Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 4, 2009, Pages 1333-1337

  Khoury, Khalil ^a   Barbar, Elie ^a   Ainmelk, Youssef ^a   Ouellet, Annie ^a   Lehoux, Jean Guy ^a  

^a UNIVERSITY OF SHERBROOKE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CLOMIFENE; GLUCOCORTICOID; MINERALOCORTICOID; PROGESTERONE; STEROIDOGENIC ACUTE REGULATORY PROTEIN;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; DRUG DOSE ESCALATION; FEMALE; GENE MUTATION; GESTATIONAL AGE; GONAD FUNCTION; HORMONAL THERAPY; HUMAN; KARYOTYPE 46,XX; LABORATORY TEST; PREGNANCY OUTCOME; PRIORITY JOURNAL; SPONTANEOUS ABORTION; VAGINAL DELIVERY;

EID: 65249131288     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-1694     Document Type: Article

References (22)

1. Prader A, Siebenmann RE 1957 [Adrenal insufficiency in congenital lipoid hyperplasia of the adrenals]. Helv Paediatr Acta 12:569-595 (German)
2. Bose HS, Sugawara T, Strauss 3rd JF, Miller WL 1996 The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 335:1870-1878
3. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL 1985 Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf) 23:481-493
4. Ogata T, Matsuo N, Saito M, Prader A 1989 The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia. Helv Paediatr Acta 43:531-538
5. Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss 3rd JF 1997 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 99:1265-1271
6. Matsuo N, Tsuzaki S, Anzo M, Ogata T, Sato S 1994 The phenotypic definition of congenital lipoid adrenal hyperplasia: analysis of the 67 Japanese patients. Horm Res 41(Suppl):106 (Abstract)
7. Lin D, Sugawara T, Strauss 3rd JF, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL 1995 Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 267:1828-1831
8. Clark BJ, Wells J, King SR, Stocco DM 1994 The purification, cloning, and expression of a novel luteinizing hormone-induced mitochondrial protein in MA-10 mouse Leydig tumor cells. Characterization of the steroidogenic acute regulatory protein (StAR). J Biol Chem 269:28314-28322
9. Bhangoo A, Anhalt H, Ten S, King SR 2006 Phenotypic variations in lipoid congenital adrenal hyperplasia. Pediatr Endocrinol Rev 3:258-271
10. Bhangoo A, Gu WX, Pavlakis S, Anhalt H, Heier L, Ten S, Jameson JL 2005 Phenotypic features associated with mutations in steroidogenic acute regulatory protein. J Clin Endocrinol Metab 90:6303-6309
11. Miller WL 1997 Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein. J Mol Endocrinol 19:227-240
12. Khoury K, Ducharme L, LeHoux JG 2004 Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation. Endocr Res 30:925-929
13. Ronen-Fuhrmann T, Timberg R, King SR, Hales KH, Hales DB, Stocco DM, Orly J 1998 Spatio-temporal expression patterns of steroidogenic acute regulatory protein (StAR) during follicular development in the rat ovary. Endocrinology 139:303-315
14. Watari H, Arakane F, Moog-Lutz C, Kallen CB, Tomasetto C, Gerton GL, Rio MC, Baker ME, Strauss 3rd JF 1997 MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis. Proc Natl Acad Sci USA 94:8462-8467
15. Krueger KE, Papadopoulos V 1990 Peripheral-type benzodiazepine receptors mediate translocation of cholesterol from outer to inner mitochondrial membranes in adrenocortical cells. J Biol Chem 265:15015-15022
16. Papadopoulos V 1993 Peripheral-type benzodiazepine/diazepam binding inhibitor receptor: biological role in steroidogenic cell function. Endocr Rev 14:222-240
17. Christenson LK, Devoto L 2003 Cholesterol transport and steroidogenesis by the corpus luteum. Reprod Biol Endocrinol 1:90
18. Sierralta WD, Kohen P, Castro O, Munoz A, Strauss 3rd JF, Devoto L 2005 Ultrastructural and biochemical evidence for the presence of mature steroidogenic acute regulatoryprotein (StAR) in the cytoplasm ofhuman luteal cells. Mol Cell Endocrinol 242:103-110
19. Meis PJ 2005 17 hydroxyprogesterone for the prevention of preterm delivery. Obstet Gynecol 105(5 Pt 1):1128 -1135
20. Messinis IE 2005 Ovulation induction: a mini review. Hum Reprod 20:2688-2697
21. Creasy RK, Resnik R, Iams JD 2004 Maternal-fetal medicine: principles and practice. 5th ed. Philadelphia: Saunders
22. Khoury K, Ainmelk Y, Ouellet A, Lehoux JG 2006 A spontaneous pubertal development and a first case of pregnancy in a patient with lipoid congenital adrenal hyperplasia (CAH) due to homozygous StAR protein mutation. 12th World Congress of Gynecological Endocrinology. Gynecological Endocrinology 22(Suppl 1): 226 (Abstract)