A CLINICAL CASE OF A NON-CLASSICAL FORM OF CONGENITAL ADRENAL CORTEX DYSFUNCTION WITH 21-HYDROXYLASE ENZYME DEFICIENCY IN COMBINATION WITH CONNECTIVE TISSUE DYSPLASIA SYNDROME
DOI:
https://doi.org/10.21856/j-PEP.2026.2.09Keywords:
non-classical form of congenital dysfunction of adrenal glands cortex, congenital adrenal hyperplasia, 21-hydroxylase deficiency, connective tissue dysplasia syndrome, polycystic ovary syndromeAbstract
The non-classical form of congenital dysfunction of adrenal glands cortex with 21-hydroxylase deficiency in conjunction with connective tissue dysplasia syndrome is considered rare, and accurate data on its prevalence are virtually nonexistent. It is particularly important to screen adolescent girls, women of reproductive age, and women planning pregnancy who have clinical manifestations of hyperandrogenism for possible congenital adrenal hyperplasia, especially in conjunction with connective tissue dysplasia syndrome, given the deterioration of connective tissue under the influence of hyperandrogenism. It is also necessary to examine women with polycystic ovary syndrome, as the presence of the latter may indicate hidden effects of androgens due to congenital adrenal hyperplasia.
A clinical case of a non-classical form of congenital adrenal dysfunction with 21-hydroxylase enzyme deficiency in combination with connective tissue dysplasia syndrome is presented.
References
1. Jha S, Turcu AF. Endocrinol Metab Clin North Am 2021;50(1): 151-165. http://doi.org/10.1016/j.ecl.2020.10.008.
2. White PC, Grossberger D, Onufer BJ, et al. Proc Natl Acad Sci U S A 1985;82(4): 1089-1093. http://doi.org/10.1073/pnas.82.4.1089.
3. Turcu AF, Auchus RJ. Endocrinol Metab Clin North Am 2015;44(2): 275-296. http://doi.org/10.1016/j.ecl.2015.02.002.
4. Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Endocr Rev 2022;43(1): 91-159. http://doi.org/10.1210/endrev/bnab016.
5. Arriba M, Ezquieta B. Front Endocrinol (Lausanne) 2022;13: 834549. http://doi.org/10.3389/fendo.2022.834549.
6. Rodrigues NR, Dunham I, Yu CY, et al. EMBO J 1987;6(6): 1653-1661. http://doi.org/10.1002/j.1460-2075.1987.tb02414.x.
7. Pignatelli D, Carvalho BL, Palmeiro A, et al. Front Endocrinol (Lausanne) 2019;10: 432. http://doi.org/10.3389/fendo.2019.00432. Erratum in: Front Endocrinol (Lausanne) 2020;11: 113. http://doi.org/10.3389/fendo.2020.00113.
8. Dupont B, Oberfield SE, Smithwick EM, et al. Lancet 1977;2(8052-8053): 1309-1312. http://doi.org/10.1016/s0140-6736(77)90362-2.
9. Quinkler M, Beuschlein F, Hahner S, et al. Dtsch Arztebl Int 2013;110(51-52): 882-888. http://doi.org/10.3238/arztebl.2013.0882.
10. Krone N, Rose IT, Willis DS, et al. J Clin Endocrinol Metab 2013;98(2): E346-E354. http://doi.org/10.1210/jc.2012-3343.
11. Bidet M, Bellanné-Chantelot C, Galand-Portier MB, et al. J Clin Endocrinol Metab 2010;95(3): 1182-1190. http://doi.org/10.1210/jc.2009-1383.
12. Speiser PW, Arlt W, Auchus RJ, et al. J Clin Endocrinol Metab 2018;103(11): 4043-4088. http://doi.org/10.1210/jc.2018-01865.
13. Adriaansen BPH, Schröder MAM, Span PN, et al. Front Endocrinol (Lausanne) 2022;13: 1064024. http://doi.org/10.3389/fendo.2022.1064024.
14. Pignatelli D. Front Horm Res 2013;40: 158-170. http://doi.org/10.1159/000342179.
15. Carmina E, Dewailly D, Escobar-Morreale HF, et al. Hum Reprod Update 2017;23(5): 580-599. http://doi.org/10.1093/humupd/dmx014.
16. Ben Simon A, Brener A, Segev-Becker A, et al. Front Endocrinol (Lausanne) 2022;13: 1022752. http://doi.org/10.3389/fendo.2022.1022752.
17. Maffazioli GDN, Bachega TASS, Hayashida SAY, et al. J Clin Endocrinol Metab 2020;105(8): e2895-e2902. http://doi.org/10.1210/clinem/dgaa369.
18. Cheng T, Liu J, Sun W, et al. BMC Endocr Disord 2022;22(1): 57. http://doi.org/10.1186/s12902-022-00969-w.
19. Cavazzana I, Semeraro P, Tomasi C, et al. Clin Exp Med 2025;25(1): 100. http://doi.org/10.1007/s10238-025-01614-1.
20. Bender Atik R, Christiansen OB, Elson J, et al. Hum Reprod Open 2023;2023(1): hoad002. http://doi.org/10.1093/hropen/hoad002.
21. Wan Z, Wang W, Zheng S, et al. J Steroid Biochem Mol Biol 2023;225: 106192. http://doi.org/10.1016/j.jsbmb.2022.106192.
22. Coelho SG, Almeida AG. Rev Port Cardiol (Engl Ed) 2020;39(4): 215-226. http://doi.org/10.1016/j.repc.2019.09.008.
23. Beighton P, De Paepe A, Steinmann B, et al. Am J Med Genet 1998;77(1): 31-37. http://doi.org/10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o.
24. Bascom R, Schubart JR, Mills S, et al. Am J Med Genet A 2019;179(4): 552-560. http://doi.org/10.1002/ajmg.a.61054.
25. Lao Q, Mallappa A, Rueda Faucz F, et al. Mol Genet Genomic Med 2021;9(2): e1556. http://doi.org/10.1002/mgg3.1556.
26. Chen W, Perritt AF, Morissette R, et al. Hum Mutat 2016;37(9): 893-897. http://doi.org/10.1002/humu.23028.
27. Morissette R, Chen W, Perritt AF, et al. J Clin Endocrinol Metab 2015;100(8): E1143-E1152. http://doi.org/10.1210/jc.2015-2232.
28. Martin KA, Anderson RR, Chang RJ, et al. J Clin Endocrinol Metab 2018;103(4): 1233-1257. http://doi.org/10.1210/jc.2018-00241.
29. Nacusi LP, Tindall DJ. Nat Rev Urol 2011;8(7): 378-384. http://doi.org/10.1038/nrurol.2011.67.
30. Corvol P, Michaud A, Menard J, et al. Endocrinology 1975;97(1): 52-58. http://doi.org/10.1210/endo-97-1-52.
31. Frank-Raue K, Junga G, Raue F, et al. Klin Wochenschr 1990;68(12): 597-601. http://doi.org/10.1007/BF01660957.
32. Spritzer P, Billaud L, Thalabard JC, et al. J Clin Endocrinol Metab 1990;70(3): 642-646. http://doi.org/10.1210/jcem-70-3-642.
33. Loli P, Menotti S, di Filippo L, Giustina A. Endocrine 2025;90(1): 1-16. http://doi.org/10.1007/s12020-025-04341-5.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Олена Дорош, Левінтанус В. В., Феськова А. О., Феськов О. М., Феськова І. А., Конопля Л. А., Герасименко Л. В.
This work is licensed under a Creative Commons Attribution 4.0 International License.
ISSN 
ISSN 
