5 Congenital adrenal hyperplasia

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Bongiovanni, 1962, The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase, Journal of Clinical Investigation, 41, 2086, 10.1172/JCI104666 Bristow, 1993, Abundant adrenal-specific transcription of the human P450c21A ‘pseudogene’, Journal of Biological Chemistry, 268, 12919, 10.1016/S0021-9258(18)31473-X Cara, 1985, Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency, New England Journal of Medicine, 313, 618, 10.1056/NEJM198509053131007 Carmina, 1994, Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Fertility and Sterility, 62, 738, 10.1016/S0015-0282(16)56998-2 Chang, 1995, Difference in transcriptional activity of two homologous CYP21A genes, Molecular Endocrinology, 9, 1330, 10.1210/me.9.10.1330 Chang, 1993, Mutations in the type II 3β-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia, Pediatric Research, 34, 698, 10.1203/00006450-199311000-00026 Chang, 1993, Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt-wasting 3β-hydroxy-steroid dehydrogenase deficiency congenital adrenal hyperplasia, Journal of Clinical Endocrinology and Metabolism, 77, 1251, 10.1210/jc.77.5.1251 Chang, 1995, Absence of molecular defect in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3β-HSD activity, Pediatric Research, 37, 820, 10.1203/00006450-199506000-00024 Chiou, 1990, A missense mutation at Ile172→Asn or Arg356→Trp causes steroid 21-hydroxylase deficiency, Journal of Biological Chemistry, 265, 3549, 10.1016/S0021-9258(19)39804-7 Dewailly, 1986, Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency, Journal of Clinical Endocrinology and Metabolism, 63, 418, 10.1210/jcem-63-2-418 Ehrmann, 1992, Detection of functional ovarian hyperandrogenism in women with androgen excess, New England Journal of Medicine, 327, 157, 10.1056/NEJM199207163270304 Eldar-Geva, 1990, Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia, New England Journal of Medicine, 323, 855, 10.1056/NEJM199009273231302 Feldman, 1992, Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency, Journal of Clinical Endocrinology and Metabolism, 74, 635, 10.1210/jc.74.3.635 Feuillan, 1988, The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiency, Journal of Clinical Endocrinology and Metabolism, 67, 154, 10.1210/jcem-67-1-154 Fiet, 1989, Increased plasma 21-deoxycorticosterone (21-levels in late-onset adrenal 21-hydroxylase deficiency suggest a mild defect of the mineralocorticoid pathway, Journal of Clinical Endocrinology and Metabolism, 68, 542, 10.1210/jcem-68-3-542 Fiet, 1994, The application of a new highly-sensitive radioimmunoassay for plasma 21-deoxycortisol to the detection of steroid-21-hydroxylase deficiency, Annal of Clinical Biochemistry, 31, 56, 10.1177/000456329403100110 Ghali, 1977, Linear growth and pubertal development in treated congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Clinical Endocrinology, 6, 425, 10.1111/j.1365-2265.1977.tb03325.x Ghizzoni, 1994, Dynamics of 24-hour pulsatile cortisol, 17-hydroxy-progesterone, and androstenedione release in prepubertal patients with non-classic 21-hydroxylase deficiency and normal prepubertal children, Metabolism, 43, 372, 10.1016/0026-0495(94)90107-4 Ghizzoni, 1996, Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Journal of Endocrinology and Metabolism, 81, 606, 10.1210/jc.81.2.601 Gibson, 1980, Abnormal adrenal responses to adrenocorticotropic hormone in hyperandrogenic women, Fertility and Sterility, 33, 43, 10.1016/S0015-0282(16)44475-4 Glass, 1994, Adrenal insufficiency in a man with classical 21-hydroxylase deficiency: Consequence or coincidence?, Journal of Endocrinology Investigation, 17, 665, 10.1007/BF03349683 Grant, 1983, Menstrual and fertility patterns in patients with congenital adrenal hyperplasia, Pediatric and Adolescent Gynecology, 1, 97 Hague, 1989, Steroid responses to ACTH in women with polycystic ovaries, Clinical Endocrinology, 30, 355, 10.1111/j.1365-2265.1989.tb00433.x Hawkins, 1992, The role of adrenocorticotropin testing in evaluating girls with premature adrenarche and hirsutism/oligomenorrhea, Journal of Clinical Endocrinology and Metabolism, 74, 248, 10.1210/jc.74.2.248 Helleday, 1993, Subnormal androgen and elevated progesterone levels in women treated for congenital virilizing 21-hydroxylase deficiency, Journal of Clinical Endocrinology and Metabolism, 76, 933, 10.1210/jc.76.4.933 Helmberg, 1992, R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions, Molecular Endocrinology, 6, 1318, 10.1210/me.6.8.1318 Higashi, 1988, Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450 (C21) gene: implications for steroid 21-hydroxylase deficiency, American Journal of Human Genetics, 