Turner syndrome and tuberculosis in adolescent: a case report

Nyoman Titamarita Trisnawan; Florencia Christina Sindhu; Peter Prayogo Hsieh; Arya Putri Ratnasari; Alberto Afrian; Ancelia Limantara; Han's Christian; Made Ratna Dewi; I Wayan Bikin Suryawan

doi:10.15562/bmj.v11i1.3243

Turner syndrome and tuberculosis in adolescent: a case report

Nyoman Titamarita Trisnawan ,

Florencia Christina Sindhu ,

Peter Prayogo Hsieh ,

Arya Putri Ratnasari ,

Alberto Afrian ,

Ancelia Limantara ,

Han's Christian ,

Made Ratna Dewi ,

I Wayan Bikin Suryawan ,

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DOI: https://doi.org/10.15562/bmj.v11i1.3243 |
Published: 2022-04-30

Abstract

Background: Turner syndrome is characterized by abnormality of one X chromosome. Those with Turner syndrome are at risk of developing tuberculosis infection due to decreased immune function.

Case: A 17-year-old girl came with complaints of short stature, amenorrhea, and no signs of secondary sexual growth. She also felt weak. On physical examinations, she weighed 24 kg, and her height was 119 cm. Her conjunctiva looked pale. She had a low set hairline, small mandible, short 4^th metacarpal, and wide-spaced nipple. Her breast and genitalia did not grow (1^st stage of Tanner classification). There was a lesion between her breasts. Laboratory results showed Hemoglobin 7 g/dL, MCV 62,6 fL, MCH 18,2 pg, MCHC 29 g/L, FSH >170 IU/L, LH 95,3 IU/L, Estradiol 11 pg/mL, Iron Ferrozine 7 mg/dL, TIBC 186 μg/dL, and Ferritin 50 ng/mL. Her Mantoux test showed induration with a diameter of 20-23 mm, and the Xpert MTB-RIF test showed low detection of MTB. Her bone age was appropriate for a 13-year-old girl. Histopathology test of her lesion showed chronic granulomatous inflammation. Her chromosome analysis showed Mos 45,X(56)/46,XX(44). She was diagnosed with Turner syndrome and tuberculosis. She received Progynova® 2 mg every 24 hours for 21 days, stopped for 10 days, and continued again for 21 days. She also got anti-tuberculosis drugs (pediatric regime).

Conclusion: The clinical spectrums of Turner syndrome vary widely. Decreased immune function in Turner syndrome can lead to infections such as tuberculosis. Early diagnosis and treatment can prevent further morbidity.

References

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Lee YL, Wu LL. Clinical features of girls with turner syndrome in a single centre in Malaysia. J ASEAN Fed Endocr Soc. 2019;34(1):22–8. https://doi.org/10.15605/jafes.034.01.05
Wonkam A, Veigne SW, Abass A, Um SN, Noubiap JJN, Mbanya J-C, et al. Features of Turner syndrome among a group of Cameroonian patients. Int J Gynecol Obstet. 2015;129(3):264–6. https://doi.org/10.1016/j.ijgo.2014.11.025
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[1] Batubara JRL, Utari A, Susanto R. Sindroma Turner. In: Batubara JRL, Parwoto BTAA, Pulungan AB, editors. Buku Ajar Endokrinologi Anak. 2nd ed. Jakarta: Badan Penerbit Ikatan Dokter Anak Indonesia; 2018. p. 40–4.

[2] Cui X, Cui Y, Shi L, Luan J, Zhou X, Han J. A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. Intractable Rare Dis Res. 2018;7(4):223–8. https://doi.org/10.5582/irdr.2017.01056

[3] Kruszka P, Addissie YA, Tekendo-ngongang C, Jones KL, Sarah K, Gupta N, et al. Turner syndrome in Diverse Populations. 2021;182(2):303–13. https://doi.org/10.1002/ajmg.a.61461.Turner

[4] Apperley L, Das U, Ramakrishnan R, Dharmaraj P, Blair J, Didi M, et al. Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study. Int J Pediatr Endocrinol. 2018;2018(1):1–6. https://doi.org/10.1186/s13633-018-0058-1

[5] Centers for Disease Control and Prevention. Epidemiology of tuberculosis. 2nd ed. Atlanta: U.S. Department of Health and Human Services; 2019.

