• Diagnostic and treatment of children with disorders of sex development
en To content Full text of article

Diagnostic and treatment of children with disorders of sex development

Paediatric Surgery (Ukraine). 2026. 2(91): 89-98. doi: 10.15574/PS.2026.2(91).8998
Potsiurko A. R.1, Pereyaslov A. A.1,2, Hrymak I. Ya.1, Ivaskevych D. Z.1, Hyzha B. I.1, Placko N. J.1
1CNE of Lviv Regional Council Clinical Centre of children’s healthcare hospital «OHMATDYT», Ukraine
2SNCE «Danylo Halytsky Lviv National Medical University», Ukraine

For citation: Potsiurko AR, Pereyaslov AA, Hrymak IYa, Ivaskevych DZ, Hyzha BI, Placko NJ. (2026). Diagnostic and treatment of children with disorders of sex development. Paediatric Surgery (Ukraine). 2(91): 89-98. doi: 10.15574/PS.2026.2(91).8998.
Article received: Jan 26, 2026. Accepted for publication: Jun 15, 2026.

Disorders of sex development (DSD) is a congenital condition within which the development of chromosomal, gonadal, and anatomic sex is atypical. The clinical manifestation of DSD is variable, in some children it can be possible to diagnostic immediately after birth, but in other forms of DSD the clear diagnostic postponed to the until puberty. All this causes the difficulties in the diagnosis and treatment of patients with DSD.
Aim of this study was analyzing the results of investigation and treatment children with DSD.
Materials and methods. This study based on results of investigation and treatment of 18 patients at 2017-2025 years. In all patients, beside the typical clinical examination, the genetical investigation, determination of hormones level, and images modalities were applied.
Results. According to the results of investigation, 46,XX DSD was revealed in 8 patients; 46,XY DSD – in 7 patients: Swayer syndrome – in 5 of them, complete androgenic insensitivity syndrome – in one, and partial androgenic insensitivity syndrome – in one patient; sex chromosome DSD – in two patients, one of them had Klinefelter syndrome (47,XXY) and one – mixed gonadal dysgenesis (45,X/46,XY). Both diagnostic and therapeutic laparoscopy was performed in 11 patients. Surgery was applied in 3 patients – in all of them it was feminizing surgery was performed.
Conclusions. DSD is the challenging problem that requires rapid and complete examination to determine the patient’s gender. Patient treatment should be individualized, especially for decisions related to the future gender of the child, surgical interventions, hormone replacement therapy, and the possibility of preserving fertility.
The research was carried out in accordance with principles of the Helsinki Declaration. The informed agreement of parents was obtained for conducting the study.
The authors declare no conflict of interest.
Keywords: children, disorders of sex development, diagnostic, treatment.

REFERENCES

1. Achermann JC, Domenice S, Bachega TA et al. (2015). Disorders of sex development: effect of molecular diagnostics. Nat Rev Endocrinol. 11(8): 478-488. https://doi.org/10.1038/nrendo.2015.69; PMid:25942653

2. Acién P, Acién M. (2020). Disorders of sex development: Classification, review, and impact on fertility. J Clin Med. 9(11): 3555. https://doi.org/10.3390/jcm9113555; PMid:33158283 PMCid:PMC7694247

3. Acimi S. (2025). Timing of feminizing genitoplasty in patients with congenital adrenal hyperplasia. J Pediatr Urol. 21(1): 228-229. https://doi.org/10.1016/j.jpurol.2024.08.025; PMid:39406671

4. Acimi S, Bessahraoui M, Acimi MA et al. (2019). Vaginoplasty and creating labia minora in children with disorders of sex development. Int Urol Nephrol. 51(3): 395-399. https://doi.org/10.1007/s11255-018-2058-8; PMid:30547360

5. Alderson J, Skae M, Crowne EC. (2023). Why do parents recommend clitoral surgery? Parental perception of the necessity, benefit, and cost of early childhood clitoral surgery for congenital adrenal hyperplasia (CAH). Int J Impot Res. 35(1): 56-60. https://doi.org/10.1038/s41443-022-00578-0; PMid:35672389

6. American Academy of Pediatrics. (1996). Timing of elective surgery on the genitalia of male children with particular reference to the risks, benefits, and psychological effects of surgery and anesthesia. Pediatrics. 97(4): 590-594. https://doi.org/10.1542/peds.97.4.590