42, 17 Higashi, 1988, Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450 (C21)] deficiency in humans: possible gene conversion products, Biochemistry, 85, 7486 Higashi, 1991, Effects of individual mutations in the P-450 (C21) pseudogene on the P-450 (C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency, Journal of Biochemistry, 109, 638, 10.1093/oxfordjournals.jbchem.a123433 Holmes-Walker, 1995, Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Clinical Endocrinology, 43, 291, 10.1111/j.1365-2265.1995.tb02034.x Honour, 1993, Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Biochemistry and Molecular Biology, 45, 69 Jones, 1971, Congenital adrenal hyperplasia: age at menarche and related events at puberty, American Journal of Obstetric Gynecology, 109, 292, 10.1016/0002-9378(71)90878-7 Kirkland, 1974, Serum gonadotropin levels in female adolescents with congenital adrenal hyperplasia, Journal of Pediatrics, 84, 411, 10.1016/S0022-3476(74)80728-6 Klingensmith, 1976, Gonadotropin output in congenital adrenal hyperplasia before and after adrenal suppression, Journal of Clinical Endocrinology and Metabolism, 43, 933, 10.1210/jcem-43-4-933 Klingensmith, 1977, Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation, and fertility, Journal of Pediatrics, 90, 966, 10.1016/S0022-3476(77)80581-7 Kohn, 1982, Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia, Journal of Clinical Endocrinology and Metabolism, 55, 817, 10.1210/jcem-55-5-817 Kuhnle, 1981, The 21-hydroxylase activity in the glomerulosa and fasciculata of the adrenal cortex in congenital adrenal hyperplasia, Journal of Clinical Endocrinology and Metabolism, 52, 534, 10.1210/jcem-52-3-534 Kuttenn, 1985, Late-onset adrenal hyperplasia in hirsutism, New England Journal of Medicine, 313, 224, 10.1056/NEJM198507253130404 Labrie, 1992, Structure, function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracine steroidogenic tissues, Journal of Steroid Biochemistry and Molecular Biology, 43, 805, 10.1016/0960-0760(92)90308-6 Levine, 1977, Disordered puberty in treated congenital adrenal hyperplasia, 361 Levine, 1981, Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency, Journal of Clinical Endocrinology and Metabolism, 53, 1193, 10.1210/jcem-53-6-1193 Lobo, 1981, Evidence for reduced 3β-ol-hydroxysteroid dehydrogenase activity in some hirsute women thought to have polycystic ovary syndrome, Journal of Clinical Endocrinology and Metabolism, 53, 394, 10.1210/jcem-53-2-394 Lorenzen, 1980, Studies of the C-21 and C-19 steroids and HLA genotyping in siblings and parents of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Journal of Clinical Endocrinology and Metabolism, 50, 572, 10.1210/jcem-50-3-572 Mason, 1993, The 3β-hydroxysteroid dehydrogenase gene family of enzymes, Trends in Endocrinology and Metabolism, 4, 199, 10.1016/1043-2760(93)90117-W Mendonca, 1987, Male pseudohermaphroditism due to nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty, Journal of Steroid Biochemistry, 28, 669, 10.1016/0022-4731(87)90396-7 Mendonca, 1994, Mutation in 3β-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females, Journal of Molecular Endocrinology, 12, 119, 10.1677/jme.0.0120119 Miller, 1987, Molecular and clinical advances in congenital adrenal hyperplasia, Journal of Pediatrics, 111, 1, 10.1016/S0022-3476(87)80334-7 Mornet, 1991, Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency, American Journal of Human Genetics, 48, 79 Mulaikal, 1987, Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, New England Journal of Medicine, 316, 178, 10.1056/NEJM198701223160402 New, 1983, Genotyping steroid 21-hydroxylase deficiency: hormonal reference data, Journal of Clinical Endocrinology and Metabolism, 57, 320, 10.1210/jcem-57-2-320 Owerbach, 1992, Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction, Journal of Clinical Endocrinology and Metabolism, 74, 553, 10.1210/jc.74.3.553 Owerbach, 1992, Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency, Molecular Endocrinology, 6, 1211, 10.1210/me.6.8.1211 Pang, 1993, Congenital adrenal hyperplasia, 101 Pang, 1994, Congenital adrenal hyperplasia, 157 Pang, 1995, Hirsuitsm and polycystic ovary syndrome, 235 Pang, 1990, Puberty in congenital adrenal hyperplasia, 669 Pang, 1977, Growth and sexual maturation in treated congenital adrenal hyperplasia, 233 Pang, 1979, Serum androgen concentrations in neonates and young infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Clinical Endocrinology, 11, 575, 10.1111/j.1365-2265.1979.tb03111.x Pang, 1983, Nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function, Journal of Clinical Endocrinology and Metabolism, 56, 808, 10.1210/jcem-56-4-808 Pang, 1985, Late-onset adrenal