41: Social and Medicolegal Issues with DSD
This chapter will take approximately 12 minutes to read.
By Kiarash Taghavi, Nathalie Webb, Chloe A. Hanna, & Jacqueline K. Hewitt
Introduction: The Child’s Wellbeing is at the Centre of Care and Ethical Concern
Making shared-decisions about the well-being of infants, children and adolescents with differences or disorders of sex development (DSD) involves the integration of a complex range of medical, psychosocial, ethical, human rights, and legal considerations.1 The established pillars of multi-disciplinary care of children with DSD within our clinical network include,2,3
- minimising physical risk to the child;
- minimising psychosocial risk to the child;
- preserving the potential for fertility;
- preserving or promoting the capacity to have satisfying sexual relations;
- leaving options open for the future,
- respecting the parents’ wishes and beliefs.
The balance and translation of these principles are individualised to the specific context of each child, family, diagnosis and sociocultural environment.4 It is recognised within this shared decision-making that considerations of “doing something” and “doing nothing” are both active decisions that will have consequences. While the cognitive predisposition may assume that “doing nothing” is more benign, less likely to cause harm and should be the natural default position, all decisions need to be cast upon the background of the growing person at the centre of care and ethical concern. Given the social and medico-legal complexities, sensitive, open and robust communication is of paramount importance so that the patient, family and team are not paralysed by this complexity.
Over time, the Australasian approach to interventions for DSD have evolved for such reasons as:5
- Cessation of the practice of removing gonads solely to align with sex of rearing.6
- Developments in genetics and immunohistochemistry that have allowed for more sophisticated risk stratification of oncogenic potential.7
- Acknowledgement of patient groups advocating for deferral of surgery as well as a lack of universal definition of ‘medically necessary surgery.’
This is in the context of a lack of longitudinal studies articulating the impact of surgery or deferral of surgery.
Without robust evidence to clearly guide optimal management, consideration of surgery for infants with a DSD seeks to strike a balance among known and potential benefits and risks. Benefits may include:8
- Minimising physical risks—e.g., removing gonads with significant oncogenic potential, and inability for adequate surveillance3 due to gonadal position
- Function—e.g., promotion of fertility potential with orchidopexy
The potential for reduction of negative psychosocial impacts on the growing person remains a consideration which is contended. This is because though negative psychosocial impacts can exist, they arise predominantly from external societal stigma.
Risks may include:
- Infants and young children have not yet developed gender identity or had opportunity to express it.
- The young person may experience psychological injury from imposition of gender and/or sex-aligning surgery.
- Fertility options may be reduced.
- The generic and procedure-specific complications of surgery; both short- and long-term.
- Early surgery excludes the young person from participation in decision-making about their body and health.
Historically, surgery was performed in infancy to reduce the risk of urinary tract infections and create a genital appearance that more closely aligned with the sex of rearing. However, although psychological benefits to the child and family are often cited, they remain unproven.9 Conversely, there is evidence that surgery performed during childhood has been associated with poor cosmetic outcome (41%) and requirement for further major surgery (89%).10 Concerns regarding poor clinical outcomes from surgery in infancy have been replicated.11
In 2017 a joint consensus statement by Australian and Aotearoa/New Zealand intersex organisations and independent advocates set out the priorities and calls by the intersex human rights movement in our region.12 This stated that irreversible surgical procedures that are not medically urgent should only be performed at an age when the individual themself can make informed decisions about surgical options. In 2021 the Australian Human Rights Commission published a detailed analysis of the rights of the child to participate in decision making regarding medically unnecessary surgery, recommending independent oversight of the multidisciplinary team with criminal penalties where surgery is performed without medical necessity.13
A 6 year old 46XX female with congenital adrenal hyperplasia (CAH) presents to the multidisciplinary clinic with Prader 5 virilization on physical exam. She is well controlled on mineralocorticoid therapy. The patient is not aware of her diagnosis, but parents are very insistent on surgery to “make her look like a girl.”
From a clinical perspective, this case would be formally presented for discussion at a multi-institution DSD multi-disciplinary team meeting. Members of the team include: endocrinologists, urologists, gynaecologists, allied health, ethicists, geneticists, nurses, researchers, and patient care managers. At this age, decisions should be deferred until adolescence when the young person can be the central decision-maker.14,15
From a practical perspective, it is clear the parents’ wishes for intervention will need careful management in this scenario. Opportunity must be given for the parents to express their concerns, and time taken to explain the rationale for awaiting the child’s agency in the decision. Psychological support is often crucial and also providing an opportunity for the family to connect with peer support. Throughout this journey, the emphasis is on the child’s wellbeing and right to autonomy as the centre of care and concern.
