Changes over time in sex assignment for disorders of sex development

Zofia Kolesinska; S Faisal Ahmed; Marek Niedziela; Jillian Bryce; Marta Molinska-Glura; Martina Rodie; Jipu Jiang; Richard O Sinnott; Ieuan A Hughes; Feyza Darendeliler; Olaf Hiort; Yvonne van der Zwan; Martine Cools; Tulay Guran; Paul-Martin Holterhus; Silvano Bertelloni; Lidka Lisa; Wiebke Arlt; Nils Krone; Mona Ellaithi; Antonio Balsamo; Inas Mazen; Anna Nordenstrom; Katherine Lachlan; Mona Alkhawari; Pierre Chatelain; Naomi Weintrob

doi:10.1542/peds.2014-1088

Changes over time in sex assignment for disorders of sex development

Zofia Kolesinska, S Faisal Ahmed, Marek Niedziela, Jillian Bryce, Marta Molinska-Glura, Martina Rodie, Jipu Jiang, Richard O Sinnott, Ieuan A Hughes, Feyza Darendeliler, Olaf Hiort, Yvonne van der Zwan, Martine Cools, Tulay Guran, Paul-Martin Holterhus, Silvano Bertelloni, Lidka Lisa, Wiebke Arlt, Nils Krone, Mona EllaithiAntonio Balsamo, Inas Mazen, Anna Nordenstrom, Katherine Lachlan, Mona Alkhawari, Pierre Chatelain, Naomi Weintrob

Metabolism and Systems Research

Research output: Contribution to journal › Article › peer-review

69 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	e710-5
Journal	Pediatrics
Volume	134
Issue number	3
DOIs	https://doi.org/10.1542/peds.2014-1088
Publication status	Published - Sept 2014

Keywords

Adolescent
Adult
Cohort Studies
Disorders of Sex Development
Female
Follow-Up Studies
Gender Identity
Humans
Male
Registries
Time Factors
Young Adult

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10.1542/peds.2014-1088

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Kolesinska, Z., Ahmed, S. F., Niedziela, M., Bryce, J., Molinska-Glura, M., Rodie, M., Jiang, J., Sinnott, R. O., Hughes, I. A., Darendeliler, F., Hiort, O., van der Zwan, Y., Cools, M., Guran, T., Holterhus, P.-M., Bertelloni, S., Lisa, L., Arlt, W., Krone, N., ... Weintrob, N. (2014). Changes over time in sex assignment for disorders of sex development. Pediatrics, 134(3), e710-5. https://doi.org/10.1542/peds.2014-1088

@article{580f77b4a57a49cda77674388bcdc992,

title = "Changes over time in sex assignment for disorders of sex development",

abstract = "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.",

keywords = "Adolescent, Adult, Cohort Studies, Disorders of Sex Development, Female, Follow-Up Studies, Gender Identity, Humans, Male, Registries, Time Factors, Young Adult",

author = "Zofia Kolesinska and Ahmed, {S Faisal} and Marek Niedziela and Jillian Bryce and Marta Molinska-Glura and Martina Rodie and Jipu Jiang and Sinnott, {Richard O} and Hughes, {Ieuan A} and Feyza Darendeliler and Olaf Hiort and {van der Zwan}, Yvonne and Martine Cools and Tulay Guran and Paul-Martin Holterhus and Silvano Bertelloni and Lidka Lisa and Wiebke Arlt and Nils Krone and Mona Ellaithi and Antonio Balsamo and Inas Mazen and Anna Nordenstrom and Katherine Lachlan and Mona Alkhawari and Pierre Chatelain and Naomi Weintrob",

note = "Copyright {\textcopyright} 2014 by the American Academy of Pediatrics.",

year = "2014",

month = sep,

doi = "10.1542/peds.2014-1088",

language = "English",

volume = "134",

pages = "e710--5",

journal = "Pediatrics",

issn = "0031-4005",

publisher = "American Academy of Pediatrics",

number = "3",

}

Kolesinska, Z, Ahmed, SF, Niedziela, M, Bryce, J, Molinska-Glura, M, Rodie, M, Jiang, J, Sinnott, RO, Hughes, IA, Darendeliler, F, Hiort, O, van der Zwan, Y, Cools, M, Guran, T, Holterhus, P-M, Bertelloni, S, Lisa, L, Arlt, W, Krone, N, Ellaithi, M, Balsamo, A, Mazen, I, Nordenstrom, A, Lachlan, K, Alkhawari, M, Chatelain, P & Weintrob, N 2014, 'Changes over time in sex assignment for disorders of sex development', Pediatrics, vol. 134, no. 3, pp. e710-5. https://doi.org/10.1542/peds.2014-1088

TY - JOUR

T1 - Changes over time in sex assignment for disorders of sex development

AU - Kolesinska, Zofia

AU - Ahmed, S Faisal

AU - Niedziela, Marek

AU - Bryce, Jillian

AU - Molinska-Glura, Marta

AU - Rodie, Martina

AU - Jiang, Jipu

AU - Sinnott, Richard O

AU - Hughes, Ieuan A

AU - Darendeliler, Feyza

AU - Hiort, Olaf

AU - van der Zwan, Yvonne

AU - Cools, Martine

AU - Guran, Tulay

AU - Holterhus, Paul-Martin

AU - Bertelloni, Silvano

AU - Lisa, Lidka

AU - Arlt, Wiebke

AU - Krone, Nils

AU - Ellaithi, Mona

AU - Balsamo, Antonio

AU - Mazen, Inas

AU - Nordenstrom, Anna

AU - Lachlan, Katherine

AU - Alkhawari, Mona

AU - Chatelain, Pierre

AU - Weintrob, Naomi

PY - 2014/9

Y1 - 2014/9

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Cohort Studies

KW - Disorders of Sex Development

KW - Female

KW - Follow-Up Studies

KW - Gender Identity

KW - Humans

KW - Male

KW - Registries

KW - Time Factors

KW - Young Adult

U2 - 10.1542/peds.2014-1088

DO - 10.1542/peds.2014-1088

M3 - Article

C2 - 25092939

SN - 0031-4005

VL - 134

SP - e710-5

JO - Pediatrics

JF - Pediatrics

IS - 3

ER -

Changes over time in sex assignment for disorders of sex development

Abstract

Keywords

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