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Changes over time in sex assignment for disorders of sex development
Zofia Kolesinska1, S Faisal Ahmed2, Marek Niedziela1
1Poznan University of Medical Sciences, Poznan, Poland;
Insights
The likelihood of infants with disorders of sex development being raised as boys has significantly increased over time. This trend suggests a shift in sex assignment practices for these conditions.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Reproductive Health
Background:
- Disorders of Sex Development (DSD) encompass a range of conditions affecting sexual development.
- Sex assignment is a critical decision for infants with DSD.
- Temporal trends in sex assignment practices for DSD are not well-established.
Purpose of the Study:
- To investigate temporal trends in sex assignment for infants with specific Disorders of Sex Development.
- To analyze changes in the proportion of infants raised as male or female over time.
Main Methods:
- Retrospective analysis of cases from the International Disorder of Sex Development (I-DSD) Registry.
- Categorization of DSD types including partial androgen insensitivity syndrome (PAIS), disorder of gonadal development (DGD), and disorder of androgen synthesis (DAS).
- Division of cases into birth cohorts: before 1990, 1990-1999, and after 1999. Assessment of external genitalia appearance using the external masculinization score.
Main Results:
- Infants assigned male had significantly higher external masculinization scores than those assigned female across all DSD types and cohorts.
- The proportion of infants raised as boys increased significantly over time: 35% before 1990, 41% from 1990-1999, and 68% after 1999.
- A clear temporal trend shows an increasing likelihood of male sex assignment for infants with DSD.
Conclusions:
- While external genitalia appearance is associated with sex assignment, practices have shifted towards assigning male sex more frequently.
- This observed change in sex assignment practices for DSD warrants further investigation into its long-term health implications.
- Future research should focus on the impact of evolving sex assignment trends on the health outcomes of individuals with DSD.
Background And Objective:
It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied.
Methods:
Cases of disorders of sex development reported as partial androgen insensitivity syndrome (PAIS; n = 118), disorder of gonadal development (DGD; n = 232), and disorder of androgen synthesis (DAS; n = 104) were divided into those who were born before 1990, 1990-1999, and after 1999. External appearance of the genitalia was described by the external masculinization score.
Results:
The median (5th-95th percentile) external masculinization scores of those infants with PAIS, DGD, and DAS who were raised as boys were 6 (2-9), 6 (3-9), and 6 (1-12), respectively, and were significantly higher than in those raised as girls (2 [0-6], 2 [0-7], and 0 [0-5], respectively); this difference was maintained in the 3 temporal birth cohorts (P < .01). Of the 118 cases in the pre-1990 cohort, 41 (35%) were raised as boys; of the 148 cases in the 1990-1999 cohort, 60 (41%) were raised as boys; and of the 188 cases in the post-1999 cohort, 128 (68%) were raised as boys.
Conclusions:
Although there is an association between the external appearance of the genitalia and the choice of sex assignment, there are clear temporal trends in this practice pointing toward an increased likelihood of affected infants being raised as boys. The impact of this change in practice on long-term health outcomes requires additional focus.
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