Congenitalis adrenalis hyperplasiában szenvedő fiúkban és férfiakban a herében tapintható csomóként jelentkező „adrenal rest tumor” jól ismert jelenség. Leggyakrabban 21-hidroxiláz-hiányos betegekben észlelik, azonban az elváltozás a congenitalis adrenalis hyperplasia ritkább formáiban, így 11-β-hidroxiláz-defektusban is előfordulhat. A here benignus és malignus daganataitól elkülönítésük fontos differenciáldiagnosztikai feladat, hiszen kezelésük merőben más, mint a valódi heredaganatoké. A szerzők 11-β-hidroxiláz-defektusban szenvedő fiatal férfi betegük kórtörténetét ismertetik, akinél tartósan elégtelen glükokortikoidszuppressziós kezelést követően mindkét herében tapintható csomóként észlelt „adrenal rest tumor” alakult ki, majd megfelelő hormonszuppressziós kezelésre az elváltozások gyors regressziót mutattak. Esetük tanulságait elemezve a szerzők áttekintik az „adrenal rest tumorok” patomechanizmusával, tünettanával, a kórisme és kezelés lehetőségeivel kapcsolatos mai ismereteket. Orv. Hetil, 45, 1863–1868.
New, M. I.: Inborn errors of adrenal steroidogenesis. Mol. Cell. Endocrinol., 2003, 211 , 75–83.
New M. I. , 'Inborn errors of adrenal steroidogenesis ' (2003 ) 211 Mol. Cell. Endocrinol. : 75 -83 .
Török, D., Eckhardt, G., Sólyom, J.: Twenty years experience in rapid adentification of congenital adrenal hyperplasia in Hungary. Eur. J. Pediatr., 2003, 162 , 844–849.
Sólyom J. , 'Twenty years experience in rapid adentification of congenital adrenal hyperplasia in Hungary ' (2003 ) 162 Eur. J. Pediatr. : 844 -849 .
Martinez-Aguayo, M., Rocha, A., Rojas, N. és mtsai: Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. J Clin. Endocrinol. Metab., 2007, 92 , 4583–4589.
Rojas N. , 'Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia ' (2007 ) 92 J Clin. Endocrinol. Metab. : 4583 -4589 .
Claahsen-van der Grinten, H. I., Hermus, A. R. M. M., Otten, B. J.: Testicular adrenal rest tumors in congenital adrenal hyperplasia. Int. J. Ped. Endocrinol., 2009, DOI:10.1155/2009/624823
Otten B. J. , 'Testicular adrenal rest tumors in congenital adrenal hyperplasia ' (2009 ) Int. J. Ped. Endocrinol. : -.
Claahsen-van der Grinten, H. I., Sweep, F. C. G., Blickman, J. G. és mtsai: Prevalence of testicular adrenal rest tumors in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur. J. Endocrinol., 2007, 157 , 339–344.
Blickman J. G. , 'Prevalence of testicular adrenal rest tumors in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency ' (2007 ) 157 Eur. J. Endocrinol. : 339 -344 .
Collet, T-H., Pralong, F. P.: Reversal of primary male infertility and testicular adrenal rest tumors in salt-wasting congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab., 2010, 95 , 2013–2014.
Pralong F. P. , 'Reversal of primary male infertility and testicular adrenal rest tumors in salt-wasting congenital adrenal hyperplasia ' (2010 ) 95 J. Clin. Endocrinol. Metab. : 2013 -2014 .
Stikkelbroeck, N. M. M. L., Suliman, H. M., Otten, B. J. és mtsai: Testicular adrenal rest tumors in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features. Eur. Radiol., 2003, 13 , 1597–1603.
Otten B. J. , 'Testicular adrenal rest tumors in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features ' (2003 ) 13 Eur. Radiol. : 1597 -1603 .
Reisch, N., Scherr, M., Flade, L. és mtsai: Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab., 2010, 95 , 2065–2072.
Flade L. , 'Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency ' (2010 ) 95 J. Clin. Endocrinol. Metab. : 2065 -2072 .
Bercovici, J. P., Fiet, J., Gibault, L. és mtsai: Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies). J. Steroid Biochem. Mol. Biol., 2005, 93 , 67–72.
Gibault L. , 'Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies) ' (2005 ) 93 J. Steroid Biochem. Mol. Biol. : 67 -72 .
Avila, N. A., Shawker, T. S., Jones, J. V. és mtsai: Testicular adrenal rest tissue in congenital adrenal hyperplasia: Serial sonographic and clinical findings. Am. J. Radiol., 1999, 172 , 1725–1735.
Jones J. V. , 'Testicular adrenal rest tissue in congenital adrenal hyperplasia: Serial sonographic and clinical findings ' (1999 ) 172 Am. J. Radiol. : 1725 -1735 .
Ogilvie, C. M., Crouch, N. S., Rumsby, G. és mtsai: Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin. Endocrinol., 2006, 64 , 2–11.
Rumsby G. , 'Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues ' (2006 ) 64 Clin. Endocrinol. : 2 -11 .
