Combination of congenital dysfunction of the adrenal cortex with von Willebrand disease

Currently, more than 70% of hereditary diseases can be considered rare, since their occurrence in the population is only 2%. Regular epidemiological studies show that the frequency of detection of hereditary diseases in the pediatric population is increasing. In connection with this trend, diagnostics is also improving. Congenital adrenal cortical deficiency has been included in neonatal screening since 2006. The presented clinical case demonstrates a combination of hereditary diseases in one patient, in this case, congenital dysfunction of the adrenal cortex and von Willebrand disease. The described clinical example is the result of observation of a child from birth to 15 years of age, with the features of the combined course of two diseases, the selection of drug therapy. The diagnosis of congenital dysfunction of the adrenal cortex was made from birth and confirmed genetically, the child received therapy with mineralocorticoids and glucocorticoids. At the age of 8 months, against the background of an Addisonian crisis, a deficiency of coagulation factor 8 was revealed, in connection with which the drug Factor 8 was added to the therapy, and from the age of 13 – Human coagulation factor VIII human factor von Willebrand. Since the parents did not adhere to medical recommendations, there was no stable compensation for congenital dysfunction of the adrenal cortex, so at the age of 13, the National Medical Research Center of Endocrinology in Moscow adjusted the treatment regimen with hormones. At the age of 15, he was admitted to the Department of Endocrinology of the N.N. Silishcheva Children’s Clinical Hospital with complaints of dizziness, weakness and lethargy. The examination revealed mild anemia, in connection with which iron III hydroxide polymaltose and folic acid were added to the therapy. Against the background of treatment, the patient showed positive dynamics, however, the child requires special monitoring due to the threat of developing a crisis of adrenal insufficiency against the background of stress and infection.

1. Girsh YaV, Kurikova EA. Congenital adrenal hyperplasia: case study. Vestnik SurGU. Meditsina. 2020;44(2):46–53. (In Russ.) https://doi.org/10.34822/2304-9448-2020-2-46-53.

2. Kalinchenko NY, Chistousova GV, Petrov VM, Vasiliev EV, Tiulpakov AN. The rare form of congenital adrenal hyperplasia caused by an autosomal dominant form of STAR deficiency. Problemy Endokrinologii. 2017;64(3):157–159. (In Russ.) http://doi.org/10.14341/probl8644.

3. Mokrysheva NG, Melnichenko GA, Adamyan LV, Troshina EA, Molashenko NV, Sazonova AI et al. Russian clinical practice guidelines «congenital adrenal hyperplasia». Obesity and Metabolism. 2021;18(3):345–382. (In Russ.) https://doi.org/10.14341/omet12787.

4. Otto NYu, Sagitova GR, Nikulina NYu, Ledyaev MYa. Frequency of metabolic syndrome and other complications of obesity in the practice of a pediatric endocrinologist. Journal of Volgograd State Medical University. 2018;(3):93–98. (In Russ.) Available at: https://www.elibrary.ru/xztutr.

5. Pishak VP, Riznichuk NA. Adrenogenital syndrome: molecular mechanisms of development. Mezhdunarodnyy Endokrinologicheskiy Zhurnal. 2017;13(2):195–202. (In Russ.) Available at: https://www.elibrary.ru/ynupar.

6. Raygorodskaya NYu, Novikova EP, Tyul’pakov AN, Kareva MA, Nikolaeva NA, Bolotova NV. Congenital dysfunction of the adrenal cortex caused by 11β-hydroxylase deficiency: late diagnosis and sex reassignment in a two-year-old child. Problemy Endokrinologii. 2021;67(5):53–57. (In Russ.) https://doi.org/10.14341/probl12749.

7. Rykova OV. Non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: laboratory criteria for diagnosis and monitoring of treatment effectiveness. Mezhdunarodnyy Endokrinologicheskiy Zhurnal. 2019;15(5):396–401. (In Russ.) Available at: https://www.elibrary.ru/uepnty.

8. Sagitova GR, Davydova OV, Antonova AA, Ilyenko TL. Early manifestation of infantile Pompe disease (case report). Journal of Siberian Medical Sciences. 2022;6(3):143–153. (In Russ.) https://doi.org/10.31549/2542-1174-2022-6-3-143-153.

9. Sagitova GR, Antonova AA, Nikulina NYu, Stolypina MV. Structure of stunning in children Astrakhan Region. Glavnyy Vrach Yuga Rossii. 2022;2(83):47–49. (In Russ.) Available at: https://www.elibrary.ru/pyuhab.

10. Stavtseva SN, Kolesnikova YuG, Zubtsova TI, Kirsanova VA, Andreeva NI. Adrenogenital syndrome. 10 years of screening in the Oryol region. Results. Health and Education Millennium. 2018;20(3):84–88. (In Russ.) Available at: https://www.elibrary.ru/yshoyw.

11. Buonocore F, Achermann JC. Primary adrenal insufficiency: New genetic causes and their long-term consequences. Clin Endocrinol. 2020;92(1):11–20. https://doi.org/10.1111/cen.14109.

12. Nowotny H, Ahmed SF, Bensing S, Beun JG, Brösamle M, Chifu I et al. Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis. Endocrine. 2021;71(3):58–594. https://doi.org/10.1007/s12020-021-02649-6.

13. Roucher-Boulez F, Mallet-Motak D, Tardy-Guidollet V, Menassa R, Goursaud C, Plotton I, Morel Y. News about the genetics of congenital primary adrenal insufficiency. Ann Endocrinol. 2018;79(3):174–181. https://doi.org/10.1016/j.ando.2018.03.016.

14. Dupervil B, Abe K, O’Brien SH, Oakley M, Kulkarni R, Thornburg CD et al. Characteristics, complications, and sites of bleeding among infants and toddlers less than 2 years of age with VWD. Blood Adv. 2021;5(8):2079–2086. https://doi.org/10.1182/bloodadvances.2020004141.

15. Siboni SM, Biguzzi E, Caiani V, Mistretta C, Bucciarelli P, Peyvandi F. Baseline factor VIII plasma levels and age at first bleeding in patients with severe forms of von Willebrand disease. Haemophilia. 2016;22(4):564–569. https://doi.org/10.1111/hae.12900.