Review Article
Individualized care for patients with intersex (disorders/differences of sex development): Part 3

https://doi.org/10.1016/j.jpurol.2020.06.004Get rights and content

Summary

The focus of this article is to review the complex determinants of gender assignment in a child with a disorder of sex development using four different clinical cases. While the care of patients with DSD may be shared across several specialties and opinions regarding their management may vary, this may be further complicated by psychosocial, cultural and economic factors. In this regard, access to behavioral health specialists with experience and specialization in the treatment of patients with DSD should be a foundational component of the standard of care and can greatly assist in the complex decision-making regarding gender assignment. We recommend an individualized approach by a multidisciplinary team utilizing a range of evolving strategies, including outcome data (or lack thereof) to support families during the decision-making process.

Introduction

One of the primary goals in the care of infants born with Disorders/Differences of Sex Development (DSD) is to provide multifaceted care sufficient to lead to health, healthy gender identity and body image resulting in a well-adjusted adult quality of life. With recent advances in the accurate genetic diagnosis of DSDs as well as the recommendation to follow a multi-disciplinary approach to the care of these individuals and their families, many controversies have surfaced regarding the ideal management strategies. Psychologists, surgeons, endocrinologists, and advocates for individuals with DSD have been involved in providing medical, surgical and psychological care both at initial presentation (generally shortly after birth) and during subsequent care. While this is considered ideal, it has also led to recognition of many differences of opinion in how to treat these patients [1].

Two of the biggest concerns for parents and health professionals addressed in this manuscript are: 1) decisions on whether to assign and rear as female or male gender in instances in which such assignment is unclear; and 2) decisions related to whether or not surgery is indicated and if so, when, (to be discussed in a subsequent article). These decisions, which can be overwhelming to families, are virtually always made in the face of uncertainties. The process of decision making is also complicated by numerous and various social, cultural and political (financial support of health care expenses) factors. Stress concerning finances is commonly cited by parents. A third concern that will be addressed in the subsequent manuscript involves the type of and timing of surgery, including the importance of refraining from any irreversible procedures unless indicated for medical/psychological or malignancy risk reasons. Other decisions include whether or not to treat those assigned male with androgen stimulation or with GnRHa to temporarily stop progression of puberty. Behavioral health specialists with experience and specialization in the treatment of patients with DSD provide this service as part of the multidisciplinary group; however, many centers may not have access to such behavioral specialists [[2], [3], [4]].

The focus of this article is regarding the decision of assigning male or female gender for an individual with DSD and the timing for doing so. Recommendations from a consensus conference in 2005 [5] were clear-cut only for assignment of female for individuals with Complete Androgen Insensitivity Syndrome (cAIS) and 46, XY LH receptor deficiency. Because of the rarity of many DSD conditions, there are limited outcome data and recommendations for most patients remain unclear [[6], [7], [8], [9]].

This article focuses on decisions made during infancy and early childhood. With increasing age and maturity, the patient has a progressive role in providing input and assent for treatment. By the end of adolescence the patient should be able to assume full responsibility in most cases.

Outcome data regarding gender identity development among DSD etiologic categories are often reported as percentages and frequently without assessment of the multiple factors that may impact gender development [10,11]. For example, 1) among those patients with 46 XX and CAH, 11% assigned female at birth do not develop female gender identity [12]. 2) In 46, XY DSDs, male assignment has been the primary recommendation for patients with 5α-reductase deficiency and 17β HSD3 deficiency although only slightly more than half assigned male at birth later identify as male [5]. Such data emphasizes the uncertainties when educating and counselling families.

In this article, we review and discuss specific clinical scenarios (see BOX 1) that highlight the biomedical, psychological and social complexities of DSD management and illustrate the need for individualizing the care of each patient rather than simply applying an algorithm for a given diagnosis. We provide a perspective regarding management and, rather than a guideline based on inadequate data, our approach considers the unique factors of each individual and family and is expressed as collective expert opinions concerning management based on currently available outcome studies and the experience of the authors.

The initial article in this series focused on general principles of an individualized approach to those with DSDs [13]. The second article (Ernst MM.; published in this issue) reviews concisely current information regarding gender identity development in DSD. This article focuses on gender assignment based upon unique combinations of anatomic, physiologic, molecular, genetic and social/familial determinants of individuals with four etiologic diagnoses and their familial support network. Of note, the first case involves a child and family living in Bangladesh; all other cases are from families living in the United States.

Section snippets

Discussion

There are several unique factors in these cases that inform regarding gender assignment.

In the first example, the child's age is a consideration. There is a general consensus that it is inappropriate to consider reassignment of gender of rearing from the gender assigned at birth after age 18–24 months of age for any individual except in instances in which there is clear evidence that gender dysphoria has developed [25]. This position resulted from the evidence that gender identity is developed

Funding

None.

Conflict of interest

None.

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