Claahsen-van der Grinten, H. L., Otten, B. J., Takahashi, S. és mtsai: Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: Evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients. J. Clin. Endocrinol. Metab., 2007, 92 , 612–615.
Takahashi S. , 'Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: Evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients ' (2007 ) 92 J. Clin. Endocrinol. Metab. : 612 -615 .
Stikkelbroeck, N. M. M. L., Otten, B. J., Pasic, A. és mtsai: High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab., 2001, 86 , 5721–5728.
Pasic A. , 'High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia ' (2001 ) 86 J. Clin. Endocrinol. Metab. : 5721 -5728 .
Arlt, W., Krone, N.: Adult consequences of congenital adrenal hyperplasia. Horm. Res., 2007, 68 , 158–164.
Krone N. , 'Adult consequences of congenital adrenal hyperplasia ' (2007 ) 68 Horm. Res. : 158 -164 .
Storr, H. L., Barwick, T. D., Snodgrass, G. A. I. és mtsai: Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11β-hydroxylase deficiency. Horm. Res., 2003, 60 , 99–102.
Snodgrass G. A. I. , 'Hyperplasia of adrenal rest tissue causing a retroperitoneal mass in a child with 11β-hydroxylase deficiency ' (2003 ) 60 Horm. Res. : 99 -102 .
Bachelot, A., Chakthoura, Z., Rouxel, A. és mtsai: Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. Horm. Res., 2008, 69 , 203–211.
Rouxel A. , 'Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults ' (2008 ) 69 Horm. Res. : 203 -211 .
Combes-Moukhovsky, M. E., Kottler, M. L., Valenski, P. és mtsai: Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab., 1994, 79 , 1390–1394.
Valenski P. , 'Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia ' (1994 ) 79 J. Clin. Endocrinol. Metab. : 1390 -1394 .
Blumberg-Tick, J., Boudou, P., Nahoul, K. és mtsai: Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins. J. Clin. Endocrinol. Metab., 1991, 73 , 1129–1133.
Nahoul K. , 'Testicular tumors in congenital adrenal hyperplasia: steroid measurements from adrenal and spermatic veins ' (1991 ) 73 J. Clin. Endocrinol. Metab. : 1129 -1133 .
Claahsen-van der Grinten, H. I., Otten, B. J., Sweep, E. C. G. J. és mtsai: Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissues. J. Clin. Endocrinol. Metab., 2007, 92 , 3674–3680.
Sweep E. C. G. J. , 'Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissues ' (2007 ) 92 J. Clin. Endocrinol. Metab. : 3674 -3680 .
Rich, M. A., Keating, M. A., Levin, H. S. és mtsa: Tumors of the adrenogenital syndrome: an aggressive conservative approach. J. Urol., 1998, 160 , 1838–1841.
Levin H. S. , 'Tumors of the adrenogenital syndrome: an aggressive conservative approach ' (1998 ) 160 J. Urol. : 1838 -1841 .
Stikkelbroeck, N. M. M. L., Hermus, A. R. M. M., Suliman, H. M. és mtsai: Asymptomatic testicular adrenal rest tumors in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years. J. Pediatr. Endocrinol. Metab., 2004, 17 , 645–653.
Suliman H. M. , 'Asymptomatic testicular adrenal rest tumors in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years ' (2004 ) 17 J. Pediatr. Endocrinol. Metab. : 645 -653 .
Claahsen-van der Grinten, H. I., Hulsbergen-van de Kaa, C. A., Otten, B. J.: Ovarian adrenal rest tissue in congenital adrenal hyperplasia – a patient report. J. Pediatr. Endocrinol. Metab., 2006, 19 , 177–182.
Otten B. J. , 'Ovarian adrenal rest tissue in congenital adrenal hyperplasia – a patient report ' (2006 ) 19 J. Pediatr. Endocrinol. Metab. : 177 -182 .
Karnak, I., Senocak, M. E., Gögüs, S. és mtsai: Testicular enlargement in patients with 11β-hydroxylase deficiency. J. Pediatr. Surg., 1997, 32 , 756–758.
Gögüs S. , 'Testicular enlargement in patients with 11β-hydroxylase deficiency ' (1997 ) 32 J. Pediatr. Surg. : 756 -758 .
Davis, J. M., Woodroof, J., Sadasivan, R. és mtsa: Case report: congenital adrenal hyperplasia and malignant Leydig cell tumor. Am. J. Med. Sci., 1995, 309 , 63–65.
Sadasivan R. , 'Case report: congenital adrenal hyperplasia and malignant Leydig cell tumor ' (1995 ) 309 Am. J. Med. Sci. : 63 -65 .
Adesokan, A., Adegboyega, P. A., Cowan, D. F. és mtsai: Testicular ’tumor’ of the adrenogenital syndrome: a case report of an anusual association with myelolipoma and seminoma in cryptorchism. Cancer, 1997, 80 , 2120–2127.
Cowan D. F. , 'Testicular ’tumor’ of the adrenogenital syndrome: a case report of an anusual association with myelolipoma and seminoma in cryptorchism ' (1997 ) 80 Cancer : 2120 -2127 .