A 13 year old female-appearing patient presented for workup of amenorrhea was found to have a 46XY karyotype and was diagnosed with complete androgen insensitivity syndrome (CAIS). Her parents were informed of the diagnosis and they do not want the provider team to tell the patient about the diagnosis.
Ethics of Disclosure
The parental instinct to “protect” a child from the psychological impact of this diagnosis is understandable’ however, there are a myriad of reasons why it is important to tell truth about the diagnosis of CAIS, in an age-appropriate manner.
According to The Royal Australasian College of Physicians; “consideration must be given to the rights of all children and adolescents to be involved in decision-making about their own health. In particular, cognitively mature adolescents have the right to make decisions relating to their own health and to maintain their privacy, including in respect to their parents/carers”.16
Telling truth to young people with respect to their health promotes an age-appropriate contribution to decision-making, encourages their involvement in the therapeutic relationship, avoids restriction of future autonomy, demonstrates respect for the child as a person, improves well-being, instantiates truthfulness and fidelity.17 When these compelling reasons are presented to the parents, with time and space to comprehend them, agreement to an open conversation is nearly always achieved.
Surgical Aspects of Care
Management of the intra-abdominal testis:
- The risk of malignant change in CAIS is very low (<1%).18 However the risk of partial androgen insensitivity syndrome (PAIS) with intra-abdominal gonads is much higher (up to 50%). It would therefore be important to confirm clinically and via mutational analysis that the diagnosis is CAIS.
- Leaving the testes in-situ has become common practice in confirmed CAIS19 as this facilitates spontaneous breast development and bone mass accrual through endogenous oestradiol created from peripheral aromatisation of high circulating levels of testosterone.18
- The optimal strategy for surveillance14 remains ill-defined. For impalpable gonads, ultrasound assessment, biopsy to stratify or detect malignant change,20 and surveillance for germ cell tumour markers in the serum or semen18 may have a role.
Promoting capacity for satisfying sexual relations.
Individuals with AIS can have satisfying sexual relationships, whether or not they decide to use their vagina. For those who do, most individuals have adequate vaginal capacity for intercourse. A minority will have a degree of vaginal hypoplasia which may make penetrative intercourse challenging.21,22 In selected cases, serial self-dilatation may be helpful if the person wishes to increase vaginal length. Only rarely is surgery required.23,24 Psychosocial supports such as counseling, peer support and gynaecology involvement may assist with this process.
South American Perspective
By Francisca Yankovic, MD, MSc
Social and medico-legal issues are perhaps some of the most important challenges to adequate management of children with variations of sex development (VSD). Latin America, and in particular Chile, has not been exempt from the controversies that have arisen worldwide regarding the question of performing irreversible surgeries that seek to "normalize" the appearance of the external genitalia in children with VSD.
In line with international human rights groups, in our country, there is a milestone that marks a change in urological/medical practice for patients with VSD. In 2015, a report by the International Convention on the Rights of the Child of the United Nations stated that “The State Party (Chile) expedites the development and implementation of a rights-based health-care protocol for intersex children that sets the procedures and steps to be followed by health teams in order to ensure that no one is subjected to unnecessary surgery or treatment during infancy or childhood, protect the rights of the children concerned to physical and mental integrity, autonomy and self-determination, provide intersex children and their families with adequate counseling and support, including from peers, and ensure effective remedy for victims, including redress and compensation”.25 This recommendation generated a wave of reactions, and the Ministry of Health, in hand with human rights groups, has instructed health care providers to stop all irreversible surgical procedures for intersex children.26 However, in this discussion, the medical community and many patients and their families felt marginalized. After an interdisciplinary roundtable was held, this prohibition was amended, and new recommendations for the surgical treatment of children with VSD were set3. As medical professionals, we must recognize that the UN report was very useful in guiding thinking and in trying to optimize the management of children born with VSD in Chile. By focusing on the interdisciplinary management of such cases at specialized centers, by respecting the individuality of each case, and by analyzing the family and social environment before drawing a plan of management, this new approach is widening the management options, avoiding irreversible procedures, and generating greater awareness and acceptance of diversity among Chilean health providers.
A 6-year-old 46 XX female with congenital adrenal hyperplasia presented to the multidisciplinary clinic with Prader 5 virilization on physical exam. She was well controlled on mineralocorticoid therapy. The patient was not aware of her diagnosis, but her parents were very insistent on surgery to “make her look like a girl.”
