Analytical Support for the Detection and Treatment of Congenital Adrenal Hyperplasia

de Crecchio L. Sopra un caso di apparenze virile in una donna. Morgagni 1865; 7: 1951.

De Graaf R. De mulierum organis generationi inservientibus tractatus novus. 1672.

Jocelyn HD Setchell BP . Renier de Graaf on the human reproductive organs. J Reprod Fertil 1972; (suppl 17): 1–222.

Jamieson A Connell JMC Fraser R. Glucocorticoid-suppressible hyperaldosteronism: From confusion to conclusion [Commentary]. J Mol Endocrinol 1993; 10: 3–5.

Pang S Wallace AM Hofman L Thuline HC Dorche C Lyon ICT Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81: 866–74.

Pang S Clark A. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder 21-hydroxylase deficiency. Screening 1993; 2: 105–39.

Wallace AM Beastall GH Cook BA Currie AJ Ross AM Kennedy R Neonatal screening for congenital adrenal hyperplasia: A programme based on a novel direct radoimmunoassay for 17-hydroxyprogesterone in blood spots. J Endocrinol 1986; 108: 299–308.

Kelnar CJH . Congenital adrenal hyperplasia (CAH)-the place for prenatal treatment and neonatal screening. Early Hum Dev 1993; 35: 81–90.

New MI Lorenzen F Lerner AJ Kohb B Oberfield SE Pollack MS 21-hydroxylase deficiency: Hormonal reference data. J Clin Endocrinol Metab 1983; 57: 320–6.

Azziz R Zacur HA . 21-hydroxylase deficiency in female hyperandrogenism: Screening and diagnosis. J Clin Endocrinol Metab 1989; 69: 577–84.

Rosier A Leiberman E. Enzymatic defects of steroidogenesis: 11β-hydroxylase deficiency congenital adrenal hyperplasia. Pediatr Adolesc Endocr 1984; 13: 47–71.

Dimic M Brklacic L Speiser PW Wood E Crawford C Plavsic V An update on the frequency of classical deficiency of adrenal 21-hydroxylase in the Yugoslav population. Acta Endocrinol 1990; 122: 703–10.

Honour JW Rumsby G. Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Steroid Biochem Mol Biol 1993; 45: 69–74.

Zerah M Ueshiba H Wood E Speiser PW Crawford C McDonald T Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: A small sample study. J Clin Endocrinol Metab 1990; 70: 1662–7.

Brook CGD . The management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 1990; 33: 559–67.

Cutler GB Laue L. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1990; 323: 1806–13.

Wilkins L Lewis RA Klein R Gardner LI Crigler JF Rosenberg E Treatment of congenital adrenal hyperplasia with cortisone. J Clin Endocrinol Metab 1951; 11: 1–25.

Gray CH Baron DN Brooks RV James VH . A critical appraisal of a method of estimating urinary 17-oxosteroids and total 17-oxogenic steroids. Medical Research Council memorandum. Lancet 1969; i: 124–7.

Rudd BT . Urinary 17-oxogenic and 17-oxosteroids. A case for deletion from the clinical chemistry repertoire. Ann Clin Biochem 1983; 20: 65–71.

Clayton BE Edwards RWH Makin HLJ . Congenital adrenal hyperplasia and other conditions associated with a raised urinary steroid 11-oxygenation index. J Endocrinol 1971; 50: 251–65.

Honour J. Biochemical aspects of congenital adrenal hyperplasia. J Inher Metab Dis 1986; 9 (Suppl 1): 124–34.

Pinzani P Magini A Franceschetti F Messeri G Pazzagli M. A chemiluminescent method for the measurement of pregnanetriol-3-alpha-glucuronide in human diluted urine. J Biolumin Chemilumin 1989; 4: 580–6.

Barnes ND Atherden SM . Diagnosis of congenital adrenal hyperplasia by measurement of 17-OHP. Arch Dis Child 1971; 47: 62–5.

Gosling JP . A decade of development in immunoassay methodology. Clin Chem 1990; 36: 1408–27.

Murphy JF Joyce BG Dyas J Hughes IA . Plasma 17-hydroxyprogesterone in ill newborn infants. Arch Dis Child 1980; 58: 532–4.