7. Bailez MM, Costanzo M, Guercio G. (2021). Role of minimally invasive surgery (MIS) in different sexual development (DSD). Semin Pediatr Surg. 30(4): 151078. https://doi.org/10.1016/j.sempedsurg.2021.151078; PMid:34412885

8. Barros BA, Oliveira LR, Surur CRC et al. (2021). Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review. Ann Pediatr Endocrinol Metab. 26(1): 19-23. https://doi.org/10.6065/apem.2040170.085; PMid:33819955 PMCid:PMC8026333

9. Berglund A, Chang S, Lind-Holst M et al. (2025). The epidemiology of disorders of sex development. Best Pract Res Clin Endocrinol Metab. 39(4): 102002. https://doi.org/10.1016/j.beem.2025.102002; PMid:40318915

10. Biason-Lauber A. (2017). Human sex development: from basic science to clinical practice and back. Pediatr Endocrinol Rev. 15(1): 8-20. doi: 10.17458/per.vol15.2017.l.humansexdevelopment.

11. Bumbulienė Ž, Bužinskienė D, Banuškevičienė G et al. (2022). Challenges in the diagnosis of XY differences of sexual development. Medicina (Kaunas). 58(12): 1736. https://doi.org/10.3390/medicina58121736; PMid:36556938 PMCid:PMC9787768

12. Burgmeier C, Leriche C. (2016). Laparoscopy in the surgical treatment of disorders of sexual development. J Laparoendosc Adv Surg Tech A. 26(9): 730-733. https://doi.org/10.1089/lap.2016.0017; PMid:27467856

13. Calvo A, Escolino M, Settimi A et al. (2016). Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders. Transl Pediatr. 5(4): 295-304. https://doi.org/10.21037/tp.2016.09.06; PMid:27867855 PMCid:PMC5107383

14. Chaikivska EF, Pyrohova VI, Hyzha LY et al. (2024). Clinical case of congenital vagina and cervical malformations in adolescent girl. Paediatric Surgery (Ukraine). 4(85): 123-129. https://doi.org/10.15574/PS.2024.4(85).123129

15. Claahsen-van der Grinten HL, Speiser PW, Ahmed SF et al. (2022). Congenital adrenal hyperplasia – Current insights in pathophysiology, diagnostics, and management. Endocr Rev. 43(1): 91-159. https://doi.org/10.1210/endrev/bnab016; PMid:33961029 PMCid:PMC8755999

16. Cools M, Nordenström A, Robeva R et al. (2018). Caring for individuals with a difference of sex development (DSD): a consensus statement. Nat Rev Endocrinol. 14(7): 415-429. https://doi.org/10.1038/s41574-018-0010-8; PMid:29769693 PMCid:PMC7136158

17. Dreger AD, Chase C, Sousa A et al. (2005). Changing the nomenclature/taxonomy for intersex: A scientific and clinical rationale. J Pediatr Endocrinol Metab. 18(8): 729-733. https://doi.org/10.1515/JPEM.2005.18.8.729; PMid:16200837

18. Duranteau L, Rapp M, van de Grift TC et al. (2021). Participant- and clinician-reported long-term outcomes after surgery in individuals with complete androgen insensitivity syndrome. J Pediatr Adolesc Gynecol. 34(2): 168-175. https://doi.org/10.1016/j.jpag.2020.11.012; PMid:33248216

19. Eggers S, Sadelin S, van der Bergen JA et al. (2016). Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 17(1): 243. https://doi.org/10.1186/s13059-016-1105-y; PMid:27899157

20. Ellerkamp V, Rall KK, Schaefer J et al. (2022). Techniques of primary vaginoplasty in young adults with differences of sex development and female identification. J Clin Med. 11(13): 3688. https://doi.org/10.3390/jcm11133688; PMid:35806974 PMCid:PMC9267529

21. Fallat ME, Hertweck P, Ralston SJ. (2012). Surgical and ethical challenges in disorders of sexual development. Adv Pediatr. 59(1): 283-302. https://doi.org/10.1016/j.yapd.2012.04.003; PMid:22789583

22. Guerra-Junior G, Andrade KC, Barcelos IHK, Maciel-Guerra AT. (2018). Imaging techniques in the diagnostic journey of disorders of sex development. Sex Dev. 12(1-3): 95-99. https://doi.org/10.1159/000479453; PMid:28848186

