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Congenital Adrenal Hyperplasia

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Book cover Urology in Childhood

Part of the book series: Handbuch der Urologie / Encyclopedia of Urology ((1020,volume 15 / 1))

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Abstract

Congenital adrenocortical hyperplasia is a complex endocrine disorder of importance to the paediatric urologist because it produces an intersex state in the female and precocious virilisation in the male. The excessive secretion of androgens by the foetal adrenal cortex commences in early foetal life at some time after the differentiation of the internal genitalia from the Wolffian and Mullerian duct systems, but before complete differentiation of the external genitalia. Varying degrees of virilisation are present in the female at birth; the male does not at this stage exhibit any striking abnormality, though in both sexes there will be progressive virilisation of the untreated case.

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References

  • Atherden, S. M., Barnes, N. D., Grant, D. B.: Circadian variation in plasma 17-hydroxyprogesterone in patients with congenital adrenal hyperplasia. Arch. Dis. Childh. 47, 602 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Barnes, N. D., Atherden, S. M.: Diagnosis of congenital adrenal hyperplasia by measurement of plasma 17-hydroxyprogesterone. Arch. Dis. Childh. 47, 62 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Bergstrand, C. J.: Growth in congenital adrenal hyperplasia. Acta paediat (Uppsala) 55, 463 (1966).

    Article  CAS  Google Scholar 

  • Biglieri, E. G., Harron, M. A., Brust, N.: 17-Hydroxylation Deficiency in Man. J. clin. Invest. 45, 1946 (1966).

    Article  PubMed  CAS  Google Scholar 

  • Blizzard, K. M., Liddle, G. W., Migeon, C. J., Wilkins, L.: Aldosterone secretion in virilizing adrenal hyperplasia. J. clin. Invest. 38, 1442 (1959).

    Article  PubMed  CAS  Google Scholar 

  • Bongiovanni, A. M.: Unusual steroid pattern in congenital adrenal hyperplasia: Deficiency of 38-hydroxydehydrogenase. J. clin. Endocr. 21, 860 (1961).

    Article  CAS  Google Scholar 

  • Bongiovanni, A. M.: The adrenogenital syndrome with deficiency of 3ß-hydroxysteroid dehydrogenase. J. clin. Invest. 41, 2086 (1962).

    Article  PubMed  CAS  Google Scholar 

  • Bongiovanni, A. M., Eberlein, W. R.: Steroidal biogenesis in congenital adrenal hyperplasia. Pediatrics 21, 661 (1958).

    PubMed  CAS  Google Scholar 

  • Bricaire, H., Luton, J. P., Laudat, P., Legrand, J. C., Turpin, G., Corval, P., Lemmer, M.: A new male pseudohermaphroditism associated with hypertension due to a block in 17α-hydroxylation. J. clin. Endocr. 35, 67 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Bryan, G. T., Kliman, B., Bartter, F. C.: Impaired aldosterone production in “salt-losing” congenital hyperplasia (Abst.). Clin. Res. 10, 233 (1962).

    Google Scholar 

  • Bryan, G. T., Kliman, B., Bartter, F. C.: Impaired aldosterone production in “salt-losing” congenital adrenal hyperplasia. J. clin. Invest. 44, 957 (1965).

    Article  PubMed  CAS  Google Scholar 

  • Camacho, A. M., Migeon, C. J.: Testosterone excretion and its origin in congenital adrenal hyperplasia. Society for Paediatric Research, Atlantic City, N.J. 1963 (Abst.).

    Google Scholar 

  • Camacho, A. M., Migeon, C. J.: Testosterone excretion and production rate in normal adults and in patients with congenital adrenal hyperplasia. J. clin. Endocr. 26, 893 (1966).

    Article  PubMed  CAS  Google Scholar 

  • Chaptal, J., Jean, R., Cristol, P., Bonnet, H.: Augmentation des 17-hydroxycorticoides plasmatiques et urinaires dans une cas d’hyperplasie congenitale des surrenales sans hypertension arterielle: identification des Steroides anormaux relevant d’un deficit de la 11-betahydroxylase. Ann. Endocr. (Paris) 20, 323 (1959).

    CAS  Google Scholar 

  • Childs, B., Grumbach, M. M., van Wyck, J. J.: Virilizing adrenal hyperplasia. A genetic and hormonal study. J. clin. Invest. 35, 213 (1956).

    Article  PubMed  CAS  Google Scholar 

  • Conly, P. W., Sandberg, D. H., Cleveland, W. W.: Steroid metabolism in premature pubarche and virilizing adrenal hyperplasia. J. Pediat. 71, 506 (1967).

