Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 3, 1999, Pages 930-936

  Lo, Joan C ^a,b   Schwitzgebel, Valerie M ^a   Tyrrell, J Blake ^a   Fitzgerald, Paul A ^a   Kaplan, Selna L ^a   Conte, Felix A ^a   Grumbach, Melvin M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; ANDROGEN; ANDROSTENEDIONE; AROMATASE; CORTICOTROPIN; CORTISONE ACETATE; DEXAMETHASONE; ESTRIOL; ESTROGEN; FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; METHYLPREDNISOLONE; PREDNISONE; PREGNANETRIOL; STEROID 21 MONOOXYGENASE; TESTOSTERONE;

ADULT; ANDROGEN BLOOD LEVEL; AROMATIZATION; ARTICLE; BIRTH; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CORTICOSTEROID THERAPY; ENZYME ACTIVITY; FEMALE; HORMONAL REGULATION; HORMONE INHIBITION; HUMAN; INFANT; ORAL DRUG ADMINISTRATION; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROID BLOOD LEVEL; VIRILIZATION;

EID: 0032989573     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.3.930     Document Type: Article

References (59)

1. Mulaikal RM, Migeon CJ, Rock JA. 1987 Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 316:178-182.
2. Richards GE, Grumbach MM, Kaplan SL, Conte FA. 1978 The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia. J Clin Endocrinol Metab. 47:1208-1215.
3. Klingensmith GJ, Garcia SC, Jones HW, Migeon CJ, Blizzard RM. 1977 Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility. J Pediatr. 90:996-1004.
4. Rosenfield RL, Bickel S, Razdan AK. 1980 Amenorrhea related to progestin excess in congenital adrenal hyperplasia. Obstet Gynecol. 56:208-215.
5. Helleday J, Siwers B, Ritzén EM, Carlström K. 1993 Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency. J Clin Endocrinol Metab. 76:933-936.
6. Holmes-Walker DJ, Conway GS, Honour JW, Rumsby G, Jacobs HS. 1995 Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf). 43:291-296.
7. Premawardhana LDKE, Hughes IA, Read GF, Scanlon MF. 1997 Longer term outcome in females with congenital adrenal hyperplasia (CAH): the Cardiff experience. Clin Endocrinol (Oxf). 46:327-332.
8. Kai H, Nose O, Iida Y, Ono J, Harada T, Yabuuchi H. 1979 Female pseudohermaphroditism caused by maternal congenital adrenal hyperplasia. J Pediatr. 95:418-420.
9. Yamashita T, Kuzakae F. 1956 Pregnancy and delivery at term by long term cortisone treatment of a congenital adrenocortical hyerplasia. Endocrinol Jpn. 3:176-180.
10. Wilson RB, Keating FR. 1958 Pregnancy following treatment of congenital adrenal hyperplasia with cortisone. Am J Obstet Gynecol. 76:388-397.
11. Gans F, Ser J. 1959 Normal pregnancy and delivery in female pseudohermaphroditism. Acta Endocrinol (Copenh). 30:424-434.
12. Swyer GIM, Bonham DG. 1961 Successful pregnancy in a female pseudohermaphrodite. Br Med J. 1:1005-1006.
13. Eyton-Jones J. 1968 The adrenogenital syndrome and pregnancy. J Obstet Gynaecol Br Commw. 75:1063-1065.
14. Grumbach MM, Conte FA. 1998 Disorders of sexual differentiation. In: Wilson JD, Foster DW, Kronenberg HM, Larsen PR, eds. Williams' textbook of endocrinology, 9th ed. Philadelphia: Saunders; 1303-1425.
15. Grumbach MM, Ducharme JR. 1960 The effects of androgens on fetal sexual development. Fertil Steril. 11:157-180.
16. Shozu M, Akasofu K, Harada T, Kubota Y. 1991 A new cause of female pseudohermaphroditism: placental aromatase deficiency. J Clin Endocrinol Metab. 72:560-566.
17. Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. 1994 A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab. 78:1287-1292.
18. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. 1995 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab. 80:3689-3698.
19. arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab. 82:1739-1745.
20. Kitawaki J, Inoue S, Tamura T, Yamamoto T, Noguchi T, Osawa Y, Okada H. 1992 Increasing aromatase cytochrome P-450 level in human placenta during pregnancy: studied by immunohistochemistry and enzyme-linked immunosorbent assay. Endocrinology. 130:2751-2757.
21. McClamrock HD, Adashi EY. 1992 Gestational hyperandrogenism. Fertil Steril. 57:257-274.
22. Hensleigh PA, Carter RP, Grotjan HE. 1975 Fetal protection against masculinization with hyperreatio luteinalis and virilization. J Clin Endocrinol Metab. 40:816-823.
23. Berger NG, Repke JT, Woodruff JD. 1984 Markedly elevated serum testosterone in pregnancy without fetal virilization. Obstet Gynecol. 63:260-262.
24. Wilkins L. 1960 Masculinization of female fetus due to use of orally given progestins. JAMA. 172:1028-1032.
25. Grumbach MM, Ducharme JR, Moloshok RE. 1959 On the fetal masculinizing action of certain oral progestins. J Clin Endocrinol Metab. 19:1369-1380.
26. Kerlan V, Nahoul K, Le Martelot M-T, Bercovici J-P. 1994 Longitudinal study of maternal plasma bioavailable testosterone and androstanediol glucuronide levels during pregnancy. Clin Endocrinol (Oxf). 40:263-267.
27. Dorfman RL. 1967 The antiestrogenic and antiandrogenic activities of progesterone in the defense of a normal fetus. Anat Rec. 157:547-558.
