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

Tran Thi Ngoc Anh1, Tran Thi Ngoc Anh1, Nguyen Viet Hoa1, Nguyen Quang1
1 Viet Duc University Hospital

Main Article Content

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.

Article Details

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
[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
[3] Witchel S.F. Congenital adrenal hyperplasia. J Pediatr Adolesc Gyencol, 2017, 30 (5): 520-534. doi: 10.1016/j.jpag.2017.04.001
[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
[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
[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
[7] Wiersma R. Ovotesticular disorders of sex development in Southern Africa, 2011: 15-49. https://repub.eur.nl/pub/30680/111222_Wiersma,%20Rinus.pdf
[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.
[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
[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.