Differences/disorders of sex development (DSD) is an umbrella term for a wide variety of congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical (1). DSD are associated with increased incidence of infertility (2–4), gonadal cancer risks (5–8), hypogonadism (9, 10), and with anatomic and cosmetic differences perceived as obstacles to satisfying sexual function (11–14). Individuals with DSD also experience an elevated risk of gender dysphoria (15–18), psychosocial distress (19–21), and pervasive challenges to psychosocial adaptation (22–26). Although heterogeneity in presentation exists (e.g., genotype, phenotype), salient commonalities exist across DSD, including the need to make decisions about care when there is no one “best” answer for all patients and families.
Decision making in pediatric DSD is further complicated by: 1) controversial interventions (e.g., gonadal/genital surgery) that are rarely urgent; 2) decisions are commonly made when the child is too young to be meaningfully involved in the process; 3) there is substantial uncertainty regarding the potential harms and benefits associated with each option – whether performing or withholding; and 4) healthcare providers may have differing opinions about what constitutes appropriate medical care. Also, these decisions are recognized to be highly value sensitive and the available evidence regarding the short- and long-term benefits and risks of options may be limited, unclear, or subject to debate.
Parents are often unaware there are any decisions to be made; instead believing that necessary treatments follow directly from diagnosis (27, 28). Some perceive clinicians as biasing parents’ healthcare decisions on behalf of their child, rather than sharing information about all reasonable options (29–33). Evidence suggests parents receive ambivalent messages about DSD care, for example: while clinicians express caution, they also present genital surgery as beneficial without sharing adequate information about potential harms and alternative options (34). More generally, parents of infants and young children with a DSD may not be meaningfully involved in decision making (35).
Shared decision making (SDM) has been referred to as the “crux of patient-centered care” (36). A healthcare provider implementing SDM: 1) clearly informs their patient that there is a decision to be made; 2) provides the best evidence available on all decision options, including associated benefits and harms; and 3) supports the patient to identify their preferred option by discussing the patient’s preferences for each option outcome (37). When patients are unable to meaningfully participate in decision making because of young age, SDM may occur between providers and parents. Despite the benefits, barriers to SDM implementation persist; this includes both practice (time, poor fit with workflow, and lack of information designed for patient use) and systemic issues (attitudes of the provider/patient-parent and that SDM is not a standard part of care) (38, 39). SDM is broadly endorsed by national and international medical societies and policy makers, yet there is strong evidence of barriers and resistance to its implementation (40, 41). This Research Topic was conducted to add to the literature by providing information about elements of SDM, SDM approaches, and barriers to implementation in pediatric DSD.
In the first article in this Research Topic, Gardner et al. focus on understanding the decision support experiences and outcomes faced by parents of a child with DSD. The most difficult decisions identified related to surgery and disclosure of the child’s condition to others. Many parents worried about making or having made the “wrong” decision. Parents preferred being involved in decision-making, but experienced emotional distress and informational concerns that underscore the need for formalized decisional support.
To understand the nature of surgical decision making in DSD, Weidler et al. conducted qualitative interviews with key stakeholders (adults and teenagers with DSD, parents of children with a DSD, DSD-specialized healthcare providers, and allied professionals). Participants indicated different reasons for pursuing surgery and parental worries over decisional regret was noted as an ongoing challenge. There was consensus regarding patient involvement in decisions when “developmentally appropriate.” Overall, results reinforce the need for increased educational and decision support to facilitate SDM in DSD surgical decisions.
Lightfoot et al. described the development and alpha testing of a suite of four parent-proxy decision aids for DSD: genetic testing, gender of rearing, genital surgery, and gonadal surgery. Development was guided by the Ottawa Decision Support Framework (42) and the International Patient Decision Aids Standards (43).
The mixed methods study by Lapham et al. examined the opinions of North American pediatric urologists and endocrinologists regarding informational elements of informed consent. A majority of participants from both specialties agreed or strongly agreed with adding four statements to informed consent documents for genital surgery in DSD that far exceed the detail commonly seen in such documents.
