One caveat to the first study is that the sex of the child was not significant, so one cannot directly compare the 2 data sets. Additional studies aimed at examining parenting behaviors with children who underwent surgery vs. those who did not are necessary to tease out the significance of this series of studies. Interestingly, the latest study in this series shows that male caregivers have less anxiety than females who care for children who have a DSD and a life-threatening condition [26].

Clinicians and researchers are often viewed as being from the same biomedical establishment that contributed to the traumas many have experienced. Finding solutions to this challenge is paramount to moving forward in improving standard of care for those affected by DSD. Integrating multiple disciplines, including medical and social/behavioral designs and combining qualitative with quantitative methods can lead to better understanding of anecdotal data in a scientifically rigorous manner. This is imperative, as the prevalence of an individual DSD can ranges from 1 in 100 to 1 in 100 000 or more. Obtaining adequate sample sizes for rigorous analysis is not trivial; multi-site and collaborative site research will be required. Some studies may require advanced statistical analyses that use mixed model approaches that combine qualitative and quantitative methods.

Finding support: A Role for Peer Support Groups

Many individuals and family members affected by DSD engage in peer support groups ([Table 1]). These groups provide emotional support to families and affected individuals that share a common diagnosis and serve as a source of information to the community [9]. The quality and availability of peer support for DSD is limited by lack of funding and resources, but it is clear that participation of clinicians in peer support groups will enhance both the quality of information groups deliver and clinicians’ understanding of the day-to-day impact of DSD treatment on people’s lives [9] [27] [28],

Table 1 DSD Support Groups, Advocacy Groups, and Legal Advisory Groups.