In Chile, the surgical treatment for patients with congenital adrenal hyperplasia (CAH) is a matter of debate. From the legal framework, neither public nor private medical practitioners are formally prohibited from performing genital surgeries in children with VSD2.27 However, the growing concern of different social actors about performing irreversible genital surgeries in children without their consent implies that the surgical option always requires consent after a detailed explanation of the risks/benefits of the surgery and in agreement with the health team and the family. In Chile, many parents and girls with CAH continue to support early surgery in infancy for the correction of urogenital sinus and clitoral reduction. This opinion is also shared by most pediatric urologists in Chile, who argue that the incidence of gender dysphoria in patients with CAH is low.27 From a social point of view, as Chile is a country that is strongly linked to the Catholic Church and that has a rather conservative profile, the Chilean community is just beginning to open up to diversity. On the other hand, growing immigration, mainly from Haiti and Venezuela, poses new challenges related to the integration of sociocultural differences.
In the proposed clinical scenario, the benefits of postponing the surgery until the patient could consent were discussed in detail with the family. It is likely that after presenting this case to the VSD interdisciplinary team, if the identity of the patient is female and there is good adherence to treatment, the surgical alternative will also be offered.
A 13-year-old female-appearing patient who presented for workup of amenorrhea was found to have a 46 XY karyotype and was diagnosed with complete androgen insensitivity syndrome. Her parents were informed of the diagnosis, and they did not want the provider team to tell the patient about the diagnosis.
This clinical scenario is a challenge that perhaps all clinicians who take care of patients with VSD have faced. From a legal point of view, the Law of Rights and Duties for Medical Care in Chile establishes that “Everyone has the right to be informed, in a timely and understandable manner, by the doctor or other treating professional (…), according to their age and personal and emotional condition”.28 Although the minimum age to consent to medical treatment is not defined, since there may be variations regarding mental and emotional development in children, Chilean law establishes the presumption that adolescents between 14 and 18 years of age have the necessary intellectual and volitional aptitude to give consent by themselves.29 In patients under 14 years of age, such as the one presented in this case, it is recommended to consider the opinion of minors, but from a legal point of view, the child’s opinion is nonbinding. The physician-patient relationship in Chile has evolved from very marked paternalism toward a progressive respect for the patient's autonomy. However, the tendency to hide “high impact” diagnoses persists not only in children but also in the adult population. The social factors mentioned in the previous case are also valid for this clinical scenario, where lack of awareness about VSD in the general population and the low acceptance of diversity plays a predominant role when parents face this diagnosis. However, health providers are conscious of the importance of early disclosure of diagnosis to patients with VSD. For this reason, in the presented case, the recommendation to the family would be to visit the mental health team to help them find tools to facilitate the process. On the other hand, the positive aspects of early disclosure should be emphasized, not only from the legal and ethical framework but also from the experience of patients with VSD who have reached adulthood without knowing their diagnosis. For that reason, a joint plan should be executed, delineating a timetable for the family to gradually tell their daughter about her diagnosis. The medical team must be available at all times, providing emotional support and empowering the patient to learn more about their condition.
- Health & Human Services VD of. Decision-making principles for the care of infants, children and adolescents with intersex conditions. 2013.
- Gillam LH, Hewitt JK, Warne GL. Ethical principles for the management of infants with disorders of sex development. Hormone Research in Paediatrics 2010; 74 (6): 412–418. DOI: 10.1159/000316940.
- Vora KA, Hanna CA, Neville KA, Bergman PB, Grover OC SR, M.A.. Role of cross‐campus multidisciplinary team meetings in decision‐making for children and adolescents with differences of sex development/intersex. Journal of Paediatrics and Child Health 2021. DOI: 10.1111/jpc.15474.
- Lee PA, Houk CP. Commentary to ’Evidence regarding cosmetic and medically unnecessary surgery on infants.’ Journal of Pediatric Urology 2014; 10 (1). DOI: 10.1016/j.jpurol.2013.11.006.
- Vora KA, Srinivasan S. A guide to differences/disorders of sex development/intersex in children and adolescents. Australian Journal of General Practice 2020; 49 (7): 417–422. DOI: 10.31128/ajgp-03-20-5266.
- Kelly F, Smith M. Should court authorisation be required for surgery on intersex children? A critique of the Family Court decision in Re Carla. Australian Journal of Family Law 2017; 31 (2): 118–133.
- Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocrine Reviews 2006; 27 (5): 468–484. DOI: 10.1210/er.2006-0005.