Berry J Betts P Wood PJ . The interpretation of blood spot 17α-hydroxyprogesterone levels in term and pre-term neonates. Ann Clin Biochem 1986; 23: 546–51.

Wallace AM Beesley J Thomson M Giles CA Ross AM Taylor NF . Adrenal status during the first month of life in mature and premature human infants. J Endocrinol 1987; 112: 473–80.

Wong T Shackleton CHL Covey TR Ellis G. Identification of the steroids in neonatal plasma that interfere with 17α-hydroxyprogesterone radioimmunoassays. Clin Chem 1992; 38: 1830–7.

Wudy SA Wachter UA Schwarz HP Shackleton CHL Homoki J Teller WM . Quantitation of 17-hydroxyprogesterone (17-OHP) by gas chromatography/isotope dilution mass spectrometry (GC/IDMS): A reference method suitable for routine use. [Abstract 67] Pediatr Research 1993; 33; S14.

Manlimos FS Abraham GE . Chromatographic purification of tritiated steroids prior to use of radioimmunoassay. Anal Lett 1975; 8: 403–5.

Ueshiba H Segawa M Hayashi T Miyachi Y Irie M. Serum profiles of steroid hormones in patients with Cushing's syndrome determined by a new HPLC/RIA method. Clin Chem 1991; 37: 1329–33.

Cook B Beastall GH . Measurement of steroid hormone concentrations in blood, urine and tissues. In: Green B Leake RE , eds. Steroid Hormones: A Practical Approach. Oxford: IRL Press, 1987: 1–65.

Dyas J Read GF Guha-Maulik T Hughes IA Riad-Fahmy D. A rapid assay for 17αOH-progesterone in plasma, saliva and amniotic fluid using a magnetisable solid-phase antiserum. Ann Clin Biochem 1984; 21: 417–24.

Robinson JA Dyas J Hughes IA Riad-Fahmy D. Radioimmunoassay of blood-spot 17α-hydroxyprogesterone in the management of congenital adrenal hyperplasia. Ann Clin Biochem 1987; 24: 58–65.

Makela SK Ellis G. Nonspecificity of a direct 17α-hydroxyprogesterone radioimmunoassay kit when used with samples from neonates. Clin Chem 1988; 34: 2070–5.

Yeo KHJ Whitau WJ . ¹²⁵I Radioimmunoassay for 17a-hydroxyprogesterone in plasma, for diagnosing and managing congenital adrenal hyperplasia. Clin Chem 1985; 31: 454–6.

El-Gamal BA Landon J Abuknesha RA Gallagher G Perry LA . The production and characterisation of antisera to 17-hydroxyprogesterone. J Steroid Biochem 1987; 26: 375–82.

Erlanger BF Borek F Beiser SM Lieberman S. Steroid protein conjugates of bovine serum albumin with testosterone and with cortisone. J Biol Chem 1957; 228: 713–27.

Sawada J-I Terao T Itoh S-I Maeda M Tsuji A Hosoda H Production and characterization of monoclonal antibodies to 17α-hydroxyprogesterone. J Steroid Biochem 1987; 28: 405–10.

Corrie JET . ¹²⁵Iodinated tracers for steroid RIA: The problem of bridge recognition. In: Hunter WM Corrie JET , eds. Immunoassays for Clinical Chemistry. London: Churchill Livingstone, 1983: 353–7.

Webb R Baxter G McBridge D Norblom GD Shaw MPK . The measurement of testosterone and oestradiol-17β using iodinated tracers and incorporating an affinity chromatography extraction procedure. J Steroid Biochem 1985; 23: 1043–51.

Thomson S Wallace AM Cook B. A ¹²⁵I-radioimmunoassay for measuring androstenedione in serum and in blood-spot samples from neonates. Clin Chem 1989; 35: 1706–12.

Wallace AM . Novel immunoassays for clinically important hormones based on microencapsulated antibodies. In: Whateley TL , ed. Microencapsulation of Drugs. Basle: Harwood Academic publishers, 1992: 243–55.

El-Gamal BA Eremin SA Smith DS Landon J. Development of a direct fluorimmunoassay for serum levels of 17-hydroxyprogesterone. Ann Clin Biochem 1988; 25: 35–41.