Finally, Roen et al. engaged healthcare professionals, parents, and young people with DSD in interviews to learn about provider and parent education of the youth about their medical condition. The provocative title “Whose responsibility is it to talk with children and young people …” identifies an important weakness in the healthcare of these patients: who and how effective are those individuals – parents and/or providers – in imparting information to affected youth in a manner that is developmentally meaningful and material to any future decision making. The authors call for a “default plan” to prevent this critical topic from being neglected.
Overall, this Research Topic illustrates a growing trend in DSD toward studies providing balance to the biomedical aspects of clinical management with attention to the decision-making needs and values of individual patients and families in front of us.
Statements
Author contributions
KS-J: Conceptualization, Writing – original draft, Writing – review & editing. RD: Writing – review & editing. AF: Writing – review & editing. DS: Conceptualization, Writing – original draft, Writing – review & editing.
Conflict of interest
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Publisher’s note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.
References
1
LeePAHoukCPAhmedSFHughesIAInternational Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society, the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics (2006) 118(2):e488–500. doi: 10.1542/peds.2006-0738
2
PapadakisJLPoquizJLBuchananCLChanY-MCrerandCEHansen-MooreJet al. Fertility discussions: Perspectives of adolescents and young adults with differences of sex development. Clin Pract Pediatr Psychol (2021) 9(4):372–83. doi: 10.1037/cpp0000373
3
HarrisCJCorkumKSFinlaysonCRowellEELarondaMMReimannMBet al. Establishing an institutional gonadal tissue cryopreservation protocol for patients with differences of sex development. J Urol (2020) 204(5):1054–61. doi: 10.1097/JU.0000000000001128
4
Slowikowska-HilczerJHirschbergALClaahsen-van der GrintenHReischNBouvattierCThyenUet al. Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study. Fertil Steril (2017) 108(5):822–31. doi: 10.1016/j.fertnstert.2017.08.013
5
Slowikowska-HilczerJSzarras-CzapnikMDuranteauLRappMWalczak-JedrzejowskaRMarchlewskaKet al. Risk of gonadal neoplasia in patients with disorders/differences of sex development. Cancer Epidemiol (2020) 69:101800. doi: 10.1016/j.canep.2020.101800
6
Slowikowska-HilczerJSzarras-CzapnikMWolskiJKOszukowskaEHilczerMJakubowskiLet al. The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients. Folia Histochem Cytobiol (2015) 53(3):218–26. doi: 10.5603/FHC.a2015.0021
7
MorinJPeardLVanadurongvanTWalkerJDonmezMISaltzmanAF. Oncologic outcomes of pre-Malignant and invasive germ cell tumors in patients with differences in sex development - A systematic review. J Pediatr Urol (2020) 16(5):576–82. doi: 10.1016/j.jpurol.2020.05.002
8
SpoorJAOosterhuisJWHersmusRBiermannKWolffenbuttelKPCoolsMet al. Histological assessment of gonads in DSD: relevance for clinical management. Sex Dev (2018) 12(1-3):106–22. doi: 10.1159/000481757
9
StancampianoMRLucas-HeraldAKBryceJRussoGBareraGBalsamoAet al. Testosterone therapy and its monitoring in adolescent boys with hypogonadism: results of an international survey from the I-DSD registry. Sex Dev (2021) 15(4):236–43. doi: 10.1159/000516784
10
