Congenital adrenal hyperplasia in pregnancy

Seminars in Perinatology - Tập 22 - Trang 446-456 - 1998
Peter R. Garner1
1Department of Obstetrics/Gynecology and Medicine (Endocrinology), University of Ottawa, Ottawa, Canada

Tài liệu tham khảo

Pang, 1988, Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-Hydroxylase deficiency, Pediatrics, 81, 866 Speiser, 1985, High frequency of non-classical steroid 21-Hydroxylase deficiency, Am J Hum Genet, 37, 650 Garner, 1993, Disorders of the Adrenal Cortex in Pregnancy, Vol 2, 183 Whiteley, 1957, The effect of pregnancy on the Adrenal Cortex, J Endocrinol, 14, 325, 10.1677/joe.0.0140325 Goland, 1986, High levels of corticotropin-releasing hormone immunoactivity in maternal and fetal plasma during pregnancy, J Clin Endocrinol Metab, 63, 1199, 10.1210/jcem-63-5-1199 Riley, 1991, The localisation and distribution of corticotropin-releasing hormone in the human placenta and fetal membranes throughout gestation, J Clin Endocrinol Metab, 72, 1001, 10.1210/jcem-72-5-1001 Rees, 1975, Possible placental origin of ACTH in normal human pregnancy, Nature, 254, 620, 10.1038/254620b0 Demey-Ponsart, 1982, Serum CBG, free and total cortisol and circadian patterns of adrenal function in normal pregnancy, J Steroid Biochem, 16, 165, 10.1016/0022-4731(82)90163-7 Garner, 1996, Management of congenital adrenal hyperplasia during pregnancy, Endocrine Practise, 2, 397, 10.4158/EP.2.6.397 Saez, 1972, Metabilic clearance rate and blood production rate of testosterone and dihydrotestosterone in normal subjects during pregnancy, J Clin Invest, 51, 1226, 10.1172/JCI106917 Simmer, 1972, Plasma testosterone in maternal peripheral blood and in cord venous blood after administration of testosterone enanthate to the mother, Steroids, 19, 229, 10.1016/0039-128X(72)90007-4 Garner, 1977, The effect of human chorionic gonadotropin and estradiol on the maintenance of the corpus luteum of early pregnancy, Am J Obstet Gynecol, 128, 469, 10.1016/0002-9378(77)90026-6 Mercado, 1995, Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-Hydroxylase deficiency, J Clin Endocrinol Metab, 80, 2014, 10.1210/jc.80.7.2014 Rosler, 1988, 11β-Hydroxylase deficiency congenital adrenal hyperplasia: Update of prenatal diagnosis, J Clin Endocrinol Metab, 66, 830, 10.1210/jcem-66-4-830 Partsch, 1991, The steroid hormone milieu of the undisturbed human fetus and mother at 16–20 weeks gestation, J Clin Endocrinol Metab, 73, 969, 10.1210/jcem-73-5-969 Gonzalez, 1989, The molecular biology of cytochrome P450s, Pharmacol Rev, 40, 243 Morel, 1991, Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency, Adv Hum Genet, 20, 1, 10.1007/978-1-4684-5958-6_1 Miller, 1994, Genetics, diagnosis and management of 21-Hydroxylase deficiency, J Clin Endocrinol Metab, 78, 241, 10.1210/jc.78.2.241 Miller, 1991, Congenital adrenal hyperplasias, Endocrinol Metab Clin North Am, 20, 721, 10.1016/S0889-8529(18)30241-X Chua, 1987, Cloning of cDNA encoding steroid 11-Hydroxylase (P450c11), Proc Natl Acad Sci USA, 84, 7193, 10.1073/pnas.84.20.7193 Lorence, 1990, Structural analysis of the gene encoding human 3β-HSD, Mol Endocrinol, 4, 1850, 10.1210/mend-4-12-1850 Klingensmith, 1977, Glucocorticoid treatment of girls with congenital adrenal hyperplasia: Effect of height, sexual maturity, and fertility, J Pediatr, 90, 996, 10.1016/S0022-3476(77)80581-7 Mulaikal, 1987, Fertility rates in female patients with congenital adrenal hyperplasia due to 21-Hydroxylase deficiency, N Engl J Med, 316, 178, 10.1056/NEJM198701223160402 Kuhnle, 1993, Partnership and sexuality in adult female patients with congenital adrenal hyperplasia. First results of a cross-sectional quality-of-life evaluation, J Steroid Biochemn Mol Biol, 45, 123, 10.1016/0960-0760(93)90131-F