Abstract
A normal gonadal maturation with normal fertility are some of the major goals of long-term replacement therapy in adult males with Congenital Adrenal Hyperplasia (CAH). We describe here two young men, G.O. (case A, 23 years old) and S.S.(case B, 24 years old), both with a well defined diagnosis of CAH due to 21-hydroxylase deficiency classic homozygote form (21-CAH). In case A the diagnosis of the 21-CAH classic virilizing form was made at 3 years of age. The patient has undergone glucocorticoid therapy and is now 170 cm tall; all his hormonal findings are within the normal range. The semen analysis has shown a good fertility potential, with a slight modification when the patient decided to discontinue the therapy. In case B the diagnosis of the 21-CAH salt wasting form was performed at 9 days of age. The patient was initially treated with iv normal saline solution and a daily im injection of hydrocortisone and, subsequently, with mineral and glucocorticoid replacement therapy po. A satisfactory adult stature (165 cm) was attained. The patient is still on therapy, with a good hormonal profile. The semen analysis has shown an apparently normal fertility. In conclusion, our experience in adult males with 21-CAH, who have been administered prompt and adequate replacement therapy, shows that these patients can attain normal quality of life, satisfactory growth and development, normal sexual maturation and activity, and adequate sperm fertilizing ability, thereby supporting the usefulness of continuing this therapy during adult age.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
New M.I., Dupont B., Pang S., Pollack M.S., Levine L.S. An update of congenital adrenal hyperplasia. Rec. Prog. Horm. Res. 37: 105, 1981.
Kohn B., Levine L.S., Pollack M.S., Pang S., Lorenzen F., Levy D., Lerner A. J., Rondanini G.F., Dupont B., New M.I. Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 55: 817, 1982.
Bongiovanni A.M., Root A.W. The adrenogenital syndrome. N. Engl. J. Med. 268: 1283, 1963.
White P.C., New M.I., Dupont B.D. Congenital adrenal hyperplasia. N. Engl. J. Med. 316: 1519, 1987.
Pang S., Wallace M.A., Hofman L., Thuline H.C., Dorche C., Lyon I.C.T., Dobbins, R.H., Kling S., Fujieda K., Suwa S. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81: 866, 1988.
Valentino R., Tommaselli A.P., Rossi R., Lombardi G., Varrone S. A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11β-hydroxylase deficiency in Campania region. J. Endocrinol. Invest. 13: 221, 1990.
Fiet J., Pham-Huu-Trung M.T. Radioimmunoassay of 17-hydroxyprogesterone: physiological variations and pathological values in man. J. Steroid Biochem. 10: 569, 1979.
Wischusen J., Baker H.W.G., Hudson B. Reversible male infertility due to congenital adrenal hyperplasia. Clin. Endocrinol. 14: 571, 1981.
Urban M.D., Peter A.L., Migeon C.J. Adult height and fertility in men with congenital virilizing adrenal hyperplasia. N. Engl. J. Med. 299: 1392, 1978.
Korth-Schutz S., Levine L.S., New M.I. Serum androgens in normal prepubertal and pubertal children and in children with precocious adrenarche. J. Clin. Endocrinol. Metab. 42: 117, 1976.
Glass A.R., Jackson S.G., Perlstein R.S., Wray H.L. Adrenal insufficiency in a man with non-classical 21-hydroxylase deficiency: consequence or coincidence? J. Endocrinol. Invest. 17: 665, 1994.
Azziz R., Zacur H.A. 21-hydroxylase deficiency in female hyperandrogenism: screening and diagnosis. J. Clin. Endocrinol. Metab. 69: 577, 1989.
Ehrmann D.A., Barnes R.B., Rosenfield R.L. Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocr. Rev. 16: 322, 1995.
New M.I., Gertner J.M., Speiser P.W., del Balzo P. Growth and final height in classical and non-classical 21-hydroxylase deficiency. Acta Pediatr. Jpn. (Suppl.) 30: 79, 1988.
Zerah M., Ueshiba H., Wood E., Speiser P.W., Crawford C., McDonald T., Pareira J., Gruen D., New M.I. Prevalence of non classical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study. J. Clin. Endocrinol. Metab. 70: 1662, 1990.
Pang S., Wallace M.A., Hofman L., Thuline H.C., Dorche C., Lyon I.C.T., Dobbins, R.H., Kling S., Fujieda K., Suwa S. Worldwide experience in newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81: 866, 1988.
Miller W.L. Genetics, diagnosis, and management of 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 78: 241, 1994.
Mellon S.H., Miller W.L. Extra-adrenal steroid 21-hydroxylation is not mediated by P450c21. J. Clin. Invest. 84: 1497, 1989.
Young J., Couzinet B., Pholsena M., Nahoul K., Labbrie F., Schaison G. Plasma 3β-hydroxy-Δ5-steroids in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 78: 299, 1994.
Prader A., Zachmann M., Illig R. Fertility in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Acta Endocrinol. (Copenh.) (Suppl.) 177: 57, 1973.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Valentino, R., Savastano, S., Tommaselli, A.P. et al. Success of glucocorticoid replacement therapy on fertility in two adult males with 21-CAH homozygote classic form. J Endocrinol Invest 20, 690–694 (1997). https://doi.org/10.1007/BF03348034
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03348034