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BACKGROUND:
Children and young adults with differences/disorders of sex development (DSD) face challenges related to future fertility due to abnormal gonadal development and gonadectomy performed due to risk of malignancy. Fertility-related decision-making for patients with DSD is particularly complicated due to the need for parental proxy decision-making, potential discordance between gender identity and gonadal type, and uncertain future assisted reproductive technologies. Our preliminary work identified a DSD-focused decision aid about fertility (DAAF) as a priority for clinical tool development. The present study aimed to assess: (1) attitudes of parents of children/young adults with DSD regarding future fertility and (2) healthcare needs for fertility-related decision-making, to inform DAAF development.
METHODS:
Semi-structured qualitative interviews about future fertility were conducted with parents of children/young adults with DSD. Parents who had never previously discussed fertility with a healthcare provider were excluded. Interview domains included: (1) “Medical Care and Decision-Making” (2) “Attitudes about Fertility/Infertility” and (3) “Clinical Tools - What is Needed?”. Transcripts were iteratively analyzed using grounded theory involving the constant comparative approach in which emergent themes and patterns were inductively identified. Demographics and clinical characteristics were assessed via survey and medical chart review.
RESULTS:
Nine parents were interviewed (participation rate: 100% of families, 7 mothers/2 fathers, median patient age at diagnosis 1 month [range 0-72], 5 DSD diagnoses). Full demographics are presented in Table 1. Multiple salient themes emerged: (1) Fertility as an initial concern at diagnosis, (2) Importance of biological offspring, (3) Many ways to build a family, (4) Uncertainty about future fertility, (5) False hope for future biological children, and (6) Concerns about proxy decision-making. One parent expressing concern about their child’s future fertility at diagnosis explained, “My biggest concern [then] and it is still a concern to this day is will my son be able to reproduce?“ A parent concerned about giving their child false hope about having biological offspring disclosed, “I wouldn’t even want to talk to my kids about something that’s not even an option⋯why would I try and get their hopes up?” Parents indicated that development of a DAAF could provide (1) a tool to review information at home, (2) “include research, numbers and facts in lay language,” and (3) facilitate step-by-step decision-making. Patient testimonials emerged as an important potential component of the DAAF, particularly for parents who were not interested in support groups.
CONCLUSIONS:
Future fertility is a key concern for parents of children/young adults with DSD, both immediately after diagnosis and throughout development. Parents expressed concern about false hope related to future fertility, yet many also identified biological fertility potential as an important possibility for their children. Parents expressed multiple priorities and preferences related to making difficult fertility-related medical decisions for their children. Our findings support the need for a DAAF for DSD patients and families; parent priorities and preferences identified in this study will be incorporated into the DAAF.

Table 1. Participant Demographics

N=9 (7 individual families)	N/Median	%/Range
Gender of Parent Male Female	2 7	22 78
Race of parent White Black Other Unknown	4 2 2 1	44 22 22 11
Ethnicity of parent Hispanic/Latino Not Hispanic/ Latino Unknown	4 4 1	44 44 11
Child’s diagnosis CAH CAIS Turner mosaic 46XY DSD, unspecified Other unknown diagnosis	3 1 2 2 1	33 11 22 22 11
Child's age at diagnosis (months)	1	0-72
Childs current age (years)	7	1-22
Child's gender Male Female	4 5	44 56
Child's gonadal status Previous gonadectomy Child has at least one gonad	2 7	22 78