Page 204 - Ghidul Serviciilor Medicale Synevo, Ediția 2, Volum 3

18 TESTE DE BIOLOGIE MOLECULARĂ GHIDUL SERVICIILOR MEDICALE
AL LABORATOARELOR SYNEVO

adrenogenital; există doar cîteva excepţii rare de neconcordanţă genotip-fenotip .
10
Testarea genetică pentru deficitul de 11-hidroxilază
Interpretarea rezultatelor este similară cu cea pentru deficitul de 21-hidroxilază. Dacă ambii părinţi
sunt cunoscuţi a fi purtători de mutaţii CYP11B1 asociate cu forma virilizantă de boală există opţiunea
tratamentului prenatal la feţii de sex feminin afectaţi . 6
Testarea genetică pentru 3ß-hidroxisteroid dehidrogenază
Fiind de asemenea o afecţiune cu transmitere autozomal-recesivă interpretarea rezultatelor este
similară cu cea pentru deficitul de 21-hidroxilază .
6
Bibliografie

1. Catherine E. Keegan, Anthony A. Killeen. An Overview of Molecular Diagnosis of Steroid 21-
Hydroxylase Deficiency. In JMD 2001, Vol.3, No.2.
2. Gabriel I Uwaifo. C-11 Hydroxylase Deficiency. www. emedicine.medscape.com. Ref Type:
Internet Communication.
3. Helena A. Guber, Amal F. Farag, James Lo, James Sharp. Evaluation of Endocrine Function. In
Henry´s Clinical Diagnosis and Management By Laboratory Methods, Ed.Saunders, 2007, 344-
348.
4. J. Paul Frindik . 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. www. emedicine.medscape.
com. Ref Type: Internet Communication.
5. Jacques Simard, Marie-Louise Ricketts, Sébastien Gingras, Penny Soucy, F. Alex Feltus and
Michael H. Melner. Molecular Biology of the 3ß-Hydroxysteroid Dehydrogenase/Δ -Δ Isomerase
5
4
Gene Family. In Endocrine Reviews 26 (4): 525-582.
6. Laborator Synevo. Referinţe specifice tehnologiei de lucru utilizate 2010. Ref Type: Catalog.
7. Lajic S, Clauin S,Robins T, Vexiau P, Blanche H, Bellanne-Chantelot C, Wedell A. Novel
mutations in CYP21 detected in individuals with hyperandrogenism. In The Journal of Clinical
Endocronology and Metabolism, 2002, 87(6):2824-2829.
8. Mayo Clinic, Mayo Medical Laboratories. Reference Laboratory Services for Health Care
Organizations. 21-Hydroxylase Gene, Known Mutation. www.mayomedicallaboratories.com.
2010. Ref Type: Internet Communication.
9. Quest Diagnostics. Congenital Adrenal Hyperlasia. Laboratory Support of Diagnosis and
Manangement. Clinical Focus. www.questdiagnostics.com. Reference Type: Internet
Communication.
10. Saroj Nimkarn, Maria I New. 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. Gene
Reviews, 2008. www.ncbi.nlm.nih.gov. ReferenceType: Internet Communication.
11. Silvia Parajes, Lourdes Loidi, Nicole Reisch, Vivek Dhir, Ian T. Rose, Rainer Hampel, Marcus
Quinkler, Gerard S. Conway, Lidia Castro-Feijóo, David Araujo-Vilar, Manuel Pombo, Fernando
Dominguez, Emma L. Williams, Trevor R. Cole, Jeremy M. Kirk, Elke Kaminsky, Gill Rumsby,
Wiebke Arlt, Nils Krone. Functional Consequences of Seven Novel Mutations in the CYP11B1
Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-
Hydroxylase Deficiency. In J Clin Endocrinol Metab. 2010 February; 95(2): 779-788.
12. Suemi M, Russell AJ, Paula F, Dick-de-Paula I, Marcondes JA, Mendonca BB. Genotyping of the

204