Morbidity, Mortality, and Socioeconomics in Females With 46,XY Disorders of Sex Development: A Nationwide Study

TY - JOUR

T1 - Morbidity, Mortality, and Socioeconomics in Females With 46,XY Disorders of Sex Development

T2 - A Nationwide Study

AU - Berglund, Agnethe

AU - Johannsen, Trine H

AU - Stochholm, Kirstine

AU - Viuff, Mette H

AU - Fedder, Jens

AU - Main, Katharina M

AU - Gravholt, Claus H

PY - 2018/4/1

Y1 - 2018/4/1

N2 - Context: Little is known about long-term health outcomes in phenotypic females with 46,XY disorders of sex development (XY females), and the socioeconomic profile has not been described in detail.Objective: To describe morbidity, mortality, and socioeconomic status in XY females in a comparison to the general population.Design: Nationwide registry study with complete follow-up.Setting: Uniform public health care system.Participants: A total of 123 XY females karyotyped in Denmark during 1960 to 2012 and a randomly selected age-matched control cohort of 12,300 females and 12,300 males from the general population.Main Outcome Measures: Overall mortality and morbidity as well as cause-specific morbidity; medicine use and socioeconomics (education, income, cohabitation, motherhood, and retirement).Results: Compared with female controls, overall morbidity was increased in XY females [hazard ratio (HR), 1.72; 95% confidence interval (CI), 1.43 to 2.08] but not when excluding diagnoses associated with the specific disorder of sex development (DSD) diagnosis or pregnancy and birth (HR, 1.13; CI, 0.93 to 1.37). Mortality was similar to controls (HR, 0.79; CI, 0.35 to 1.77). Cohabitation (HR, 0.44; CI, 0.33 to 0.58) and motherhood (HR, 0.10; CI, 0.05 to 0.18) were reduced in XY females but education (HR, 0.92; CI, 0.61 to 1.37) was similar to controls. Income was higher than among controls in the older years.Conclusions: Morbidity was not increased in XY females when excluding diagnoses associated to the DSD condition per se. Judged on education and income, XY females perform well in the labor market. However, DSD seems to impact on the prospects of family life.

AB - Context: Little is known about long-term health outcomes in phenotypic females with 46,XY disorders of sex development (XY females), and the socioeconomic profile has not been described in detail.Objective: To describe morbidity, mortality, and socioeconomic status in XY females in a comparison to the general population.Design: Nationwide registry study with complete follow-up.Setting: Uniform public health care system.Participants: A total of 123 XY females karyotyped in Denmark during 1960 to 2012 and a randomly selected age-matched control cohort of 12,300 females and 12,300 males from the general population.Main Outcome Measures: Overall mortality and morbidity as well as cause-specific morbidity; medicine use and socioeconomics (education, income, cohabitation, motherhood, and retirement).Results: Compared with female controls, overall morbidity was increased in XY females [hazard ratio (HR), 1.72; 95% confidence interval (CI), 1.43 to 2.08] but not when excluding diagnoses associated with the specific disorder of sex development (DSD) diagnosis or pregnancy and birth (HR, 1.13; CI, 0.93 to 1.37). Mortality was similar to controls (HR, 0.79; CI, 0.35 to 1.77). Cohabitation (HR, 0.44; CI, 0.33 to 0.58) and motherhood (HR, 0.10; CI, 0.05 to 0.18) were reduced in XY females but education (HR, 0.92; CI, 0.61 to 1.37) was similar to controls. Income was higher than among controls in the older years.Conclusions: Morbidity was not increased in XY females when excluding diagnoses associated to the DSD condition per se. Judged on education and income, XY females perform well in the labor market. However, DSD seems to impact on the prospects of family life.

KW - Adolescent

KW - Adult

KW - Case-Control Studies

KW - Castration/methods

KW - Child

KW - Child, Preschool

KW - Denmark/epidemiology

KW - Female

KW - Gonadal Dysgenesis, 46,XY/drug therapy

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Morbidity

KW - Neoplasms/epidemiology

KW - Retirement

KW - Socioeconomic Factors

KW - Young Adult

U2 - 10.1210/jc.2017-01888

DO - 10.1210/jc.2017-01888

M3 - Journal article

C2 - 29165629

SN - 0021-972X

VL - 103

SP - 1418

EP - 1428

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 4

ER -