Articles Tập 67 Số CĐ9-Hội Y học Giới tính 29/07/2026

DIAGNOSIS DISORDERS OF SEX DEVELOPMENT AT VIETDUC HOSPITAL UNIVERSITY: ADVANTAGES AND DIFFICULTS

Tran Thi Ngoc Anh1,2, Tran Thi Ngoc Anh1,2, Nguyen Viet Hoa1,2, Nguyen Quang1,2
1 Viet Duc University Hospital
2 Bệnh viện Hữu Nghị Việt Đức
DOI: 10.52163/yhc.v67iCD9.5817
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Keywords
Disorders of sex development, congenital adrenal hyperplasia, 5α-reductase type 2 deficiency, androgen insensitivity syndrome.
Abstract

Objective: To describe the current state of disorders of sex development diagnosis at Vietduc Hospital from 2015 to 2025 and analyze the advantages and challenges.

Subject and methods: Cross-sectional description. Patients: all disorders of sex development patients examined at Vietduc Hospital from 2015 to 2025.

Results: 99 out of 136 patients were diagnosed with disorders of sex development due to congenital adrenal hyperplasia (22 patients), 5α-reductase type 2 deficiency (25 patients), androgen insensitivity syndrome (24 patients), gonadal dysgenesis (17 patients) and Kallmann syndrome, ovotesticular syndrome (4 patients), Mayer Rokitansky Kuster Hauser syndrome (3 patients), a few patients with aplasia of the Müllerian ducts, persistent urogenital sinus. 37 patients have not had their causes identified because special diagnostic techniques, especially advanced techniques such as chromosome analysis, urinary steroid quantification, or gene mutation analysis, have not been performed.

Conclusions: Viet Duc University Hospital is a pioneer in diagnosing disorders of sex development in Vietnam with many disease forms; however, many patients have not been fully diagnosed.

References
[1]
Miller W.L, Auchus R.J. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocrine Reviews, 2011, 32 (1): 81-151. doi: 10.1210/er.2010-0013 Google Scholar
[2]
Chan A.O, Shek C.C. Urinary steroid profiling in the diagnosis of congenital adrenal hyperplasia and disorders of sex development: experience of a urinary steroid referral centre in Hong Kong. Clinical Biochemistry, 2013, 46 (4-5): 327-334. doi: 10.1016/j.clinbiochem.2012.12.006 Google Scholar
[3]
Witchel S.F. Congenital adrenal hyperplasia. J Pediatr Adolesc Gyencol, 2017, 30 (5): 520-534. doi: 10.1016/j.jpag.2017.04.001 Google Scholar
[4]
Chan A.O.K, But B.W, Lee C.Y et al. Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential? Clinical Chemistry, 2013, 59 (5): 798-806. doi: 10.1373/clinchem.2012.196501 Google Scholar
[5]
Salete Da Silva Rios et al. A case of Swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. Case Rep Oncol, 2015, 8 (1): 179-184. doi: 10.1159/000381451 Google Scholar
[6]
Rafael L.B, Elaine M.F.C, Andresa de S.R et al. Androgen insensivity syndrome: a review. Arch Endocrinol Metab, 2018, 62 (2): 227-235. doi: 10.20945/2359-3997000000031 Google Scholar
[7]
Wiersma R. Ovotesticular disorders of sex development in Southern Africa, 2011: 15-49. https://repub.eur.nl/pub/30680/111222_Wiersma,%20Rinus.pdf Google Scholar
[8]
Yu Mao, Shaoji Chien, Ru Wang et al. Evalution and treatment for ovotesticular disorders of sex development (OT-DSD) - experience based on a Chinese series. BMC Urol, 2017, 17 (1): 21. doi: 10.1186/s12894-017-0212-8. Google Scholar
[9]
Kebaili S, Chaabane K, Mouna Feki Mnif et al. Gonanal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with a 46,XX karyotype: a case report and review of literature. Indian J Endocrinol Metab, 2013, 17 (3): 505-508. doi: 10.4103/2230-8210.111663 Google Scholar
[10]
Hatipoglu N, Kurtoglu S. Micropenis: etiology, diagnosis and treatment approaches. J Clin Pediatr Endocrinol, 2013, 5 (4): 217-223. doi: 10.4274/Jcrpe.1135. Google Scholar