Lucas-HeraldAKBryceJKyriakouALjubicicMLArltWAudiLet al. Gonadectomy in conditions affecting sex development: a registry-based cohort study. Eur J Endocrinol (2021) 184(6):791–801. doi: 10.1530/EJE-20-1058
11
AlmasriJZaiemFRodriguez-GutierrezRTamhaneSUIqbalAMProkopLJet al. Genital reconstructive surgery in females with congenital adrenal hyperplasia: A systematic review and meta-analysis. J Clin Endocrinol Metab (2018) 103(11):4089–96. doi: 10.1210/jc.2018-01863
12
van de GriftTCRappMHolmdahlGDuranteauLNordenskjoldAdsd-Life Group. Masculinizing surgery in disorders/differences of sex development: clinician- and participant-evaluated appearance and function. BJU Int (2022) 129(3):394–405. doi: 10.1111/bju.15369
13
RappMDuranteauLvan de GriftTCSchoberJHirschbergALKregeSet al. Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE). J Pediatr Urol (2021) 17(3):353–65. doi: 10.1016/j.jpurol.2020.12.007
14
EllerkampVRallKKSchaeferJStefanescuDSchoellerDBruckerSet al. Surgical therapy after failed feminizing genitoplasty in young adults with disorders of sex development: retrospective analysis and review of the literature. J Sex Med (2021) 18(10):1797–806. doi: 10.1016/j.jsxm.2021.07.008
15
BabuRShahU. Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis. J Pediatr Urol (2021) 17(1):39–47. doi: 10.1016/j.jpurol.2020.11.017
16
Meyer-BahlburgHF. Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav (2005) 34(4):423–38. doi: 10.1007/s10508-005-4342-9
17
Cohen-KettenisPT. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav (2005) 34(4):399–410. doi: 10.1007/s10508-005-4339-4
18
DessensABSlijperFMDropSL. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav (2005) 34(4):389–97. doi: 10.1007/s10508-005-4338-5
19
SewellRBuchananCLDavisSChristakisDADempseyAFurnissAet al. Behavioral health diagnoses in youth with difference of sex development or congenital adrenal hyperplasia compared with controls: A PEDSnet study. J Pediatr (2021) 239:175–81.e2. doi: 10.1016/j.jpeds.2021.08.066
20
GodfreyLM. Mental health outcomes among individuals with 46, XY disorders of sex development: A systematic review. J Health Psychol (2021) 26(1):40–59. doi: 10.1177/1359105320909863
21
de VriesALCRoehleRMarshallLFrisenLvan de GriftTCKreukelsBPCet al. Mental health of a large group of adults with disorders of sex development in six European countries. Psychosom Med (2019) 81(7):629–40. doi: 10.1097/PSY.0000000000000718
22
PerezMNClawsonAHBaudinoMNAustinPFBaskinLSChanYMet al. Distress trajectories for parents of children with DSD: A growth mixture model. J Pediatr Psychol (2021) 46(5):588–98. doi: 10.1093/jpepsy/jsab004
23
RobertsCMSharkeyCMBakulaDMPerezMNDelozierAJAustinPFet al. Illness uncertainty longitudinally predicts distress among caregivers of children born with DSD. J Pediatr Psychol (2020) 45(9):1053–62. doi: 10.1093/jpepsy/jsaa069
24
de Souza OliveiraMde Paiva-e-SilvaRBGuerra-JuniorGMaciel-GuerraAT. Parents’ experiences of having a baby with ambiguous genitalia. J Pediatr Endocrinol Metab (2015) 28(7-8):833–8. doi: 10.1515/jpem-2014-0457
25
ZieselmanK. Invisible harm. Narrative Inq bioethics (2015) 5(2):122–5. doi: 10.1353/nib.2015.0056
26
BaratzAKarkazisK. Cris de coeur and the moral imperative to listen to and learn from intersex people. Narrative Inq bioethics (2015) 5(2):127–32. doi: 10.1353/nib.2015.0030
27
Tamar-MattisA. Giving pediatric patients a voice in treatment of DSD. Endocrine Today (2010). Available at: https://www.healio.com/news/endocrinology/20120325/giving-pediatric-patients-a-voice-in-treatment-of-dsd.
