21-Hydroxylase deficiency: An exemplary model of the contribution of molecular biology in the understanding and management of the disease

Annales d'Endocrinologie

Volumn 66, Issue 3, 2005, Pages 225-232

  Forest, M G ^a   Tardy, V ^a   Nicolino, M ^a   David, M ^a   Morel, Y ^a  

^a HÔPITAL DEBROUSSE   (France)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia (CAH); Genetic counseling; Prenatal diagnosis; Prenatal treatment; Salt losing; Sexual ambiguity

Indexed keywords

HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

AMNION FLUID; CONFERENCE PAPER; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN TEST; DISEASE COURSE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENITAL SYSTEM; GENOTYPE PHENOTYPE CORRELATION; HORMONE DETERMINATION; HUMAN; INFANT; MOLECULAR BIOLOGY; PRENATAL DEVELOPMENT; PRENATAL DIAGNOSIS; PRENATAL PERIOD; RISK FACTOR; SEX DIFFERENTIATION; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS; VIRILIZATION;

EID: 18944384700     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-4266(05)81754-8     Document Type: Conference Paper

References (26)

1. Coleman MA, Honour JW. Reduced maternal dexamethasone dosage for the prenatal treatment of congenital adrenal hyperplasia. BJOG 2004 ; 111 : 176-8.
2. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn 2001 ; 21 : 1070-4.
3. David M, Forest MG. Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. J Pediatr 1984 ; 105 : 799-803.
4. Forest MG. Hiperplasia suprarrenal congenita. In Tratado de Endocrinologia Pediatrica, Chap. 58, Pombo Arias M (ed.). Editiones Diaz de Santos, S.A., Madrid. 1997, 901-35.
5. Forest MG. Prenatal Diagnosis and treatment in congenital adrenal hyperplasia. In Diagnosis and Treatment of the Unborn Child, New M (ed.). Idelson-Gnocchi Ltd. 1999, 85-95.
6. Forest MG. Congenital adrenal hyperplasia, prenatal diagnosis and therapy. In Encyclopedia of Endocrine disease.4Vset, Martini L (ed.), vol. 1. Elsevier, St Louis. 2004, 538-47.
7. Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update 2004 ; 10 : 469-85.
8. Forest MG, Bétuel H, David M. Prenatal treatment in congenital adrenal hyperplasia due to 21- hydroxylase deficiency: update 88 of the French multicentric study. Endocrine Res 1989 ; 15 : 277-301.
9. Forest MG, Dörr HG. Prenatal therapy in congenital adrenal hyperplasia due to 21-hydoxylase deficiency: Retrospective follw-up study of 253 treated pregnancies in 215 families. Endocrinologist 2003 ; 13 : 252-9.
10. Forest MG, Morel Y. Formes non classiques dites "tardives" du déficit en 21-hydroxylase: diagnostic différentiel avec les hétérozygotes et conseil génétique. Rev Franç Endocrinol Clin 1992 ; 33 : 47-61.
11. Forest MG, Morel Y. Prenatal diagnosis of congenital adrenal hyperplasia. Neonatal Monitor 1993 ; 8 : 1-6.
12. Forest MG, Morel Y, David M. Prenatal treatment of congenital adrenal hyperplasia. Trends Endocrinol Metab 1998 ; 9 : 284-9.
13. Gourmelen M, Gueux B, Pham Huu Trung MT, Fiet J, Raux-Demay MC, Girard F. Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement. Acta Endocrinol (Copenh) 1987 ; 116 : 507-12.
14. Guidollet-Tardy V. Le déficit en 21-hydroxylase. Mise au point de l'exploration moléculaire de 1 538 patients et 188 hété rozygotes ; corrélations génotype-phénotype. 2002. Thèse de Doctorat. University Lyon I.
15. 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 : 1059-65.
16. L'Allemand D, Tardy V, Gruters A, Schnabel D, Krude H, Morel Y. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency. J Clin Endocrinol Metab 2000 ; 85 : 4562-7.
17. Lajic S, Wedell A, Bui TH, Ritzen EM, Holst M. Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 1998 ; 83 : 3872-80.
18. Mercado AB, Wilson RC, Cheng KC, Wei JQ, New MI. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1995 ; 80 : 2014-20.
19. Morel Y, Miller WL. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991 ; 20 : 1-68.
20. Morel Y, Tardy V, Costa JM, Forest MG, David M. Déficit en 21-hydroxylase : nouvelles démarches déduites des études moléculaires. Ann Endocrinol (Paris) 2003 ; 64 : 456-70.
21. New MI. Diagnosis and management of congenital adrenal hyperplasia. Annu Rev Med 1998 ; 49 : 311-28.
22. New MI. Prenatal treatment of congenital adrenal hyperplasia. The United States experience. Endocrinol Metab Clin North Am 2001 ; 30 : 1-13.
23. Tardy V. Étude du déficit en 21-hydroxylase chez 260 patients avec une forme non classique. 1997. Thèse de Médecine. Université Claude Bernard.
24. Wedell A. Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia. Clin Lab Med 1996 ; 16 : 125-37.
25. Wedell A. An update on the molecular genetics of congenital adrenal hyperplasia; diagnostic and therpeutic aspects. J Pediatr Endocrinol Metab 1998 ; 11 : 581-9.
26. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000 ; 21 : 245-91.