steroid 3α-hydroxysteroid dehydrogenase deficiency I: A cause of hirsutism in pubertal and postpubertal women, Journal of Clinical Endocrinology and Metabolism, 60, 428, 10.1210/jcem-60-3-428 Reiter, 1975, The response of pituitary gonadotropes to synthetic LRF in children with glucocorticoid-treated congenital adrenal hyperplasia: lack of effect of intrauterine and neonatal androgen excess, Journal of Clinical Endocrinology and Metabolism, 40, 318, 10.1210/jcem-40-2-318 Rheaume, 1992, Congenital adrenal hyperplasia due to point mutations in the type II 3β-hydroxysteroid dehydrogenase gene, Nature and Genetics, 1, 239, 10.1038/ng0792-239 Rheaume, 1994, Molecular basis of congenital adrenal hyperplasia in two siblings with classical non salt-losing 3β-hydroxysteroid dehydrogenase deficiency, Journal of Clinical Endocrinology and Metabolism, 79, 1012, 10.1210/jc.79.4.1012 Richards, 1978, The effect of long acting glucocorticoids on menstrual abnormalities in patients with virilizing congenital adrenal hyperplasia, Journal of Clinical Endocrinology and Metabolism, 47, 1208, 10.1210/jcem-47-6-1208 Richards, 1977, Plasma sex steroids and gonadotropins in pubertal girls with congenital adrenal hyperplasia: relationship to menstrual disorders, 387 Rosenfield, 1980, Amenorrhea related to progestin excess in congenital adrenal hyperplasia, Obstetrics and Gynecology, 56, 208 Rosenfield, 1980, Pubertal presentation of congenital Δ5-3β-hydroxysteroid dehydrogenase deficiency, Journal of Clinical Endocrinology and Metabolism, 51, 345, 10.1210/jcem-51-2-345 Russell, 1994, Mutation in the human gene for 3β-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss, Journal of Molecular Endocrinology, 12, 225, 10.1677/jme.0.0120225 Sakkal-Alkaddour, 1996, Studies of 3β-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased ACTH stimulated Δ5 steroid levels, Journal of Clinical Endocrinology and Metabolism, 81, 3961, 10.1210/jc.81.11.3961 Sanchez, 1994, Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia, Human Molecular Genetics, 3, 1639, 10.1093/hmg/3.9.1639 Sanchez, 1994, Detection and functional characterization of the novel missense mutation Y254D in type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene of a female patient with non salt-losing 3β-HSD deficiency, Journal of Clinical Endocrinology and Metabolism, 78, 561, 10.1210/jc.78.3.561 Schneider, 1975, Persistent testicular Δ5-isomerase-3β-hydroxysteroid dehydrogenase (Δ5-3β-HSD) deficiency in the Δ5-3β-HSD form of congenital adrenal hyperplasia, Journal of Clinical Investigation, 55, 681, 10.1172/JCI107977 Schwarz, 1995, Rapid occurrence of thelarche and menarche induced by hydrocortisone in a teenage girl with previously untreated congenital adrenal hyperplasia, European Journal of Pediatrics, 154, 617, 10.1007/BF02079062 Siegel, 1990, ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism, New England Journal of Medicine, 323, 849, 10.1056/NEJM199009273231301 Simard, 1993, Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency, Molecular Endocrinology, 7, 716, 10.1210/me.7.5.716 Simard, 1994, Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase gene (HSD 3β2) in three male patients of Afghan/Pakistani origin, Human Molecular Genetics, 3, 327, 10.1093/hmg/3.2.327 Speiser, 1985, High frequency of nonclassic steroid 21-hydroxylase deficiency, American Journal of Human Genetics, 37, 650 Speiser, 1992, Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Journal of Clinical 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represents a potential nonclassic steroid 21-hydroxylase deficiency allele, Molecular Endocrinology, 5, 685, 10.1210/mend-5-5-685 Wedell, 1994, Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation, Journal of Clinical Endocrinology and Metabolism, 78, 1145, 10.1210/jc.78.5.1145 White, 1985, Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man, Biochemistry, 82, 1089 Zachmann, 1979, 3β-hydroxysteroid dehydrogenase deficiency follow-up study in a girl with pubertal bone age, Hormone Research, 11, 292, 10.1159/000179067 Zerah, 1990, Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study, Journal of Clinical Endocrinology and Metabolism, 70, 1662, 10.1210/jcem-70-6-1662 Zerah, 1994, No evidence of mutations in the genes for type I and type II 3β-hydroxysteroid dehydrogenase (3β-HSD) in nonclassical 3β-HSD deficiency, Journal of Clinical Endocrinology and Metabolism, 79, 1811, 10.1210/jc.79.6.1811 Zhang, 1996, A new compound heterozygous frameshift mutation in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene causes salt-wasting 3β-HSD deficiency congenital adrenal hyperplasia, Journal of Clinical Endocrinology and Metabolism, 81, 291, 10.1210/jc.81.1.291