45
Views
2
CrossRef citations to date
0
Altmetric
Special Report

Nonclassic congenital adrenal hyperplasia and the heterozygote carrier

, &
Pages 239-246 | Published online: 10 Jan 2014

References

  • Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am. J. Hum. Genet. 37(4), 650–667 (1985).
  • Knochenhauer ES, Key TJ, Kahsar-Miller M, Waggoner W, Boots LR, Azziz R. Prevalence of the polycystic ovary syndrome in unselected black and white women of the Southeastern United States: a prospective study. J. Clin. Endocrinol. Metab. 83(9), 3078–3082 (1998).
  • Asunción M, Calvo RM, San Millán JL, Sancho J, Avila S, Escobar-Morreale HF. A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain. J. Clin. Endocrinol. Metab. 85(7), 2434–2438 (2000).
  • Witchel SF, Azziz R. Nonclassic congenital adrenal hyperplasia. Int. J. Pediatr. Endocrinol. doi:10.1155/2010/625105 (2010) (Epub ahead of print).
  • Trapp CM, Oberfield SE. Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update. Steroids 77(4), 342–346 (2012).
  • Lee HH, Kuo JM, Chao HT et al. Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese. J. Clin. Endocrinol. Metab. 85(2), 597–600 (2000).
  • Witchel SF, Lee PA, Suda-Hartman M, Trucco M, Hoffman EP. Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 82(7), 2097–2101 (1997).
  • New MI, Wilson RC. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc. Natl Acad. Sci. USA 96(22), 12790–12797 (1999).
  • White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21(3), 245–291 (2000).
  • New MI, Lorenzen F, Pang S, Gunczler P, Dupont B, Levine LS. ‘Acquired’ adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 48(2), 356–359 (1979).
  • New MI. Nonclassical 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 91(11), 4205–4214 (2006).
  • Kater CE, Biglieri EG, Wajchenberg B. Effects of continued adrenocorticotropin stimulation on the mineralocorticoid hormones in classical and nonclassical simple virilizing types of 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 60(6), 1057–1062 (1985).
  • Temeck JW, Pang SY, Nelson C, New MI. Genetic defects of steroidogenesis in premature pubarche. J. Clin. Endocrinol. Metab. 64(3), 609–617 (1987).
  • Kohn B, Levine LS, Pollack MS et al. Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 55(5), 817–827 (1982).
  • Marynick SP, Chakmakjian ZH, McCaffree DL, Herndon JH Jr. Androgen excess in cystic acne. N. Engl. J. Med. 308(17), 981–986 (1983).
  • Jääskeläinen J, Voutilainen R. Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height. Pediatr. Res. 41(1), 30–33 (1997).
  • Rosenwaks Z, Lee PA, Jones GS, Migeon CJ, Wentz AC. An attenuated form of congenital virilizing adrenal hyperplasia. J. Clin. Endocrinol. Metab. 49(3), 335–339 (1979).
  • Levine LS, Dupont B, Lorenzen F et al. Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 51(6), 1316–1324 (1980).
  • Dewailly D, Vantyghem-Haudiquet MC, Sainsard C et al. Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 63(2), 418–423 (1986).
  • Chrousos GP, Loriaux DL, Sherins RJ, Cutler GB Jr. Unilateral testicular enlargement resulting from inapparent 21-hydroxylase deficiency. J. Urol. 126(1), 127–128 (1981).
  • Cabrera MS, Vogiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 86(7), 3070–3078 (2001).
  • Ferriman D, Gallwey JD. Clinical assessment of body hair growth in women. J. Clin. Endocrinol. Metab. 21, 1440–1447 (1961).
  • Goodman NF, Bledsoe MB, Cobin RH et al.; American Association of Clinical Endocrinologists Hyperandrogenic Disorders Task Force. American Association of Clinical Endocrinologists medical guidelines for the clinical practice for the diagnosis and treatment of hyperandrogenic disorders. Endocr. Pract. 7(2), 120–134 (2001).
  • Pall M, Azziz R, Beires J, Pignatelli D. The phenotype of hirsute women: a comparison of polycystic ovary syndrome and 21-hydroxylase-deficient nonclassic adrenal hyperplasia. Fertil. Steril. 94(2), 684–689 (2010).
  • Azziz R, Hincapie LA, Knochenhauer ES, Dewailly D, Fox L, Boots LR. Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study. Fertil. Steril. 72(5), 915–925 (1999).
  • Glintborg D, Hermann AP, Brusgaard K, Hangaard J, Hagen C, Andersen M. Significantly higher adrenocorticotropin-stimulated cortisol and 17-hydroxyprogesterone levels in 337 consecutive, premenopausal, Caucasian, hirsute patients compared with healthy controls. J. Clin. Endocrinol. Metab. 90(3), 1347–1353 (2005).