    Article  PubMed  CAS  Google Scholar 

  • Dahl, V., Rivarola, M. A., Bergada, C.: Aldosterone secretion rate in the simple virilising form of congenital adrenal hyperplasia. J. clin. Endocr. 34, 661 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Degenhart, H. J., Visser, H. K. A., Wilmink, R., Frankena, L.: Production and excretion of testosterone in children with congenital adrenal hyperplasia and precocious puberty. Acta endocr. (Købh.) 51, Suppl. 100 (1965a).

    Google Scholar 

  • Degenhart, H. J., Visser, H. K. A., Wilmink, R., Wim, C.: Aldosterone and Cortisol secretion rates in infants and children with Congenital adrenae hyperplasia suggesting different 21-hydroxylation defects in “salt-losers” and “non salt-losers”. Acta endocr. (Kbh.) 48, 587 (1965b).

    PubMed  CAS  Google Scholar 

  • Dyrenfurth, I., Sybulski, S., Notchev, V., Beck, J. C., Venning, E. H.: Urinary corticosteroid excretion patterns in patients with adrenocortical dysfunction. J. clin. Endocr. 18, 391 (1958).

    Article  PubMed  CAS  Google Scholar 

  • Eberlein, W. R., Bongiovanni, A. M.: Congenital adrenal hyperplasia, with hypertension: Unusual steroid pattern in blood and urine. J. clin. Endocr. 15, 1531 (1955a).

    Article  PubMed  CAS  Google Scholar 

  • Eberlein, W. R., Bongiovanni, A. M.: Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia. J. biol. Chem. 223, 85 (1956).

    PubMed  CAS  Google Scholar 

  • Eberlein, W. R., Bongiovanni, A. M.: Steroid metabolism in the “salt-losing” form of congenital adrenal hyperplasia (Abst.). J. clin. Invest. 37, 889 (1958).

    Google Scholar 

  • Edwards, R. W. H., Makin, H. L. S., Barratt, T. M.: Steroid 11-oxygenated index: A rapid method for use in the diagnosis of congenital adrenal hyperplasia. J. Endocr. 30, 181 (1964).

    Article  PubMed  CAS  Google Scholar 

  • Gandy, H. M., Keutmann, E. H., Izzo, A. J.: Characterization of urinary steroids in adrenal hyperplasia: Isolation of metabolites of Cortisol, compound S and desoxycorticosterone from normotensive patients with adrenogenital syndrome. J. clin. Invest. 39, 364 (1960).

    Article  PubMed  CAS  Google Scholar 

  • Gans, F., Ser, J.: Normal pregnancy and delivery in pseudohermaphroditism. Acta endocr. (Kbh.) 30, 429 (1959).

    Google Scholar 

  • Garets, F. W., Asper, A. C., Smith, D. W.: Low chromatin frequency in untreated congenital adrenal hyperplasia. Lancet 1971 II, 343.

    Google Scholar 

  • George, J. M., Saucier, G., Bartter, F. C.: Is there a potent naturally-occurring sodium-losing steroid hormone ? J. clin. Endocr. 25, 621 (1965).

    Article  PubMed  CAS  Google Scholar 

  • Goldsmith, O., Solomon, D. H., Horton, R.: The 17-hydroxylase deficiency syndrome. New Engl. J. Med. 277, 643 (1967).

    Article  Google Scholar 

  • Hall, K., Hokfelt, B.: Clinical and steroid metabolic studies in four siblings with congenital virilizing adrenal hyperplasia. Acta Endocr. (Kbh.) 52, 535 (1966).

    PubMed  CAS  Google Scholar 

  • Hamilton, W., Bush, M. G.: Four clinical varieties of congenital adrenal hyperplasia. Arch. Dis. Childh. 39, 66 (1964).

    Article  PubMed  CAS  Google Scholar 

  • Hayek, A., Crawford, J. D., Bode, H. H.: Single dose dexamethasone in treatment of congenital adrenocortical hyperplasia. Metabolism 20, 897 (1971).

    Article  PubMed  CAS  Google Scholar 

  • Horton, R., Frasier, S. D.: Androstenedione and its conversion to plasma testosterone in congenital adrenal hyperplasia. J. clin. Invest. 46, 1003 (1967).

    Article  PubMed  CAS  Google Scholar 

  • Hubble, D.: Retardation of skeletal maturation and linear growth in the treatment of the simple virilizing form of congenital adrenal hyperplasia. Aust. paediat. J. 1, 84 (1965).