Ratcliffe WA . Direct (non-extraction) serum assays for steroids. In: Hunter WM Corrie JET , eds. Immunoassays for Clinical Chemistry. London: Churchill Livingstone, 1983: 401–9.

Read GF Walker RF Ford P Fahmy D. Riad . External quality assessment in small schemes: The case of 17-hydroxyprogesterone [Letter]. Ann Clin Biochem 1990; 27: 276–8.

Read GF Riad-Fahmy D. Direct assays for adrenal steroids in neonates [Letter]. Ann Clin Biochem 1992; 29: 117–8.

Bodlaender P. Reply to: External quality assessment in small schemes: The case for 17α-hydroxyprogesterone [Letter]. Ann Clin Biochem 1990; 27: 78.

Wallace AM Beastall GH . Direct assays for adrenal steroids in neonates [Letter]. Ann Clin Biochem 1991; 28: 113.

Bodlaender P. Reply to: Direct assays for adrenal steroids in neonates [Letter]. Ann Clin Biochem 1991; 28: 422.

Wallace AM Beastall GH . Direct assays for adrenal steroids in neonates [Authors’ reply to Letter]. Ann Clin Biochem 1991; 28: 423.

Shimizu K Hara T Yamaga N Kohara H Nojiima K. Determination of 17-hydroxyprogesterone in plasma by gas-chromatography-mass-spectrometry with high resolution selected ion-monitoring. J Chromatogr 1988; 432: 21–8.

Walfish PG . Screening for neonatal hypothyroidism using a dried capillary blood method: Observations on methodological factors, selection criteria, and preliminary results. In: Fisher DA Burrow GN , eds. Perinatal Thyroid Physiology and Disease. New York: Raven Press, 1975: 239–48.

Riad-Fahmy D Read GF Walker RF Griffiths K. Steroids in saliva for assessing endocrine function. Endocr Rev 1982; 3: 367–95.

Chearskul S. Direct radioimmunoassays of 17-hydroxyprogesterone and cortisol in saliva [Dissertation]. Glasgow: University of Glasgow, 1985.

Walker RF Hughes IA Riad-Fahmy D. Salivary 17α-hydroxyprogesterone in congenital adrenal hyperplasia. Clin Endocrinol 1979; 11: 631–7.

Otten BJ Wellen JJ Rijken JCW Stoelinga GBA Benraad TJ . Salivary and plasma androstenedione and 17-hydroxyprogesterone levels in congenital adrenal hyperplasia. J Clin Endocrinol Metab 1983; 57: 1150–4.

Nahoul KK Scholler R. Comparison of saliva and plasma 17-hydroxyprogesterone time-course response to hCG administration in normal men. J Steroid Biochem 1987; 26: 251–7.

Frasier SD Thorneycroft IH Weiss BA Horton R. Elevated amniotic fluid concentration of 17α-hydroxyprogesterone in congenital adrenal hyperplasia. J Pediatr 1975; 86: 310–12.

Forest MG . Pitfalls in prenatal diagnosis of 21-hydroxylase deficiency by amniotic fluid steroid analysis? In: New Ml , ed. Congenital Adrenal Hyperplasia. Ann NY Acad Sci 1985; 45: 130–47.

Plavsic V Rogic D Dumic M Ille J Brkljacic L Latin V. Interferences with determination of 17-hydroxyprogesterone in amniotic fluid [Letter]. Clin Chem 1991; 37: 2154–5.

Pang S Hotchkiss J Drash AL Levine LS New MI . Microfilter paper method for 17α-hydroxyprogesterone radioimmunoassay; its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977; 45: 1003–8.

Cacciari E Balsamo A Cassio A Piazzie S Bernadi F. Neonatal screening for congenital adrenal hyperplasia. Arch Dis Child 1983; 58: 803–6.

Shimozawa K Saisho S Saito N Yata J Igarashi Y Hikita Y A neonatal mass-screening for congenital adrenal hyperplasia in Japan. Acta Endocr (Khb) 1984; 107: 513–18.

Naruse H Suzuki E Irie M Tsuji A Takasugi N Fukushi M Neonatal screening for congenital adrenal hyperplasia in Japan. In: New MI , ed. Congenital Adrenal Hyperplasia. Ann NY Acad Sci 1986; 458: 103–10.