  • Kronenberg HM, Melmed S, Larsen PR, Polonsky KS. Section IV – the Adrenal Cortex. In: Williams Textbook of Endocrinology. 486–487 (2008).
  • Escobar-Morreale HF, San Millán JL, Smith RR, Sancho J, Witchel SF. The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations. Fertil. Steril. 72(4), 629–638 (1999).
  • Napolitano E, Manieri C, Restivo F et al. Correlation between genotype and hormonal levels in heterozygous mutation carriers and noncarriers of 21-hydroxylase deficiency. J. Endocrinol. Invest. 34(7), 498–501 (2011).
  • Witchel SF, Lee PA. Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests. Am. J. Med. Genet. 76(4), 337–342 (1998).
  • Bachega TA, Brenlha EM, Billerbeck AE et al. Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations. J. Clin. Endocrinol. Metab. 87(2), 786–790 (2002).
  • Dolzan V, Prezelj J, Vidan-Jeras B, Breskvar K. Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status. Eur. J. Endocrinol. 141(2), 132–139 (1999).
  • Bidet M, Bellanné-Chantelot C, Galand-Portier MB et al. Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. J. Clin. Endocrinol. Metab. 94(5), 1570–1578 (2009).
  • Costa-Barbosa FA, Tonetto-Fernandes VF, Carvalho VM et al. Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency. Clin. Endocrinol. (Oxf.) 73, 700–706 (2010).
  • Speiser PW, Azziz R, Baskin LS et al.; Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline. J. Clin. Endocrinol. Metab. 95(9), 4133–4160 (2010).
  • Leyden J, Shalita A, Hordinsky M, Swinyer L, Stanczyk FZ, Weber ME. Efficacy of a low-dose oral contraceptive containing 20 microg of ethinyl estradiol and 100 microg of levonorgestrel for the treatment of moderate acne: a randomized, placebo-controlled trial. J. Am. Acad. Dermatol. 47(3), 399–409 (2002).
  • Thiboutot D, Archer DF, Lemay A, Washenik K, Roberts J, Harrison DD. A randomized, controlled trial of a low-dose contraceptive containing 20 microg of ethinyl estradiol and 100 microg of levonorgestrel for acne treatment. Fertil. Steril. 76(3), 461–468 (2001).
  • Martin KA, Chang RJ, Ehrmann DA et al. Evaluation and treatment of hirsutism in premenopausal women: an endocrine society clinical practice guideline. J. Clin. Endocrinol. Metab. 93(4), 1105–1120 (2008).
  • Brown J, Farquhar C, Lee O, Toomath R, Jepson RG. Spironolactone versus placebo or in combination with steroids for hirsutism and/or acne. Cochrane Database Syst. Rev. 2, CD000194 (2009).
  • Swiglo BA, Cosma M, Flynn DN et al. Clinical review: anti-androgens for the treatment of hirsutism: a systematic review and metaanalyses of randomized controlled trials. J. Clin. Endocrinol. Metab. 93(4), 1153–1160 (2008).
  • Spritzer P, Billaud L, Thalabard JC et al. Cyproterone acetate versus hydrocortisone treatment in late-onset adrenal hyperplasia. J. Clin. Endocrinol. Metab. 70(3), 642–646 (1990).
  • Townsend KA, Marlowe KF. Relative safety and efficacy of finasteride for treatment of hirsutism. Ann. Pharmacother. 38(6), 1070–1073 (2004).
  • Frank-Raue K, Junga G, Raue F, Vecsei P, Ziegler R. Therapy of hirsutism in females with adrenal enzyme defects of steroid hormone biosynthesis: comparison of dexamethasone with cyproterone acetate. Klin. Wochenschr. 68(12), 597–601 (1990).
  • Azziz R, Sanchez LA, Knochenhauer ES et al. Androgen excess in women: experience with over 1000 consecutive patients. J. Clin. Endocrinol. Metab. 89(2), 453–462 (2004).
  • Feldman S, Billaud L, Thalabard JC et al. Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 74(3), 635–639 (1992).
  • Jia XC, Kessel B, Welsh TH Jr, Hsueh AJ. Androgen inhibition of follicle-stimulating hormone-stimulated luteinizing hormone receptor formation in cultured rat granulosa cells. Endocrinology 117(1), 13–22 (1985).
  • Bidet M, Bellanné-Chantelot C, Galand-Portier MB et al. Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 95(3), 1182–1190 (2010).
  • Deneux C, Tardy V, Dib A et al. Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 86(1), 207–213 (2001).
  • Speiser PW, New MI. Genotype and hormonal phenotype in nonclassical 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 64(1), 86–91 (1987).
  • Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol. Endocrinol. 5(5), 685–692 (1991).
  • Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC. R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol. Endocrinol. 6(8), 1318–1322 (1992).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.