    Google Scholar 

  • Jacobs, D. R., van der Poll, J., Gabrilove, J. L., Soffer, L. J.: 17α-Hydroxyprogesterone—a salt-losing steroid: Relation to congenital adrenal hyperplasia. J. clin. Endocr. 21, 909 (1961).

    Article  PubMed  CAS  Google Scholar 

  • Kenny, F. M., Reynolds, J. W., Green, O. C.: 3ß-Hydroxydehydrogenase deficiency in a family with congenital adrenal hyperplasia. Pediatrics 48, 756 (1971).

    PubMed  CAS  Google Scholar 

  • Kowarski, A., Finkelstein, J. W., Spaulding, J. S., Holman, G. H., Migeon, C. J.: Aldosterone secretion rates (ASR) in congenital adrenal hyperplasia. Society for Pediatric Research, 34th Annual Meeting, 1964, Program and Abstract, p. 2.

    Google Scholar 

  • Kowarski, A., Finkelstein, J. W., Spaulding, J. S., Holman, G. H., Migeon, C. J.: Aldosterone secretion rate in Congenital adrenal hyperplasia. A discussion of the theories on the pathogenesis of the salt-losing form of the syndrome. J. clin. Invest. 44, 1505 (1965).

    Article  PubMed  CAS  Google Scholar 

  • Laron, Z.: Observations on a baby born to a mother with congenital adrenal hyperplasia. Amer. J. Dis. Child. 98, 162 (1959).

    CAS  Google Scholar 

  • Laron, Z., Pertzelen, A.: Comparative effects of 6α-fluoro-prednisolone, 6α-methyl-prednisolone and hydrocortisone on linear growth in congenital adrenal hyperplasia. J. Pediat. 73, 774 (1968).

    Article  PubMed  CAS  Google Scholar 

  • Mallin, S. R.: Congenital adrenal hyperplasia due to 17-Hydroxylase deficiency. Ann. intern. Med. 70, 69 (1969).

    PubMed  CAS  Google Scholar 

  • Mantero, F. B., Busnardo, A., Riondel, A., Veyrat, R., Austoni, M.: Hypertension artérielle alcalose hypokaliémique et pseudohermaphrodisme mâle par déficit en 17α-hydroxylase. Schweiz. med. Wschr. 101, 38 (1971).

    PubMed  CAS  Google Scholar 

  • Mason, A. S.: Pregnancy in an adrenal pseudohermaphrodite with cortisone. Brit. med. J. 1961 I, 1005.

    Google Scholar 

  • Mattox, V. R., Hayles, A. B., Salassa, R. M., Dion, F. R.: Urinary steroid patterns and loss of salt in congenital adrenal hyperplasia. J. clin. Endocr. 24, 517 (1964).

    Article  PubMed  CAS  Google Scholar 

  • Migeon, C. I.: Updating of the treatment of congenital adrenal hyperplasia. J. Pediat. 73, 805 (1968).

    Article  PubMed  CAS  Google Scholar 

  • Miura, K., Yoshinago, K., Goto, K., Katsushima, I., Maebashi, M., Demura, H., Iino, M., Demura, R., Torikat, T.: A case of glucocorticoid responsive hyperaldosteronism. J. clin. Endocr. 28, 1807 (1968).

    Article  PubMed  CAS  Google Scholar 

  • New, M. I.: Disorder of aldosterone secretion in childhood. Pediat. Clin. N. Amer. 13, 43 (1966).

    PubMed  CAS  Google Scholar 

  • New, M. L.: Male pseudohermaphroditism due to 17-hydroxylase deficiency. J. clin. Invest. 49, 1930 (1970).

    Article  PubMed  CAS  Google Scholar 

  • New, M. I., Miller, B., Peterson, R. E.: Excretion of aldosterone metabolites in normal children and in children with adrenal hyperplasia. Society for Pediatric Research, 34th Meeting, program and abstracts, 1964, p. 51.

    Google Scholar 

  • New, M. I., Miller, B., Peterson, R. E.: Aldosterone excretion in normal children and in children with adrenal hyperplasia. J. clin. Invest. 45, 412 (1966).

    Article  PubMed  CAS  Google Scholar 

  • New, M. I., Peterson, R. E.: A new form of congenital adrenal hyperplasia. J. Clin. Endocr. 27, 300 (1967).

    Article  PubMed  CAS  Google Scholar 

  • O’Doherty, N. J.: Lipoid adrenal hyperplasia. Guy’s Hosp. Rep. 113, 368 (1964).

    Google Scholar 

  • Prader, A.: Die Häufigkeit des kongenitalen androgenitalen syndroms. Helv. paediat. Acta 13, 426 (1958).