DSD Represented	Organization	Year	Website	Executive Director/Contact	Contact Info	Country	Information
All DSD	Accord Alliance	2007	http://www.accordalliance.org/	Janet Green	[e-mail]	USA	Advocacy
All DSD	Advocates for Informed Choice	2006	http://aiclegal.org	Kimberly Zieselman, JD	[e-mail]	USA	Inter/Act Youth
All DSD	DSD Families UK	2011	http://www.dsdfamilies.org/index.php		[e-mail]	UK	Multiple Meetings
All DSD	AIS-DSD Support Group for Women and Families	1996	http://aisdsd.org	Georgiann Davis	[e-mail]	USA	Annual Meeting
AIS and other DSD	AIS-DSD Support Group Japan	2011	http://www.aissgjp.org		[e-mail]	Japan
Multiple DSD	Parent Self-Help Groups at Intersexuelle Menschen e. V.	2000	http://shg.intersexuelle-menschen.net	Lucie Veith	[e-mail]	Germany
Multiple DSD	DSD Nederland	2001	http://www.dsdnederland.nl		[e-mail]	Nertherlands
CAH; Turner Syndrome; MRKH	MAGIC Foundation	1989	http://www.magicfoundation.org/www	Dianne Kremidas	[e-mail]	USA
AIS (Androgen Insensitivity Syndrome)	AISSG UK	1998	http://www.aissg.org		[e-mail]	UK	Links to AISSG affiliated groups in other countries
AIS	Associazione Italiana Sindrome da Insensibilità agli Androgeni (AISIA)	2006	http://www.aisia.org		[e-mail]	Italy
AIS	GRAPSIA (AISSG Spain)	2001	http://www.grapsia.org		[e-mail]	Spain
AIS	South African AIS Support Group	1999	http://www.intersex.org.za/index.php/en/	Eugene Van Rooyen	http://www.intersex.org.za/index.php/en/co	South Africa	Workshops; Advocacy; Training
AIS	AISSG Australia	1996	http://www.aissga.org.au	Bonnie	[e-mail]	Australia
Bladder Exstrophy	The Association for the Bladder Exstrophy Community	1999	http://www.bladderexstrophy.com	Pamela Block	[e-mail]	USA
CAH (Congenital Adrenal Hyperplasia)	Congenital Adrenal Hyperplasia Research, Education and Support (CARES) Foundation	2001	http://www.caresfoundation.org	Dina Matos	[e-mail]	USA
CAH	CLIMB (Children Living with Inherited Metabolic Diseases) CAH Support Group	1992	http://www.livingwithcah.com	Sue	[e-mail]	UK	Biannual Meetings
HE (Hypospadias and Epispadias)	Hypospadias Epispadias Association (HEA)	2001	http://www.heainfo.org	Billy Deagan	[e-mail]	USA	Annual Meeting
MRKH (Mayer-Rokitansky-Küster- Hauser) Syndrome; Vaginal Agenesis, Mullerian Agenesis Beautiful You MRKH	Foundation, Inc.	2012	http://www.beautifulyoumrkh.org	Christina Ruth	[e-mail]	USA	Regional Meetings
MRKH	Sisters for Love MRKH Foundation	2014	http://www.sistersforlove.org	Ally Hensley Jacqi Quinlan	http://www.sistersforlove.org/contact.html	Australia	Quarterly Meetings
MRKH	MRKH Organization	2001	http://www.mrkh.org	Esther Morris	Leidolf	[e-mail]	USA
MRKH	MRKH Norge	2011	http://mrkhnorge.no	Lise	[e-mail]	Norway	Annual Meeting
MRKH	Association syndrome de Rokitansky – MRKH	2006	http://www.asso-mrkh.org		[e-mail]	France	Meet-ups, Annual meeting
MRKH	MRKH Syndrom	1998	http://www.mrkh-syndrom.net		[e-mail]	Germany
MRKH	MRKH Connect	2014	http://www.mrkhconnect.org	Kelly or Janet	[e-mail]	UK
Turner Syndrome	Turner Syndrome Society of the United States	1987	http://www.turnersyndrome.org	Cindy Scurlock	[e-mail]	USA
Turner Syndrome	Turner Syndrome Foundation	2008	http://www.turnersyndromefoundation.org	Laura Fasciano	[e-mail]	USA
Turner Syndrome	Childhood Growth Foundation	1970 s	http://www.childgrowthfoundation.org/Default.	Jenny Child	[e-mail]	UK	Research Sponsor
XXY	Beyond XXY	2013	http://xxyintersex.webstarts.com/index.html	Galen Sanderlin	[e-mail]	USA
XXY	Klinefelter Syndrome Association UK	1990	http://www.ksa-uk.net	Sue Cook	[e-mail]	UK	Meet-ups
XXY; XXXY; XXX; XYY	Association for X and Y Chromosome Variations (AXYS)	1989	http://www.genetic.org	James Moore	[e-mail]	USA

This table lists the support groups, advocacy groups, and legal advisory groups that represent the constellation of conditions that fall under the DSD umbrella

Some of the challenges in connecting individuals and families to peer support groups are that: 1) there are inconsistencies in professional support provided amongst the different support groups; 2) only a subset of patients participate in peer support groups; 3) attitudes of providers towards support groups vary widely; and 4) referral rates from clinicians are low [9]. What can peer support groups do to ameliorate these challenges? One potential solution would be for the peer support groups to work more closely with health care providers in providing support to the affected population. This could include co-hosting workshops and establishing an open dialogue.

As clinicians’ attitudes toward support groups vary widely, assessing support groups on evidence-based measures could instill confidence in patient referrals, as support groups report that it is difficult to convince health professionals that support groups are helpful [29]. A survey of urologists demonstrated that while the majority were supportive of prostate cancer support groups, few clinicians referred their patients, mostly because they were skeptical of the medical information disseminated to patients [30]. These data highlight what is necessary for physicians to increase referrals for their patients to support groups. Evidence-based studies of support groups for dementia [31], diabetes [32], and caregivers of psychiatric patients [33] demonstrate that support groups are beneficial for the participants. If DSD support groups were to volunteer for evidence-based studies that address efficacy, it is likely that health care providers would feel more comfortable referring patients. However, in order to conduct these studies, it would be necessary for researchers to investigate the psychological outcomes among support group members and nonmembers. This would entail asking participants in the research to disclose uncomfortable information, and it may be difficult to recruit volunteers for these studies.