Feldman, 1992, Fertility in women with late onset Adrenal Hyperplasia due to 21-Hydroxylase deficiency, J Clin Endocrinol Metab, 74, 635, 10.1210/jc.74.3.635 Hague, 1990, The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives, Clin Endocrinol (Oxf), 36, 53 Grant, 1983, Menstrual and fertility patterns in patients with congenital adrenal hyperplasia, Pediatr Adolesc Gynecol, 1, 97 Andersen, 1983, Successful pregnancy in a woman with severe congenital 21-Hydroxylase deficiency of the salt losing type, Pediatr Adolesc Gynecol, 1, 47 de Swiet, 1989, Diseases of the Pituitary and Adrenal Glands, 681 Porter, 1983, Pregnancy in a patient with congenital adrenal hyperplasia, Pediatr Adolesc Gynecol, 1, 39 Hughes, 1982, Congenital and acquired disorders of the adrenal cortex, Clin Endocrinol Metab, 11, 89, 10.1016/S0300-595X(82)80039-X New, 1984, Recent advances in 21-Hydroxylase deficiency, Annu Rev Med, 35, 649, 10.1146/annurev.me.35.020184.003245 New, 1983, Genotyping steroid 21-Hydroxylase deficiency: Hormonal reference data, J Clin Endocrinol Metab, 57, 320, 10.1210/jcem-57-2-320 Grankvist, 1989, On the prenatal diagnosis of congenital adrenal hyperplasia (CAH) by measurement of amniotic fluid, 17 α Hydroxyprogesterone, Aldosterone and cortisol, Acta Obstet Gynecol Scand, 68, 71, 10.3109/00016348909087693 Pang, 1990, Newborn screening, prenatal diagnosis and prenatal treatment of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency, Trends Endocrinol Metab, 1, 300, 10.1016/1043-2760(90)90068-E New, 1988, Gonadal differentiation and congenital adrenal hyperplasia, Endocrinol Metab Clin North Am, 17, 343, 10.1016/S0889-8529(18)30424-9 White, 1985, Two genes encoding steroid 21-Hydroxylase are located near the genes encoding the fourth component of complement in man, Proc Natl Acad Sci USA, 82, 1089, 10.1073/pnas.82.4.1089 Reindollar, 1988, Prenatal diagnosis of 21-Hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P450c21, Am J Obstet Gynecol, 158, 545, 10.1016/0002-9378(88)90022-1 Speiser, 1990, First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia, J Clin Endocrinol Metab, 70, 838, 10.1210/jcem-70-4-838 White, 1992, Genetic basis of endocrine disease 2: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Clin Endocrinol Metab, 74, 6, 10.1210/jc.74.1.6 Migeon, 1992, Editorial: Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency, J Clin Endocrinol Metab, 74, 836 Kream, 1983, Determination of plasma dexamethasone in the mother and the newborn after administration of the hormone in a clinical trial, J Clin Endocrinol Metab, 56, 127, 10.1210/jcem-56-1-127 1984, Effects of antenatal dexamethasone administration in the infant: Long term follow-up, J Pediatr, 104, 259, 10.1016/S0022-3476(84)81009-4 Forest, 1989, Prenatal treatment in congenital adrenal hyperplasia due to 21-Hydroxylase deficiency: Update '88 of the French multicentre trial, Endocr Res, 15, 277, 10.1080/07435808909039101 Fainstat, 1954, Cortisone-induced congenital cleft palate in rabbits, Endocrinology, 55, 502, 10.1210/endo-55-4-502 Arad, 1984, Adrenocortical reserve of neonates born of long-term, steroid treated mothers, Eur J Pediatr, 142, 279, 10.1007/BF00540252 Beitins, 1972, The transplacental passage of prednisone and prednisolone in pregnancy near term, J Pediatr, 81, 936, 10.1016/S0022-3476(72)80547-X Ballard, 1975, Glucocorticoid levels in maternal and cord serum after prenatal Beclomethasone therapy to prevent respiratory distress syndrome, J Clin Invest, 56, 1548, 10.1172/JCI108236 1994 Fitzhardinge, 1974, Sequelae of early steroid administration to the newborn infant, Pediatrics, 53, 877, 10.1542/peds.53.6.877 1984, Effects of antenatal Dexamethasone administration in the infant: Long term