Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Human Reproduction

Volumn 23, Issue 7, 2008, Pages 1607-1613

  Hagenfeldt, K ^a   Janson, P O ^b   Holmdahl, G ^b   Falhammar, H ^a,c   Filipsson, H ^b   Frisen L ^d   Thoren M ^a,c   Nordenskjold A ^a,c  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c KAROLINSKA INSTITUTE   (Sweden)

^d DANDERYD HOSPITAL   (Sweden)

Author keywords

21 hydroxylase mutation; Congenital adrenal hyperplasia; Gestational diabetes; Pregnancy; Sex ratio

Indexed keywords

STEROID 21 MONOOXYGENASE;

ADULT; ARTICLE; BIRTH WEIGHT; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DELIVERY; FEMALE; FERTILITY; GENE MUTATION; GENOTYPE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MENOPAUSE; MORBIDITY; PREGNANCY DIABETES MELLITUS; PREGNANCY OUTCOME; PREGNANCY RATE; SOCIAL EVOLUTION; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 44949237960     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/den118     Document Type: Article

References (23)

1. Amadori P. Reduced need of glucocorticoid therapy in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency during pregnancy. J Endocrinol Invest 2006;29:848-850.
2. Bachelot A, Plu-Burreau G, Thibaud E, Laborde K, Pinto G, Samara D, Nihoul-Fekete C, Kuttenn F, Polak M, Touraine P. Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2006;67:268-276.
3. Dumic M, Janjanin N, Ille J, Zunec R, Spehar A, Zlopasa G, Francetic I, New MI. Pregnancy outcome in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Pediatr Endocrinol Metab 2005;18:887-895.
4. Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjöld A, Hagenfeldt K, Thorén M. Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21- hydroxylase deficiency. J Clin Endocrinol Metab 2007a;92:110-116.
5. Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjöld A, Hagenfeldt K, Thorén M. Fractures and bone density in adult women with 21-hydroxylase deficience. J Clin Endocrinol Metab 2007b;92:4643- 4649.
6. Falhammar H, Thorén M, Hagenfeldt K. A 31-year old woman with infertility and polycystic ovaries was diagnosed with non-classical adrenal hyperplasia due to a novel mutation in the CYP21 gene. J Endocrinol Invest 2008;31:176-180.
7. Garner P. Congenital adrenal hyperplasia in pregnancy. Semin Perinatol 1998;22:446-456.
8. Gastaud F, Bouvattier C, Duranteau L, Brauner R, Thibaud E, Kutten F, Bougneres P. Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab 2007;92:1391-1396.
9. Hoepffner W, Schulze E, Bennek J, Keller E, Willgerodt H. Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity. Fertil Steril 2004;81:1314- 1321.
10. Jääskeläinen J, Hippeläinen M, Kiekara O, Voutilainen R. Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency. Acta Obstet Gynecol Scand 2000;79:687-692.
11. Krone N, Wachter I, Stefanidou M, Rosher AA, Schwarz HP. Mothers with congenital adrenal hyperplasia and their children: outcome of pregnancy, birth and childhood. Clin Endocrinol 2001;55:523-529.
12. Lo JC, Grumbach MM. Pregnancy outcome in women with congenital virilizing adrenal hyperplasia. Endocrinol Metab Clin North Am 2001;30:207- 229.
13. Lo JC, Schwitzgebel VM, Blake Tyrell J, Fitzgerald PA, Kaplan SL, Conte FA, Grumbach MM. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydoxylase deficiency. J Clin Endocrinol Metab 1999;84:930-936.
14. LWPES/ESPE. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Paediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 2002;87:4048- 4053.
15. Medical Birth Registry of Sweden. www.socialstyrelsen.se/statistics.
16. Meyer-Bahlburg HFL. What causes low rate of child-bearing in congenital adrenal hyperplasia? J Clin Endocrinol Metab 1999;84:1844-1847.
17. Mulaikal RM, Migeon CJ, Rock JA. Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1987;316:178-182.
18. Nordenskjöld A, Holmdahl G, Frisén L, Falhammar H, Filipsson H, Thorén M, Janson PO, Hagenfeldt K. Type of mutation and surgical procedure affect long term quality of life in women with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2008;93:380-386.
19. Otten BJ, Stikkelbroeck MML, Claahsen-van der Grinten HL, Hermus ARMM. Puberty and fertility in congenital adrenal hyperplasia. In: Delemarre-van der Waal HA (ed). Abnormalities in Puberty. Scientific and Clinical Advances. Endocr Dev Basel Karger 2005;8:54-66.
20. Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fekete C, Morel Y, Brauner R. Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management. J Clin Endocrinol Metab 2003;88:2624-2633.
21. Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ. Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Obstet Gynecol Surv 2003;58:275-284.
22. Wedell A, Thilén A, Ritzen M, 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.
23. Zacharin M. Fertility and its complications in a patient with salt losing congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 1999;12:89-94.