28. Mauvais-Jarvis P, Kuttenn F, Baudot N. 1974 Inhibition of testosterone conversion to dihydrotestosterone in men treated percutaneously by progesterone. J Clin Endocrinol Metab. 38:142-147.
29. Hodgins MB. 1983 Possible mechanisms of androgen resistance in 5α-reductase deficiency: implications for the physiological roles of 5α-reductases. J Steroid Biochem. 19:555-559.
30. O'Leary P, Boyne P, Flett P, Beilby J, James I. 1991 Longitudinal assessment of changes in reproductive hormones during normal pregnancy. Clin Chem. 37:667-672.
31. Bammann BL, Coulam CB, Jiang N-S. 1980 Total and free testosterone during pregnancy. Am J Obstet Gynecol. 137:293-298.
32. Kirk JMW, Perry LA, Shand WS, Kirby RS, Besser GM, Savage MO. 1990 Female pseudohermaphroditism due to a maternal adrenocortical tumor. J Clin Endocrinol Metab. 70:1280-1284.
33. Verhoeven ATM, Mastboom JL, van Leusden HAIM, van der Velden WHM. 1973 Virilization in pregnancy coexisting with an (ovarian) mucinous cystadenoma: a case report and review of virilizing ovarian tumors in pregnancy. Obstet Gynecol. 28:597-622.
34. Haymond MW, Weldon VV. 1973 Female pseudohermaphroditism secondary to a maternal virilizing tumor. J Pediatr. 82:682-686.
35. Cohen DA, Daughaday WH, Weldon VV. 1982 Fetal and maternal virilization associated with pregnancy. Am J Dis Child. 136:353-356.
36. Manganiello PD, Adams LV, Harris RD, Ornvold K. 1995 Virilization during pregnancy with spontaneous resolution postpartum: a case report and review of the English literature. Obstet Gynecol Surv. 50:404-410.
37. Murset G, Zachmann M, Prader A, Fischer J, Labhart A. 1970 Male external genitalia of a girl caused by a virilizing adrenal tumour in the mother. Acta Endocrinol (Copenh). 65:627-638.
38. Seckl JR, Chapman KE. 1997 The 11β-hydroxysteroid dehydrogenase system, a determinant of glucocorticoid and mineralocorticoid action. Eur J Biochem. 249:361-364.
39. David M, Forest MG. 1984 Prenatal treatment of congenital adrenal hyperplasia resulting from 21 -hydroxylase deficiency. J Pediatr. 105:799-803.
40. Forest MG, Bétuel H, David M. 1989 Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study. Endocr Res. 15:277-301.
41. Mercado AB, Wilson RC, Cheng KC, Wei J-Q, New MI. 1995 Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab. 80:2014-2020.
42. Wilson M, Morganti AA, Zervoudakis I, et al. 1980 Blood pressure, the renin-aldosterone system and sex steroids throughout normal pregnancy. Am J Med. 68:97-104.
43. de Alvarez RR, Smith EK. 1957 Congenital adrenal hyperplasia. Endocrine patterns in women and effects of cortisone treatment. Obstet Gynecol. 9:426-434.
44. Mason AS. 1961 Pregnancy in an adrenal pseudohermaphrodite treated with cortisone. Br Med J. 1:1003-1004.
45. Southren AL, Saito A, Laufer A, Soffer LJ. 1961 Urinary hormone studies in untreated congenital adrenal hyperplasia during and after pregnancy. J Clin Endocrinol Metab. 21:675-683.
46. Avin J. 1962 Female pseudohermaphroditism with delivery of a normal child. Pediatrics. 29:828-830.
47. Vant JR, Horner RH. 1963 Adrenogenital syndrome: absence of the vagina with pregnancy and successful delivery. Am J Obstet Gynecol. 85:355-358.
48. Speroff L. 1965 The adrenogenital syndrome and its obstetrical aspects. Obstet Gynecol Surv. 20:185-214.
49. Harrison KA, Lister UG. 1966 Successful pregnancy in a patient with adrenogenital syndrome. J Obstet Gynaecol Br Commw. 73:493-495.
50. Mori N, Miyakawa I. 1970 Congenital adrenogenital syndrome and successful pregnancy. Obstet Gynecol. 35:394-400.
51. Lev-Ran A. 1975 Isosexual development of women with late-treated congenital adrenal hyperplasia. Obstet Gynecol. 46:313-316.
52. Sotiropoulos A, Morishima A, Homsy Y, Lattimer JK. 1976 Long-term assessment of genital reconstruction in female pseudohermaphrodites. J Urol. 115:599-601.
53. Porter RJ, de Swiet M. 1983 Pregnancy in a patient with congenital adrenal hyperplasia. Pediatr Adolesc Gynecol. 1:39-45.
54. Grant D, Muram D, Dewhurst J. 1983 Menstrual and fertility patterns in patients with congenital adrenal hyperplasia. Pediatr Adolesc Gynecol. 1:97-103.
55. Costa EMF, Mendonca BB, Inácio M, Arnhold IJP, Silva FAQ, Lodovici O. 1997 Management of ambiguous genitalia in pseudohermaphrodites: new perspectives on vaginal dilation. Fertil Steril. 67:229-232.
56. Andersen M, Andreasen E, Jest P, Larsen S. 1983 Successful pregnancy in a woman with severe congenital 21-hydroxylase deficiency of the salt losing type. Pediatr Adolesc Gynecol. 1:47-52.
57. Blumberg DL, Reggiardo D, Sklar C, David R. 1988 Congenital adrenal hyperplasia and fertility [Letter to the Editor]. N Engl J Med. 319:951.
58. Yamell RW, D'Alton ME, Steinbok VS. 1994 Pregnancy complicated by preeclampsia and adrenal insufficiency. Anesth Analg. 78:176-178.
59. Pang S, Wallace MA, Hofman L, et al. 1988 Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 81:866-874.