23. Guerrero-Fernández J, González-Peramato P, Rodríguez Estévez A et al. (2022). Consensus guide on prophylactic gonadectomy in different sex development. Endocrinol Diabetes Nutr (Engl Ed). 69(8): 629-645. https://doi.org/10.1016/j.endien.2022.10.002; PMid:36369235

24. Hemesath TP, de Paula LCP, Carvalho CG et al. (2019). Controversies on timing of sex assignment and surgery in individuals with disorders of sex development: A perspective. Front Pediatr. 6: 419. https://doi.org/10.3389/fped.2018.00419; PMid:30687685 PMCid:PMC6335325

25. Hryhorczuk AL, Phelps AS, Yu RN, Chow JS. (2022). The radiologist's role in assessing differences of sex development. Pediatr Radiol. 52(4): 752-764. https://doi.org/10.1007/s00247-021-05147-z; PMid:34355264

26. Kabilan A, Skakkebæk A, Chang S, Gravholt CH. (2021). Evaluation of the efficacy of transdermal and injection testosterone therapy in Klinefelter syndrome: A real-life study. J Endocr Soc. 5(6): bvab062. https://doi.org/10.1210/jendso/bvab062; PMid:34056502 PMCid:PMC8143670

27. Krege S, Eckoldt F, Richter-Unruh A et al. (2019). Variations of sex development: The first German interdisciplinary consensus paper. J Pediatr Urol. 15(2): 114-123. https://doi.org/10.1016/j.jpurol.2018.10.008; PMid:30713084

28. Kutney K, Konczal L, Kaminski B, Uli N. (2016). Challenges in the diagnosis and management of disorders of sex development. Birth Defects Res C Embryo Today. 108(4): 293-308. https://doi.org/10.1002/bdrc.21147; PMid:28033665

29. Lee PA. (2004). A perspective on the approach to the intersex child born with genital ambiguity. J Pediatr Endocrinol Metab. 17(2): 133-140. https://doi.org/10.1515/JPEM.2004.17.2.133

30. Lee PA, Houk CP, Ahmed SF, Hughes IA et al. (2006). Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 118(2): e488-500. https://doi.org/10.1542/peds.2006-0738; PMid:16882788

31. López Soto Á, Velasco Martínez M, Ferrández Martínez M et al. (2024). Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis? Ultrasound Obstet Gynecol. 63(5): 581-585. https://doi.org/10.1002/uog.27507; PMid:37773980 PMCid:PMC11292935

32. Lucas-Herald AK, Bryce J, Kyriakou A et al. (2021). Gonadectomy in conditions affecting sex development: a registry-based cohort study. Eur J Endocrinol. 184(6): 791-801. https://doi.org/10.1530/EJE-20-1058; PMid:33780351

33. Marczak E, Szarras-Czapnik M, Skórka A et al. (2025). Pediatric complete androgen insensitivity syndrome (CAIS): Clinical presentation, hormonal profiles, and gonadal management. J Clin Res Pediatr Endocrinol. Online ahead of print. https://doi.org/10.4274/jcrpe.galenos.2025.2025-5-7; PMid:41165086 PMCid:PMC13325819

34. Moriya K, Morita K, Mitsui T et al. (2014). Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development. J Pediatr Urol. 10(5): 955-961. https://doi.org/10.1016/j.jpurol.2014.03.006; PMid:24768569

35. Mouriquand P, Caldamone A, Malone P et al. (2014). The ESPU/SPU standpoint on the surgical management of Disorders of Sex Development (DSD). J Pediatr Urol. 10(1): 8-10. https://doi.org/10.1016/j.jpurol.2013.10.023; PMid:24528671

36. Mouriquand PDE, Gorduza DB, Gay C-L et al. (2016). Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how? J Pediatr Urol. 12(3): 139-149. https://doi.org/10.1016/j.jpurol.2016.04.001; PMid:27132944

37. Murphy A, Kearns C, Sugi MD, Sweet DE. (2021). Congenital adrenal hyperplasia. Radiographics. 41(4): E105-E106. https://doi.org/10.1148/rg.2021210118; PMid:34197246

38. Orozco-Poore C, Keuroghlian AS. (2023). Neurological considerations for "Nerve-Sparing" cosmetic genital surgeries performed on children with XX chromosomes diagnosed with 21-hydroxylase congenital adrenal hyperplasia and clitoromegaly. LGBT Health. 10(8): 567-575. https://doi.org/10.1089/lgbt.2022.0160; PMid:37319358