Gonzalez RR Maentausta O Solyom J Vihko R. Direct solid-phase time-resolved fluorimmunoassay of 17α-hydroxyprogesterone in serum and dried blood spots on filter paper. Clin Chem 1990; 36: 1667–72.

Xu Y-Y Pettersson K Blomberg K Hemmila I Mikola H Lovgren T. Simultaneous quadruple-label fluorometric immunoassay of thyroid-stimulating hormone, 17α-hydroxyprogesterone, immunoreactive trypsin, and creatine kinase MM isoenzyme in dried blood spots. Clin Chem 1992; 38: 2038–43.

Price DA Close GC Fielding BA . Age of appearance of circadian rhythm in salivary cortisol in infancy. Arch Dis Child 1983; 58: 454–6.

Solyom I. Diurnal variation in blood 17-hydroxyprogesterone concentrations in untreated congenital adrenal hyperplasia. Arch Dis Child 1984; 59: 743–7.

Young MC Robinson JA Read GF Riad-Fahmy D Hughes IA . 17-OH progesterone rhythms in congenital adrenal hyperplasia. Arch Dis Child 1988; 63: 617–23.

Pincus DR Kelnar CJH Wallace AM . 17-hydroxyprogesterone rhythms and growth velocity in congenital adrenal hyperplasia. J Paediatr Child Health 1993; 29: 302–4.

Korth-Schutz S Virdis R Saenger P Chow DM Levine LS New MI . Serum androgens as a continuing index of adequacy of treatment of congenital adrenal hyperplasia. J Clin Endocrinol Metab 1978; 46: 452–8.

Lee PA Urban MD Gutai JP Migeon CJ . Plasma progesterone, 17-hydroxyprogesterone, androstenedione and testosterone in prepubertal, pubertal and adult subjects with congenital virilizing adrenal hyperplasia as indicators of adrenal suppression. Horm Res 1980; 13: 347–57.

Meyer WJ Gutai JP Keenan BS . A chronobiological approach to the treatment of congenital adrenal hyperplasia. In: Lee PA Plotnick LP Kowarski AA Migeon CJ , eds. Congenital Adrenal Hyperplasia. Baltimore: University Park Press, 1977: 203–15.

Goodall AB James VHT . Observations on the nature and origin of conjugated androstenedione in human plasma. J Steroid Biochem 1981; 14: 465–71.

Ismail AAA Astley P Cawood M Short F Wakelin K Wheeler M. Testosterone assays: Guidelines for the provision of a clinical biochemistry service. Ann Clin Biochem 1986; 23: 135–45.

Ismail AAA Astley P Burr WA Cawood M Short F Wakelin F The role of testosterone measurement in the investigation of androgen disorders. Ann Clin Biochem 1986; 23: 113–34.

Wood P Groom G Moore A Ratcliffe W Selby C. Progesterone assays: Guidelines for the provision of a clinical biochemistry service. Ann Clin Biochem 1985; 22: 1–24.

Moore A Aitken R Burke C Gaskell S Groom G Holder G Cortisol assays: Guidelines for the provision of a clinical biochemistry service. Ann Clin Biochem 1985; 22: 435–54.

Pang S Levine LS Chow DM Faiman C New MI . Serum androgen concentrations in neonates and young infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol 1979; 11: 575–84.

Pang S Levine LS Chow D Sagiani F Saenger P New MI . Dihydrotestosterone and its relationship to testosterone in infancy and childhood. J Clin Endocrinol Metab 1979; 48: 821–6.

Forest MG dePeretti E Bertrand J. Testicular and adrenal androgens and their binding to plasma proteins in the perinatal period. J Steroid Biochem 1980; 12: 25–36.

Pang S MacGillivray M Wang M Jeffries S Clark A Rosenthal I 3α-androstanediol glucuronide in virilizing congenital adrenal hyperplasia: A useful serum metabolic marker of integrated adrenal androgen secretion. J Clin Endocrinol Metab 1991; 73: 166–74.

Brotherton J Rothbart B. Serum cortisol in adrenal hirsutism as estimated by five different methods. J Steroid Biochem 1990; 36: 641–9.

Read GF Robinson JA Premawardhana LDKE Riad-Fahmy D. Are plasma progesterone determinations a reliable indicator of ovulation in women with congenital adrenal hyperplasia? [Abstract]. J Endocrinol 1992; suppl 132: 152.