28
FederEKDregerATamar-MattisA. More rhetoric than argument? Hastings Cent Rep (2013) 43(2):4–6. doi: 10.1002/hast.148
29
Tamar-MattisABaratzABaratz DalkeKKarkazisK. Emotionally and cognitively informed consent for clinical care for differences of sex development. Psychol Sex (2013) 5(1):44–55. doi: 10.1080/19419899.2013.831215
30
ReisE. Did bioethics matter? A history of autonomy, consent, and intersex genital surgery. Med Law Rev (2019) 27(4):658–74. doi: 10.1093/medlaw/fwz007
31
CrissmanHPWarnerLGardnerMCarrMSchastAQuittnerALet al. Children with disorders of sex development: A qualitative study of early parental experience. Int J Pediatr Endocrinol (2011) 2011(1):10. doi: 10.1186/1687-9856-2011-10
32
BoyseKLGardnerMMarvicsinDJSandbergDE. “It was an overwhelming thing”: parents’ needs after infant diagnosis with congenital adrenal hyperplasia. J Pediatr Nurs (2014) 29(5):436–41. doi: 10.1016/j.pedn.2014.01.007
33
LiaoL-M. Variations in Sex Development: Medicine, Culture and Psychological Practice. Cambridge: Cambridge University Press (2023).
34
TimmermansSYangAGardnerMKeeganCEYasharBMFechnerPYet al. Does patient-centered care change genital surgery decisions? The strategic use of clinical uncertainty in disorders of sex development clinics. J Health Soc Behav (2018) 59(4):520–35. doi: 10.1177/0022146518802460
35
SandbergDEGardnerMKopecKUrbanskiMCallensNKeeganCEet al. Development of a decision support tool in pediatric Differences/Disorders of Sex Development. Semin Pediatr Surg (2019) 28(5):150838. doi: 10.1016/j.sempedsurg.2019.150838
36
WestonWW. Informed and shared decision-making: the crux of patient-centred care. Can Med Assoc J (2001) 165(4):438–9.
37
LégaréFWittemanHO. Shared decision making: examining key elements and barriers to adoption into routine clinical practice. Health Aff (Millwood) (2013) 32(2):276–84. doi: 10.1377/hlthaff.2012.1078
38
ElwynGDurandMASongJAartsJBarrPJBergerZet al. A three-talk model for shared decision making: multistage consultation process. BMJ (2017) 359:j4891. doi: 10.1136/bmj.j4891
39
Joseph-WilliamsNLloydAEdwardsAStobbartLTomsonDMacphailSet al. Implementing shared decision making in the NHS: lessons from the MAGIC programme. BMJ (2017) 357:j1744. doi: 10.1136/bmj.j1744
40
LipsteinEADoddsCMBrittoMT. Real life clinic visits do not match the ideals of shared decision making. J Pediatr (2014) 165(1):178–83.e1. doi: 10.1016/j.jpeds.2014.03.042
41
ElwynGRixAHoltTJonesD. Why do clinicians not refer patients to online decision support tools? Interviews with front line clinics in the NHS. BMJ Open (2012) 2(6):1–6. doi: 10.1136/bmjopen-2012-001530
42
StaceyDLégaréFBolandLLewisKBLoiselleMCHoefelLet al. 20th anniversary Ottawa decision support framework: part 3 overview of systematic reviews and updated framework. Med decision making: an Int J Soc Med Decision Making (2020) 40(3):379–98. doi: 10.1177/0272989X20911870
43
WittemanHOMakiKGVaissonGFinderupJLewisKBDahl SteffensenKet al. Systematic development of patient decision aids: an update from the IPDAS collaboration. Med Decision Making (2021) 41(7):736–54. doi: 10.1177/0272989X211014163
Summary
Keywords
shared decision making, decision making, differences of sex development, disorders of sex development, intersex, education
Citation
Suorsa-Johnson K, Delaney RK, Fagerlin A and Sandberg DE (2023) Editorial: Shared decision making in pediatric differences/disorders of sex development. Front. Urol. 3:1281181. doi: 10.3389/fruro.2023.1281181
Received
22 August 2023
Accepted
29 August 2023
Published
08 September 2023
Volume
3 - 2023
Edited and reviewed by
Kiarash Taghavi, Monash Children’s Hospital, Australia
Updates
Copyright
© 2023 Suorsa-Johnson, Delaney, Fagerlin and Sandberg.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Kristina Suorsa-Johnson, kristina.suorsa-johnson@hsc.utah.edu
Disclaimer
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.