39. Ovidiu B, Marcu DR, Mischianu DLD et al. (2021). The challenges of androgen insensitivity syndrome. Arch Med Sci. 18(4): 881-889. https://doi.org/10.5114/aoms/125584; PMid:35832699 PMCid:PMC9266792

40. Pinhas-Hamiel O, Zalel Y, Smith E et al. (2002). Prenatal diagnosis of sex differentiation disorders: The role of fetal ultrasound. J Clin Endocrinol Metab. 87(10): 4547-4553. https://doi.org/10.1210/jc.2001-011034; PMid:12364433

41. Potsiurko AR, Hrymak IYa, Helner NV et al. (2021). Peculiarities of feminizing surgical correction in children with disorders of sexual development. Paediatric Surgery (Ukraine). 3(72): 63-68. https://doi.org/10.15574/PS.2021.72.63

42. Radmayr C, Bogaert G, Bujons A et al. (2025). EAU Guidelines on Paediatric Urology. In Proceedings of the EAU Annual Congress, Madrid, Spain, 21-24 March 2025; EAU Annual Congress: Madrid, Spain.

43. Raza J, Zaidi SZ, Warne GL. (2019). Management of disorders of sex development – With a focus on development of the child and adolescent through the pubertal years. Best Pract Res Clin Endocrinol Metab. 33(3): 101297. https://doi.org/10.1016/j.beem.2019.101297; PMid:31492626

44. Sadeghi A, Rezaei R, Razavi Z et al. (2025, Dec 13). Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review. BMC Pediatr. 26(1): 47. https://doi.org/10.1186/s12887-025-06399-6; PMid:41390623 PMCid:PMC12817803

45. Shadrack M, Salim MS, Ngiloi P et al. (2025). Advancing pediatric genital reconstruction in a resource-limited setting: A case of subtunical reduction clitoroplasty in a young girl. Int J Surg Case Rep. 131: 111415. https://doi.org/10.1016/j.ijscr.2025.111415

46. Steven M, O'Toole S, Lam JPH et al. (2012). Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development. Pediatr Surg Int. 28(12): 1161-1164. https://doi.org/10.1007/s00383-012-3178-3; PMid:23064803

47. Van de Grift TC, Rapp M, Holmdahl G et al. (2022). Masculinizing surgery in disorders/differences of sex development: clinician- and participant-evaluated appearance and function. BJU Int. 129(3): 394-405. https://doi.org/10.1111/bju.15369; PMid:33587786 PMCid:PMC9292912

48. Vicario S, Escolino M, Esposito G et al. (2025). Clinical spectrum, surgical management, and outcomes of NR5A1-Related 46,XY differences of sex development: A narrative review. Medicina (Kaunas). 61(11): 1965. https://doi.org/10.3390/medicina61111965; PMid:41303802 PMCid:PMC12654113

49. Wang C, Tian Q. (2025). Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome. Front Endocrinol (Lausanne). 16: 1600343. https://doi.org/10.3389/fendo.2025.1600343; PMid:41163677 PMCid:PMC12558735

50. Weidler EM, Grimsby G, Garvey EM et al. (2020). Evolving indications for surgical intervention in patients with differences/disorders of sex development: implications of deferred reconstruction. Semin Pediatr Surg. 29(3): 150929. https://doi.org/10.1016/j.sempedsurg.2020.150929; PMid:32571514 PMCid:PMC7322933

51. Witchel SF. (2018). Disorders of sex development. Best Pract Res Clin Obstet Gynaecol. 48: 90-102. https://doi.org/10.1016/j.bpobgyn.2017.11.005; PMid:29503125 PMCid:PMC5866176

52. Wu Y, Tao A, Jing J, Zhuang H. (2025) Ultrasonography for disorders of sex development in pediatrics. Front Pediatr. 13:1506996. https://doi.org/10.3389/fped.2025.1506996; PMid:40196161 PMCid:PMC11973905

53. Zerin F, Bhadra TK, Sadia R, Shahriar Z. (2025) Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report. Radiol Case Rep. 21(1): 329-332. https://doi.org/10.1016/j.radcr.2025.09.075; PMid:41209089 PMCid:PMC12595319