Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence

被引:12
作者
de Miranda, Mirela Costa [1 ]
de Paiva Haddad, Luciana Bertocco [2 ]
Madureira, Guiomar [1 ]
de Mendonca, Berenice Bilharinho [1 ]
Bachega, Tania A. S. S. [1 ]
机构
[1] Univ Sao Paulo, Dev Endocrinol Unit, Lab Hormonios & Genet Mol LIM42, Fac Med,Hosp Clin, BR-05403900 Sao Paulo, Brazil
[2] Univ Sao Paulo, Dept Gastroenterol, Liver & Gastrointestinal Transplant Div, Hosp Clin,Fac Med, BR-05403000 Sao Paulo, Brazil
关键词
congenital adrenal hyperplasia; economic evaluation; newborn screening; delayed diagnosis; high morbi-mortality; 21-HYDROXYLASE DEFICIENCY; CLINICAL-DIAGNOSIS; COST-EFFECTIVENESS; CHILDREN; BIRTH; CHALLENGES; PROGRAM; HEIGHT; SWEDEN; STATE;
D O I
10.1210/jendso/bvz013
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective: To establish short- and long-term adverse outcome frequencies related to a late diagnosis of congenital adrenal hyperplasia (CAH) in the absence of newborn screening (NBS) and to determine respective treatment costs, which have never been reported. Design: A retrospective analysis of a CAH cohort diagnosed without NBS. Methods: We evaluated medical record data concerning 195 patients (141 females) diagnosed with CAH through clinical suspicion and confirmed using hormonal and CYP21A2 analysis, who were followed from 1980 to 2016 at Sao Paulo University. We measured mortality, dehydration, mental impairment frequencies, and hospitalization length outcomes in the salt-wasting form; the frequency of genetic females raised as males in both forms, frequency of depot GnRh analog (GnRha) and GH therapies in the simple virilizing form, and related outcome costs were calculated. Results: Mortality rates and associated costs, varying from 10% to 26% and from $2,239,744.76 to $10,271,591.25, respectively, were calculated using the Brazilian yearly live-births rate, estimated productive life years, and gross domestic product. In the salt-wasting form, 76% of patients were hospitalized, 8.6% were mentally impaired, and 3% of females were raised as males (total cost, $86,230/salt-wasting patient). GnRha and growth hormone were used for 28% and 14% of simple virilizing patients, respectively, and 18% of females were raised as males (preventable cost, $4232.74/simple virilizing patient). Conclusions: A late CAH diagnosis leads to high mortality and morbidity rates, notably increasing public health costs, and may result in physical and psychological damage that is not easily measurable. (C) Endocrine Society 2019.
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页数:13
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共 51 条
  • [1] Disorders of sex development: effect of molecular diagnostics
    Achermann, John C.
    Domenice, Sorahia
    Bachega, Tania A. S. S.
    Nishi, Mirian Y.
    Mendonca, Berenice B.
    [J]. NATURE REVIEWS ENDOCRINOLOGY, 2015, 11 (08) : 478 - 488
  • [2] Balsamo A, 1996, PEDIATRICS, V98, P362
  • [3] Brosnan CA, 1998, PUBLIC HEALTH REP, V113, P170
  • [4] Analyzing the cost of neonatal screening for congenital adrenal hyperplasia
    Brosnan, CA
    Brosnan, PG
    Swint, JM
    [J]. PEDIATRICS, 2001, 107 (05) : 1238 - 1239
  • [5] Brunelli VL, 2003, J PEDIATR ENDOCR MET, V16, P277
  • [6] Comprehensive cost-utility analysis of newborn screening strategies
    Carroll, AE
    Downs, SM
    [J]. PEDIATRICS, 2006, 117 (05) : S287 - S295
  • [7] Centers for Disease Control and Prevention (CDC), 2004, MMWR Morb Mortal Wkly Rep, V53, P57
  • [8] Corradetti C, 2015, THEORIZING TRANSITIONAL JUSTICE, P1
  • [9] Efficiency of Neonatal Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency in Children Born in Mainland France Between 1996 and 2003
    Coulm, Benedicte
    Coste, Joel
    Tardy, Veronique
    Ecosse, Emmanuel
    Roussey, Michel
    Morel, Yves
    Carel, Jean-Claude
    [J]. ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE, 2012, 166 (02): : 113 - 120
  • [10] Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction
    de Carvalho, Daniel F.
    Miranda, Mirela C.
    Gomes, Larissa G.
    Madureira, Guiomar
    Marcondes, Jose A. M.
    Billerbeck, Ana Elisa C.
    Rodrigues, Andresa S.
    Presti, Paula F.
    Kuperman, Hilton
    Damiani, Durval
    Mendonca, Berenice B.
    Bachega, Tania A. S. S.
    [J]. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2016, 175 (02) : 107 - 116