[6] Hardhana B, Sibuea F, Widiantini W. Profil Kesehatan Indonesia 2019. 1st ed. Katalog Dalam Terbitan Kementerian Kesehatan RI. Jakarta: Kementrian Kesehatan Republik Indonesia; 2020.

[7] Thrasher BJ, Hong LK, Whitmire JK, Su MA. Epigenetic Dysfunction in Turner Syndrome Immune Cells. Curr Allergy Asthma Rep. 2016;16(5):1–11. https://doi.org/10.1007/s11882-016-0612-y

[8] Lee YL, Wu LL. Clinical features of girls with turner syndrome in a single centre in Malaysia. J ASEAN Fed Endocr Soc. 2019;34(1):22–8. https://doi.org/10.15605/jafes.034.01.05

[9] Wonkam A, Veigne SW, Abass A, Um SN, Noubiap JJN, Mbanya J-C, et al. Features of Turner syndrome among a group of Cameroonian patients. Int J Gynecol Obstet. 2015;129(3):264–6. https://doi.org/10.1016/j.ijgo.2014.11.025

[10] Mousavi S, Amiri B, Beigi S, Farzaneh M. The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report. J Med Case Rep. 2021;15(1):1–7. https://doi.org/10.1186/s13256-021-02673-0

[11] Shankar RK, Backeljauw PF. Current best practice in the management of Turner syndrome. Ther Adv Endocrinol Metab. 2018;9(1):33–40. https://doi.org/10.1177/2042018817746291

[12] Moka R, Sreelakshmi K, Gopinath PM, Satyamoorthy K. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome. J Hum Reprod Sci. 2013;6(2):129–32. https://doi.org/10.4103/0974-1208.117177

[13] Hamza RT, Shalaby MH, Hamed LS, Abdulla DBA, Elfekky SM, Sultan OM. Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound? Am J Med Genet. 2016;170(2):355–62. https://doi.org/10.1002/ajmg.a.37425

[14] Kansra AR, Donohoue PA. Hypergonadotropic Hypogonadism in the Female (Primary Hypogonadism). In: Kliegman RM, II JWSG, Blum NJ, Shah SS, Tasker RC, Wilson KM, et al., editors. Nelson Textbook of Pediatrics. 21st ed. Canada: Elsevier Inc.; 2020. p. 11741–51.

[15] Gürsoy S, Erçal D. Turner Syndrome and Its Variants. J Pediatr Res. 2017;4(4):171–5. https://doi.org/10.4274/jpr.35744

[16] Bucerzan S, Miclea D, Popp R, Alkhzouz C, Lazea C, Pop IV, et al. Clinical and genetic characteristics in a group of 45 patients with turner syndrome (monocentric study). Ther Clin Risk Manag. 2017;13:613–22. https://doi.org/10.2147/TCRM.S126301

[17] Kartasasmita CB, Basir D. Tuberkulosis. In: Rahajoe NN, Supriyatno B, Setyanto DB, editors. Buku Ajar Respirologi Anak. 1st ed. Jakarta: Badan Penerbit Ikatan Dokter Anak Indonesia; 2018. p. 150–78.

[18] Khadka P, Koirala S, Thapaliya J. Cutaneous Tuberculosis: Clinicopathologic Arrays and Diagnostic Challenges. Dermatol Res Pract. 2018;2018. https://doi.org/10.1038/s41598-019-52332-0

[19] Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1–70. https://doi.org/10.1530/EJE-17-0430

[20] Irzyniec T, Jeż W, Lepska K, Maciejewska-Paszek I, Frelich J. Childhood growth hormone treatment in women with Turner syndrome - benefits and adverse effects. Sci Rep. 2019;9(1):1–9. https://doi.org/10.1038/s41598-019-52332-0

[21] Lee MC, Conway GS. Turner’s syndrome: Challenges of late diagnosis. Lancet Diabetes Endocrinol [Internet]. 2014;2(4):333–8. http://dx.doi.org/10.1016/S2213-8587(13)70153-0

Turner syndrome and tuberculosis in adolescent: a case report

Abstract

References

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