Ethics for the Pediatician: Disorders of Sex Development: Optimizing Care

Karkazis, Katrina; Rossi, Wilma C.

doi:10.1542/pir.31-11-e82

Cited by 46 publications

(12 citation statements)

References 5 publications

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“…With some variations, guidance from clinicians and ethicists has focused on principles and processes aimed at fostering the overall well-being of the child and future adult by: (1) minimizing physical and psychosocial risk; (2) preserving potential for fertility; (3) upholding the individual's rights to participate in decisions that will affect their now or later; (4) leaving options open for the future by avoiding irreversible treatments that are not medically necessary until the individual has the capacity to consent; (5) providing psychosocial support and PS; (6) supporting the individual's healthy sexual and gender identity development; (7) using a shared decision-making approach that respects the individual's and parents' wishes and beliefs; (8) respecting the family and parent-child relationships, and (9) providing patients with full medical information appropriate for age, developmental stage and cognitive abilities [103,104,105]. While each of these principles is important, striking the appropriate balance among them becomes challenging in the clinical setting.…”

Section: Ethical Legal and Cultural Issuesmentioning

confidence: 99%

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

et al. 2016

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The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.

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Section: Ethical Legal and Cultural Issuesmentioning

confidence: 99%

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

et al. 2016

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“…Parents and clinicians must weigh the importance of deferring surgery until the affected individual is older, against irreversible surgery at a younger age which may or may not alter the child’s adjustment or parental distress [4,5]. However, in patients with 17βHSD-3 deficiency, waiting may not be optimal as a child raised as female will undergo virilization at puberty if the testes are retained, which will lead to its own set of medical and psychosocial implications.…”

Section: Introductionmentioning

confidence: 99%

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

Chuang

Vallerie

Breech

et al. 2013

Int J Pediatr Endocrinol

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Background17β-Hydroxysteroid dehydrogenase type-3 (17βHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. The enzyme converts androstenedione to testosterone, necessary for masculinization of male genitalia in utero. 17βHSD-3 deficiency is frequently diagnosed late, at puberty, following virilization, with consequent female-to-male gender reassignment in 39-64%. The decision for sex of rearing is difficult, especially if diagnosed in early childhood. Consensus guidelines are equivocal or support male gender assignment. Long-term outcomes data to guide decisions are also lacking; however, in the few cases of early diagnosis and orchiectomy, female gender retention appears more likely.We report two patients with 17βHSD-3 deficiency, who presented at unusual ages, in whom female gender was chosen. We performed a focused literature review and summary of gender outcomes in 17βHSD-3 deficiency following early orchiectomy.CasesPatient A was a phenotypic female who presented at one year of age with bilateral inguinal hernias and external female genitalia. Testes were identified at surgery. The karyotype was 46,XY. She was initially diagnosed with complete androgen insensitivity syndrome; however, androgen receptor mutation analysis was negative. Human chorionic gonadotropin stimulation yielded a low testosterone: androstenedione ratio (0.6, normal >0.8). Genetic testing demonstrated compound heterozygosity for two known mutations of the HSD17B3 gene. She underwent bilateral orchiectomy at two years of age.Patient B was born with female genitalia and virilized at 13 years of age. She did not seek evaluation until 22 years of age. Her karyotype was 46,XY. She had bilateral inguinal testes and low testosterone: androstenedione ratio (0.3). HSD17B3 gene sequencing showed her to be a compound heterozygote for two known mutations. She identified herself as female and underwent bilateral orchiectomy and estrogen replacement therapy.ConclusionsThese two patients highlight the complexities of diagnosis and management in 17βHSD-3 deficiency. Although existing data are limited, early orchiectomy is likely to result in retention of female gender identity, avoiding the complications related to virilization in adolescence. As such, it is important to pursue a definitive diagnosis to guide clinical decisions, and to have the support and long term follow up with an inter-disciplinary disorders of sex development team.

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“…It is imperative that the parents or guardians feel vested in the dialogue. This approach to complex or difficult health care decisions, called "Shared Decision-Making", helps the family feel more invested in the process, and leads to increased satisfaction (37,38). Note that the child should ideally be informed and involved in the process as well, and information should be provided in an age-appropriate manner with eventual full disclosure to the child.…”

Section: Transparency and Disclosurementioning

confidence: 99%

“…In some cases, for example, waiting until adolescence can allow for spontaneous puberty to occur and avoid the need for pubertal induction hormone therapy. Importantly though, there may be future ethical or medicolegal implications, since it can be viewed as a sterilization procedure (21,37,38,40,41).…”

Section: Gonadectomymentioning

confidence: 99%

Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia

Indyk

2017

Transl. Pediatr

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The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. A timely approach must be sensitive and attend to the psychosocial needs of the family. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients with disorders of sex development (DSDs). One great challenge is assigning a sex of rearing, which must take into account a variety of factors including the clinical, biochemical and radiologic clues as to the etiology of the atypical genitalia (AG). However, other important aspects cannot be overlooked, and these include parental and cultural views, as well as the future outlook in terms of surgery and fertility potential. Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. The multiple facets of this approach are outlined in this review.

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Ethics for the Pediatician: Disorders of Sex Development: Optimizing Care

Cited by 46 publications

References 5 publications

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia

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