    PubMed  CAS  Google Scholar 

  • Prader, A., Gurtner, H. P.: Das Syndrom des Pseudohermaphroditismus masculinus bei kongenitaler Nebennierenrinden-Hyperplasie ohne Androgenüberproduktion (adrenaler Pseudohermaphroditismus masculinus). Helv. paediat. Acta 10, 397 (1955).

    PubMed  CAS  Google Scholar 

  • Prader, A., Siebenmann, R. D.: Nebenniereninusfficienz bei kongenitaler Lipoidhyperplasie der Nebennieren. Helv. paediat. Acta 12, 569 (1957).

    PubMed  CAS  Google Scholar 

  • Qazi, Q. H., Thompson, S. O.: Genital changes in congenital adrenal hyperplasia. J. Pediat. 80, 653 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Raiti, S., Newns, G. H.: Linear growth in treated congenital adrenal hyperplasia. Arch. Dis. Childh. 46, 376(1971).

    Article  PubMed  CAS  Google Scholar 

  • Rappaport, R., Cornu, G., Royer, P.: Statural growth in congenital adrenal hyperplasia treated with hydrocortisone. J. Pediat. 73, 760 (1968).

    Article  PubMed  CAS  Google Scholar 

  • Riccardi, V. M., Crawford, J. D., Cohen, J., Atkins, J.: Low chromatin frequency in congenital adrenal hyperplasia. Lancet 1972 I, 497.

    Article  Google Scholar 

  • Rivarola, M. A., Saez, J. M., Migeon, C. J.: Studies of androgens in patients with congenital adrenal hyperplasia. J. clin. Endocr. 27, 624 (1967).

    Article  PubMed  CAS  Google Scholar 

  • Sperling, M. A., Kenny, F. M., Scutt-Aine, J. C., Drash, A. L.: Linear growth and growth hormonal responsiveness in treated congenital adrenal hyperplasia. Amer. J. Dis. Child. 122, 408 (1971).

    PubMed  CAS  Google Scholar 

  • Sutherland, D. J. A., Ruse, J. L., Laidlaw, J. C.: Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Canad. med. Ass. J. 96, 1109 (1966).

    Google Scholar 

  • Swyer, G. I. M., Bonham, D. G.: Successful pregnancy in a pseudohermaphrodite. Brit. med. J. 1961 I, 1003.

    Google Scholar 

  • Van Metre, T. E., Jr., Niermann, W. A., Rosen, L. J.: A comparison of the growth suppressive effect of cortisone, prednisone and other adrenal cortical hormones. J. Allergy 31, 531 (1960).

    Article  Google Scholar 

  • Visser, H. K. A.: The adrenal cortex in childhood, II. Arch. Dis. Childh. 41, 113 (1966b).

    Article  PubMed  CAS  Google Scholar 

  • Visser, H. K. A., Degenhart, H. J., Cost, W. S., Croughs, W.: Adrenocortical control of renal sodium and potassium secretion in the newborn period. In: The Adaptation of the newborn infant to extra-uterine life. A Nutricia Symposium, (eds. J. H. P. Jonxis, H. K. A. Visser and J. A. Troelstra). Leyden: Stenfert Kroese 1964.

    Google Scholar 

  • Wilkins, L., Lewis, R. A., Klein, R., Rosemberg, E.: Suppression of androgen secretion by cortisone in case of congenital adrenal hyperplasia: preliminary report. Bull. Johns Hopk. Hosp. 86, 249 (1950).

    CAS  Google Scholar 

  • Zachman, M., Vollmin, J. A., Murset, G., Curtius, H.-Ch., Prader: Unusual type of congenital adrenal hyperplasia probably due to deficiency of 3ß-hydroxydehydrogenase. Case report of a surviving girl and steroid studies. J. clin. Endocr. 30, 719 (1970).

    Article  Google Scholar 

  • Zurbrugg, R. P.: Endocrine and genetic diseases in childhood (ed. Lytt I. Gardner), pp. 421. Philadelphia: W. B. Saunders 1969.

    Google Scholar 

  • Zurbrügg, R. P., Jacobs, R. D. B., Gardner, L. I.: Urinary testosterone. A method utilizing column chromatography. J. clin. Endocr. 25, 315 (1964).

    Article  Google Scholar 

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Newns, G.H. (1974). Congenital Adrenal Hyperplasia. In: Urology in Childhood. Handbuch der Urologie / Encyclopedia of Urology, vol 15 / 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-65687-3_24

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  • DOI: https://doi.org/10.1007/978-3-642-65687-3_24

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