Moving Forward Together

Cultural and professional divides separate patients and advocates from health care professionals and researchers. These divides can lead to misunderstandings. Some solutions could be as simple as developing a common language. Words used by the medical community often have very different meanings to nonexperts. One example that divided the community is the term, disorder. To clinicians and researchers, it is a neutral term that states that there is a deviation from the usual order of physiological or biological processes. However, to the lay community, disorder means that something is fundamentally wrong, that they are disordered, challenging their sense of personhood and autonomy. Word choice in study questions is another area where advocates can help, as they can often decode how questions are perceived by study participants and give insight into biases introduced by question design. How does the use of phraseology affect research outcomes? Does a defective gene make the person defective? Should a girl have a phallus or a blind vagina? Are you really female if you are genetically male? How can advocates work more closely with researchers and health care providers to improve language associated with DSD?

Successful collaborations between support groups and clinicians and researchers will: 1) assure clinicians and researchers that advocates and support groups will be even-keeled and not condemn parents’ choices regarding surgery, sex of rearing and disclosure; and 2) reassure advocates that the clinical and research community is committed to continually improving standard of care based, at least in part, on their own experiences. This involves examining decisional regret [34] and informed consent from medical, patient, ethical, and even legal perspectives. Questions that need answering are; How do we create a system of education for patient advocates? How do we ensure that families are not making decisions in a state of emotional distress and that they realistically understand the potential positive and negative consequences? Are all options given? What are the possible consequences of these decisions for the child? For the adult? What practices can be adopted to minimize emotional trauma? What can advocates do to separate past experiences from present circumstances? What does each group need in order to establish trust? What are the common values, priorities and goals? What are the best practices to achieve the agreed upon mutual goals? These questions necessitate difficult conversations to reconcile the competing visions and cultural differences among clinicians, researchers, and patient advocates.

Summary

There has been much progress in incorporating patient perspectives into the design of DSD care and research since the 2006 Consensus Statement, but significant gaps remain [35]. Important recommendations for peer and psychosocial support have yet to be fully implemented in many clinical settings and there are conflicting data on early genital surgery. Differences in opinion persist among the various support groups with regard to treatments and whether or not one has a DSD. Despite advocacy involvement with DSD care, surgical fixes are still commonplace and less-than-full disclosure still occurs. Surgery rates have not decreased significantly and support groups still hear from parents and patients who feel they did not have a full grasp of the information before they agreed upon care. Short-term studies focus on genital appearance and potential function, but do not address real world problems experienced by adults with DSD. Although NIH-funded research has involved the opinions of patient advocates, many feel that their personal accounts are under-represented in important decision-making processes. Due to the potential biases of anecdotal data (personal accounts), it is imperative that future multi-discipline studies assess long-term outcomes from a large, unbiased cohort of affected individuals that represent the full spectrum of DSD diagnoses. Our hope is that continued collaboration among peer support groups, patient advocates, clinicians, and researchers will catalyze quality improvements in health care and psychosocial support, and that incorporating patient perspectives in ongoing DSD update projects will provide guidance for future studies [35]. It is the responsibility of all stakeholders to keep abreast of new research and ideas surrounding care, while concentrating on providing full informed consent to patients and their families. Support provided by advocates and/or advocacy support groups must represent the latest scientific discoveries and be compassionate to provide the best information for patients and their families who are often in crisis.

Conflict of Interest

Dr. Lossie is the President and CEO of the Beautiful You MRKH Foundation. Dr. Lossie and the Beautiful You MRKH Foundation received received no financial compensation for this manuscript.

Acknowledgements

We thank Dr. William T. Riley and Dr. William N. Elwood for critical review of this manuscript. We are indebted to the patients and advocates who support all who are affected by conditions that affect reproductive tract development and to the clinicians, psychologists, and researchers who are devoted to improving the care for all who are affected by DSD. This work was supported, in part, through a grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01 HD068138; DSD-Translational Research Network) to the AAN (JG).

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