Conception and pregnancy outcome in a patient with 11-bp deletion of the steroidogenic acute regulatory protein gene

Fertility and Sterility

Volumn 91, Issue 3, 2009, Pages 934.e15-934.e18

  Sertedaki, Amalia ^a   Pantos, Kostas ^b   Vrettou, Christina ^a   Kokkali, Georgia ^b   Christofidou, Christina ^a   Kanavakis, Emmanouel ^a   Dacou Voutetakis, Catherine ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b Genesis Athens Hospital   (Greece)

Author keywords

Addison's disease; Congenital lipoid adrenal hyperplasia; defective steroidogenesis; IVF; pregnancy; preimplantation diagnosis; StAR gene

Indexed keywords

ACETYLSALICYLIC ACID; ANDROGEN; CORTICOSTEROID; DARONDA; DNA; DOXYCYCLINE; ESTRADIOL VALERATE; ESTROGEN; ESTROPAUSE; FLUDROCORTISONE; GONADORELIN AGONIST; HYDROCORTISONE; ORAL CONTRACEPTIVE AGENT; PREDNISOLONE; PROGESTERONE; RECOMBINANT CHORIONIC GONADOTROPIN; RECOMBINANT FOLLITROPIN; RECOMBINANT LUTEINIZING HORMONE; SALOSPIR; STEROIDOGENIC ACUTE REGULATORY PROTEIN; UNCLASSIFIED DRUG;

ADRENAL INSUFFICIENCY; ADULT; ANDROGEN BLOOD LEVEL; ARTICLE; BIOPSY; BLASTOMERE; CASE REPORT; CONCEPTION; CONGENITAL ADRENAL HYPERPLASIA; DELIVERY; DNA DETERMINATION; DRUG MEGADOSE; ECHOGRAPHY; ENDOMETRIOSIS; FEMALE; FERTILIZATION IN VITRO; GENE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MENSTRUATION; OOCYTE; OVARY; OVARY CYST; OVARY HYPERSTIMULATION; PLACENTA FUNCTION; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; STAR GENE; STIMULATION; SUBSTITUTION THERAPY;

EID: 61349188948     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.07.1770     Document Type: Article

References (18)

1. Sugawara T., Holt J.A., Driscoll D., Strauss III J.F., Lin D., Miller W.L., et al. Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13. Proc Nat Acad Sci U S A 92 (1995) 4778-4782
2. Lin D., Sugawara T., Strauss III J.F., Clark B.J., Stocco D.M., Saenger P., et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 267 (1995) 1828-1831
3. Bose H.S., Sugawara T., Strauss III J.F., and Miller W.L. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. New Engl J Med 335 (1996) 1870-1878
4. Nakae J., Tajima T., Sugawara T., Arakane F., Hanaki K., Hotsubo T., et al. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Molec Genet 6 (1997) 571-576
5. Bhangoo A., Gu W.X., Pavlakis S., Anhalt H., Heir L., Ten S., et al. Phenotypic features associated with mutations in steroidogenic acute regulatory protein. J Clin Endocrinol Metabol 90 (2005) 6303-6309
6. Bose H.S., Sato S., Aisenberg J., Shalev S.A., Matsuo N., and Miller W.L. Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metabol 85 (2000) 3636-3639
7. Bose H.S., Pescovitz O.H., and Miller W.L. Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein (StAR) gene. J Clin Endocrinol Metabol 82 (1997) 1511-1515
8. Fujieda K., Tajima T., Nakae J., Sageshima S., Tachibana K., Suwa S., et al. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. J Clin Invest 99 (1997) 1265-1271
9. Sertedaki A., Dracopoulou A., Voutetakis A., Kanaka-Gantenbein C., Magiakou A.M., and Dacou-Voutetakis C. Mutations in the steroidogenic acute regulatory protein (StAR) in 5 patients of Hellenic origin. Report of certain distinct clinical characteristics. Horm Res 65 Suppl 4 (2006) 73
10. Pantos K., Meimeth-Damianaki T., Vaxevanoglou T., and Kapetanakis E. Prospective study of a modified gonadotropin-releasing hormone agonist long protocol in an in vitro fertilization program. Fertil Steril 61 (1994) 709-713
11. Yanagimachi R. Intracytoplasmic injection of spermatozoa and spermatogenic cells: its biology and applications in humans and animals. Reprod Biomed Online 10 (2005) 247-288
12. Kokkali G., Traeger-Synodinos J., Vrettou C., Stavrou D., Jones G.M., Cram D.S., et al. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of Beta-thalassaemia: a pilot study. Hum Reprod 22 (2007) 1443-1449
13. Vrettou C., Traeger-Synodinos J., Tzetis M., Palmer G., Sofocleous C., and Kanavakis E. Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable and widely applicable protocol for preimplantation genetic diagnosis. Hum Mutat 23 (2004) 513-521
14. Bhangoo A., Buyuk E., Oktay K., and Ten S. Phenotypic features of 46,XX females with StAR protein mutations. Ped Endocrinol Rev 5 (2007) 633-641
15. Caron K.M., Soo S.C., Wetsel W.C., Stocco D.M., Clark B.J., and Parker K.L. Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. Proc Nat Acad Sci U S A 94 (1997) 11540-11545
16. Strauss III J.F., Martinez F., and Kiriakidou M. Placental steroid hormone synthesis: unique features and unanswered questions. Biol Reprod 54 (1996) 303-311
17. Miller W.L. Steroid hormone biosynthesis and actions in the materno-feto-placental unit. Clin Perinatol 25 (1998) 799-817
18. Strauss III J.F., Christenson L.K., Devoto L., and Martinez F. Providing progesterone for pregnancy: control of cholesterol flux to the side-chain cleavage system. J Reprod Fertil Suppl 55 (2000) 3-12