One hundred years of congenital adrenal hyperplasia in Sweden: A retrospective, population-based cohort study

The Lancet Diabetes and Endocrinology

Volumn 1, Issue 1, 2013, Pages 35-42

  Gidlöf, Sebastian ^a,b   Falhammar, Henrik ^a,b   Thilén, Astrid ^c   von Döbeln, Ulrika ^b   Ritzén, Martin ^a   Wedell, Anna ^a,b   Nordenström, Anna ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c Jonkoping Hospital   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 2A1; CYP21A2 PROTEIN, HUMAN; STEROID 21 MONOOXYGENASE;

ARTICLE; COHORT ANALYSIS; CONGENITAL ADRENAL HYPERPLASIA; DISEASE SEVERITY; FEMALE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SALT WASTING; SEX RATIO; STEROID 21 MONOOXYGENASE DEFICIENCY; SWEDEN; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AGED; CHILD; GENETICS; HEALTH SURVEY; MIDDLE AGED; PRESCHOOL CHILD; PROCEDURES; TIME; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; MALE; MIDDLE AGED; POPULATION SURVEILLANCE; RETROSPECTIVE STUDIES; STEROID 21-HYDROXYLASE; SWEDEN; TIME FACTORS; YOUNG ADULT;

EID: 84882569768     PISSN: 22138587     EISSN: None     Source Type: Journal    
DOI: 10.1016/S2213-8587(13)70007-X     Document Type: Article

References (37)

1. Nimkarn S, Lin-Su K, New MI Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. Pediatr Clin North Am 2011, 58:1281-1300.
2. Trapp CM, Speiser PW, Oberfield SE Congenital adrenal hyperplasia: an update in children. Curr Opin Endocrinol Diabetes Obes 2011, 18:166-170.
3. White PC, Speiser PW Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000, 21:245-291.
4. Bartter FC, Forbes AP, Leaf A Congenital adrenal hyperplasia associated with the adrenogenital syndrome: an attempt to correct its disordered hormonal pattern. J Clin Invest 1950, 29:797.
5. Wilkins L, Lewis RA, Klein R, Rosemberg E The suppression of androgen secretion by cortisone in a case of congenital adrenal hyperplasia. Bull Johns Hopkins Hosp 1950, 86:249-252.
6. Engel FL, Owen JA, Wester TB 9-alpha-Fluorohydrocortisone-induced hypertension in a male infant with adrenogenitalism, and in 6 adults with Addison's disease. J Clin Endocrinol Metab 1957, 17:272-279.
7. Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994, 78:1145-1152.
8. Speiser PW, Dupont J, Zhu D, et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992, 90:584-595.
9. Ehrhardt AA, Epstein R, Money J Fetal androgens and female gender identity in the early-treated adrenogenital syndrome. Johns Hopkins Med J 1968, 122:160-167.
10. Berenbaum SA, Duck SC, Bryk K Behavioral effects of prenatal versus postnatal androgen excess in children with 21-hydroxylase-deficient congenital adrenal hyperplasia. J Clin Endocrinol Metab 2000, 85:727-733.
11. Nordenstrom A, Servin A, Bohlin G, Larsson A, Wedell A Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2002, 87:5119-5124.
12. Pasterski V, Hindmarsh P, Geffner M, Brook C, Brain C, Hines M Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia (CAH). Horm Behav 2007, 52:368-374.
13. Frisen L, Nordenstrom A, Falhammar H, et al. Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metab 2009, 94:3432-3439.
14. Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 2008, 37:85-99.
15. Braga LH, Pippi Salle JL Congenital adrenal hyperplasia: a critical appraisal of the evolution of feminizing genitoplasty and the controversies surrounding gender reassignment. Eur J Pediatr Surg 2009, 19:203-210.
16. Jaaskelainen J, Tiitinen A, Voutilainen R Sexual function and fertility in adult females and males with congenital adrenal hyperplasia. Horm Res 2001, 56:73-80.
17. Johannsen TH, Ripa CP, Mortensen EL, Main KM Quality of life in 70 women with disorders of sex development. Eur J Endocrinol 2006, 155:877-885.
18. Arlt W, Willis DS, Wild SH, et al. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab 2010, 95:5110-5121.
19. Nermoen I, Husebye ES, Svartberg J, Lovas K Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway. Eur J Endocrinol 2010, 163:453-459.
20. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977, 45:1003-1008.
21. Speiser PW, Azziz R, Baskin LS, et al. A summary of the endocrine society clinical practice guidelines on congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Int J Pediatr Endocrinol 2010, 2010:494173.
22. Nordenstrom A, Ahmed S, Jones J, et al. Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res 2005, 63:22-28.
23. Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab 2005, 90:3243-3250.
24. Thil'en A, Nordenstrom A, Hagenfeldt L, von Dobeln U, Guthenberg C, Larsson A Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 1998, 101:E11.
25. Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 2000, 85:1059-1065.
26. Population and population changes 1749-2011 Statistics Sweden, (accessed Dec 23, 2012). http://www.scb.se/Pages/TableAndChart____26047.aspx.
27. Live births by region, sex and age of mother: year 1968-2011 Statistics Sweden, (accessed Dec 23, 2012). http://www.scb.se/Pages/SSD/SSD_SelectVariables____340507.aspx?rxid=1c9e086b-4b7f-4823-a0bd-885120416892&px_tableid=ssd_extern%3aFoddaK.
28. Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet 1977, 2:1309-1312.
29. Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA 1992, 89:7232-7236.
30. Sim SC CYP21A2 allele nomenclature (accessed Dec 23, 2012). http://www.cypalleles.ki.se/cyp21.htm2012.
31. Wedell A Molecular genetics of 21-hydroxylase deficiency. Endocr Dev 2011, 20:80-87.
32. Wilson RC, Mercado AB, Cheng KC, New MI Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 1995, 80:2322-2329.
33. Rosemberg E, Lewis W, Russell E Performance control of preparations which could be used as reference material for the estimation of urinary gonadotropins in the mouse uterine weight method. J Clin Endocrinol Metab 1962, 22:953-958.
34. Nordenstrom A, Frisen L, Falhammar H, et al. Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception. J Clin Endocrinol Metab 2010, 95:3633-3640.
35. Reisch N, Willige M, Kohn D, et al. Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency. Eur J Endocrinol 2012, 167:35-42.
36. Barr ML, Bertram EG A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 1949, 163:676.
37. Lee PA, Houk CP Review of outcome information in 46,XX patients with congenital adrenal hyperplasia assigned/reared male: what does it say about gender assignment. Int J Pediatr Endocrinol 2010, 2010:982025.