follow-up, J Pediatr, 104, 259, 10.1016/S0022-3476(84)81009-4 MacArthur, 1982, School progress and cognitive development of 6 year old children whose mothers were treated antenatally with Betamethasone, Pediatrics, 70, 99, 10.1542/peds.70.1.99 Trautman, 1995, Effects of early prenatal Dexamethasone on the cognitive and behavioral development of young children: Results of a pilot study, Psychoneuroendocrinology, 20, 439, 10.1016/0306-4530(94)00070-0 Sivan, 1995, Sonographic prenatal diagnosis of ambiguous genitalia, Fetal Diagn Ther, 10, 311, 10.1159/000264250 Mandell, 1995, Prenatal sonographic detection of genital malformations, J Urol, 153, 1994, 10.1016/S0022-5347(01)67389-0 Bronshtein, 1993, Transvaginal ultrasonographic measurements of the fetal adrenal glands at 12 to 17 weeks gestation, Am J Obstet Gynecol, 169, 1205, 10.1016/0002-9378(93)90282-N Geley, 1996, CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-Hydroxylase deficiency, J Clin Endocrinol Metab, 81, 2896, 10.1210/jc.81.8.2896 Azziz, 1991, 11β-Hydroxylase deficiency in hyperandrogenism, Fertil Steril, 55, 733, 10.1016/S0015-0282(16)54239-3 Sonino, 1980, Parallelism of 11 and 18-Hydroxylation demonstrated by urinary free hormones in man, J Clin Endocrinol Metab, 51, 557, 10.1210/jcem-51-3-557 Talia, 1990, Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia, N Engl J Med, 323, 855, 10.1056/NEJM199009273231302 Rosler, 1982, Clinical variability of congenital adrenal hyperplasia due to 11β-Hydroxylase deficiency, Hormone Res, 16, 133, 10.1159/000179494 Cathelineau, 1980, Adrenocortical 11β-hydroxylation defect in adult women with post-menarchial onset of symptoms, J Clin Endocrinol Metab, 51, 287, 10.1210/jcem-51-2-287 Skinner, 1996, Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene, J Clin Endocrinol Metab, 81, 2389, 10.1210/jc.81.6.2389 Hazard, 1980, Late diagnosis of hyperandrogenism due to adrenal enzyme deficiency, Sem Hop Paris, 56, 1973 Schumert, 1980, 11-Deoxycortisol in amniotic fluid: Prenatal diagnosis of congenital adrenal hyperplasia due to 11β-Hydroxylase deficiency, Clin Endocrinol, 12, 257, 10.1111/j.1365-2265.1980.tb02708.x Toaff, 1975, Congenital adrenal hyperplasia caused by 11β-Hydroxylase deficiency with onset of symptoms after one spontaneous pregnancy, Am J Obstet Gynecol, 121, 202, 10.1016/0002-9378(75)90640-7 Nasir, 1996, 11β-Hydroxylase deficiency: Management of a difficult case by laparoscopic bilateral adrenalectomy, Clin Endocrinol, 45, 225, 10.1046/j.1365-2265.1996.d01-1556.x Van Wyk, 1996, The use of adrenalectomy as a treatment for congenital adrenal hyperplasia, J Clin Endocrinol Metab, 81, 3180, 10.1210/jc.81.9.3180 Rosler, 1982, Clinical variability of congenital adrenal hyperplasia due to 11-Hydroxylase deficiency, Horm Res, 16, 133, 10.1159/000179494 Bouchard, 1989, Familial congenital adrenal hyperplasia caused by 11-Hydroxylase deficiency. Failure of prevention of sexual ambiguity and prenatal diagnosis, Pediatrics, 44, 637 Morel, 1997, Structure-function relationships of 3β-hydroxysteroid dehydrogenase: Contribution made by the molecular genetics of 3β-hydroxysteroid dehydrogenase deficiency, Steroids, 62, 176, 10.1016/S0039-128X(96)00178-X Simard, 1995, Molecular basis of human 3β-hydroxysteroid dehydrogenase deficiency, J Steroid Biochem Mol Biol, 53, 127, 10.1016/0960-0760(95)00043-Y Lobo, 1981, Evidence for reduced 3-β-olhydroxy-steroid dehydrogenase activity in some hirsute women thought to have polycystic ovarian disease, J Clin Endocrinol Metab, 55, 394, 10.1210/jcem-53-2-394 Rojansky, 1991, Long term infertility in late onset of 3β-HSD deficiency: Successful pregnancy following Dexamethasone and in-vitro fertilization, J In Vitro Fert Embryo Transf, 8, 298, 10.1007/BF01139790