- Hewitt J. Surgery on intersex infants and human rights - Australian Human Rights Commission. 2009.
- Szymanski KM, Whittam B, Kaefer M, Frady H, Casey JT, Tran VT. Parental decisional regret and views about optimal timing of female genital restoration surgery in congenital adrenal hyperplasia. Journal of Pediatric Urology 2018; 14 (2): 1–. DOI: 10.1016/j.jpurol.2017.11.012.
- Creighton SM, Minto CL, Steele SJ. Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood. The Lancet 2001; 358 (9276): 124–125. DOI: 10.1016/s0140-6736(01)05343-0.
- Krege S, Walz K, Hauffa B, Körner I, Rübben H. Long‐term follow‐up of female patients with congenital adrenal hyperplasia from 21‐hydroxylase deficiency, with special emphasis on the results of vaginoplasty. BJU International 2000; 86 (3): 253–258. DOI: 10.1046/j.1464-410x.2000.00789.x.
- Statement D. Joint consensus statement from the intersex community retreat in Darlington. Intersex Trust Aotearoa New Zealand (ITANZ), Organisation Intersex International Australia (OIIAU), et al. 2017.
- Commision AHR. Ensuring health and bodily integrity: towards a human rights approach for people born with variations in sex characteristics. 2021.
- Creighton S, Chernausek SD, Romao R, Ransley P, Salle JP. Timing and nature of reconstructive surgery for disorders of sex development–introduction. Journal of Pediatric Urology 2012; 8 (6): 602–610. DOI: 10.1016/j.jpurol.2012.10.001.
- Lee PA, Houk CP. Key discussions from the working party on disorders of sex development (DSD) evaluation, Foundation Merieux. International Journal of Pediatric Endocrinology 0AD; 2013 (12). DOI: 10.1186/1687-9856-2013-12.
- Physicians RAC of. Standards for the Care of Children and Adolescents in Health Services. 2008. DOI: 10.5694/j.1326-5377.2011.tb04172.x.
- Hudson N, Spriggs M, Gillam L. Telling the truth to young children: Ethical reasons for information disclosure in paediatrics. Journal of Paediatrics and Child Health 2019; 55 (1): 13–17. DOI: 10.1111/jpc.14209.
- Cools M, Looijenga L. Update on the pathophysiology and risk factors for the development of malignant testicular germ cell tumors in complete androgen insensitivity syndrome. Sexual Development 2017; 11 (4): 175–181. DOI: 10.1159/000477921.
- Bailez M, Costanzo M, Guercio G. Role of minimally invasive surgery (MIS) in different sexual development (DSD). Seminars in Pediatric Surgery 2021: 151078. DOI: 10.1016/j.sempedsurg.2021.151078.
- Faure A, Bouty A, O’Brien M, Thorup J, Hutson J, Heloury Y. Testicular biopsy in prepubertal boys: a worthwhile minor surgical procedure? Nature Reviews Urology 2016; 13 (3): 141–150. DOI: 10.1038/nrurol.2015.312.
- Sarpel U, Palmer SK, Dolgin SE. The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. Journal of Pediatric Surgery 2005; 40 (1): 133–137. DOI: 10.1016/j.jpedsurg.2004.09.012.
- Hurme T, Lahdes-Vasama T, Mäkelä E, Iber T, Toppari J. Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. Scandinavian Journal of Urology and Nephrology 2009; 43 (1): 42–46. DOI: 10.1080/00365590802299247.
- McQuillan SK, Grover SR. Dilation and surgical management in vaginal agenesis: a systematic review. International Urogynecology Journal 2014; 25 (3): 299–311. DOI: 10.1007/s00192-013-2221-9.
- Warne GL, Hewitt JK. The medical management of disorders of sex development. Disorders of Sex. Development: Springer; 2012. DOI: 10.1007/978-3-642-22964-0_16.
- Nations U. Convention on the Rights of the Child. Concluding observations on the combined fourth and fifth periodic reports of Chile. Page 2015; 11.
- Salud Chile M de. Orientaciones técnicas para actualizar o elaborar protocolo de trato y registro para personas trans, en el marco de la circular. 2015; 18 (21).
- Salud Chile M. Orientaciones técnicas para actualizar o elaborar protocolo de trato y registro para personas trans, en el marco de la circular N°. 2016; 21.
- León C. FJ. Información y consentimiento informado de menores de edad en Chile. Rev Chil Pediatr 2012; 83 (2): 113–116. DOI: 10.4067/S0370-41062012000200001.
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Last updated: 2023-05-01 08:22