Dillon MJ Ryness JM . Plasma renin activity and aldosterone concentration in children. BMJ 1975; iv: 316–19.

Sippell WG Dorr HG Blingmaier F Knorr D. Plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol and cortisone during infancy and childhood. Pediatr Res 1980; 14: 39–46.

Forest MG de Peretti E Lecoq A Cadillon E Zabot MT Thoulon JM . Determination of 14 steroid hormones in amniotic fluid of mid-pregnancy. J Clin Endocrinol Metab 1980; 51: 818–23.

Sealey JE . Plasma renin activity and plasma prorenin assays. Clin Chem 1991; 37: 1811–9.

Bertrand J Rappaport R Sizonenko PC . Assessment of endocrine function. In: Bertrand J Rappaport R Sizonenko PC , eds. Pediatric Endocrinology 2nd edn, chap 47. Baltimore: Williams & Wilkins, 1993: 658–81.

Hughes IA Wilton A Lole CA Gray OP . Continuing need for mineralocorticoid therapy in salt losing congenital adrenal hyperplasia. Arch Dis Child 1979; 54: 350–5.

Simon D Hartmann DJ Badouaille G Caillot G Guyenne T-T Corvol P Two-site direct immunoassay specific for active renin. Clin Chem 1992; 38: 1959–62.

Ellis RA Al-Sadie R Seth J. Pilot UK EQAS for PTH, ACTH and Calcitonin. Commun Lab Med 1992; 1: 29–32.

Shackleton CHL . Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research. J Steroid Biochem Mol Biol 1993; 45: 127–40.

Shackleton CHL Medink J Lawson AM . Steroid and bile acid analyses. In: McEwen C , ed. Mass Spectrometry in Biological Materials. New York: Marcel Dekker, 1990: 297–377.

Rumsby G Honour JW Rodeck C. Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the 21-hydroxylase gene. Clin Endocrinol 1993; 38: 421–5.

Wenham PR . DNA-based techniques in clinical biochemistry: A beginner's guide to theory and practice. Ann Clin Biochem 1992; 29: 598–624.

Strachan T. In: Read AJ Brown T , eds. The Human Genome. Oxford: BIOS Scientific Publishers, 1992.

Forest MG Beteul H David M. Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Update 88 of the French multicentre study. Endocr Res 1989; 15: 277–301.

Speiser PW Laforgia N Kato K Pareira J Khan R Yang SY First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency). J Clin Endocrinol Metab 1990; 70: 838–48.

Pang S Clark A Dolan L Schulman D. Hormonal monitoring and side effects of prenatal dexamethasone treatment for 21-hydroxylase deficiency congenital adrenal hyperplasia [Abstract 9]. Pediatr Res 1993; 33 (suppl 3).

White PC Dupont J New MI Lieberman E Hochberg Z Rosier A. A mutation in CYP11B1 (Arg-488-His) associated with steroid 11β-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest 1991; 87: 1664–7.

Helmberg A Ausserer B Kofler R. Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency. J Clin Endocrinol Metab 1992; 75: 1278–81.

Rheaume E Simard J Morel Y Mebarki F Zachmann M Forest MG Congenital adrenal hyperplasia due to point mutations in the type II 3β-hydroxysteroid dehydrogenase gene. Nature Genetics 1992; 1: 239–45.

Russell AJ Wallace AM Forest MG Donaldson MDC Edwards CRW Sutcliffe RG . Mutation in the gene for 3β-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. J Mol Endocrinol 1994; 12: 225–37.

Mendonca BB Russell AJ Vasconcelos-Leite M Arnhold IJP Bloise W Wacjchenberg BL Nicolau W Sutcliffe RG Wallace AM . Mutation in 3β-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and precocious pubarche or cryptic expression in females. J Mol Endocrinol 1994; 12: 119–22.

Anderson WF . Human gene therapy. Science 1992; 256: 808–13.

Ekins RP Edwards PR . The precision profile: Its use in assay design, assessment and quality control. In: Hunter WM Corrie JET , eds. Immunoassays for Clinical Chemistry. Edinburgh: Churchill Livingstone, 1983: 76–105.

Multi-author. The proceedings of the EQAS '92 participants meeting. Commun Lab Med 1992; 1 (3).