Late Diagnosis of Turner Syndrome – Rare Genetic Disease : A Case Report


Astri Amelia Gosal
Ratna Dewi Artati


Turner syndrome (TS) is a rare genetic disease that occurs only in girls and is the result of the complete or partial absence of the X chromosome. TS has often delayed diagnosis in late childhood or adolescent age and is rarely identified during the neonatal period. The clinical features are primary amenorrhea, short stature, infertility, and characteristic dysmorphic features.  Late diagnosis is the main problem because early detection and appropriate management can improve the final height, sexual health and psychological development of patients. We report a case of turner syndrome in a 16-years and 4-months old female adolescent. The patient had specific clinical features of turner syndrome such as amenorrhea, absence of secondary sex growth and posture short stature since 14 years old. This case was confirmed from anamnesis, physical examination and chromosomal analysis, which demonstrated a gene karyotype of 45, X monosomy.



1. Hemani F, Niaz S, Kumar V, Khan S, Choudry E, Ali SR. A Case of Early Diagnosis of Turner Syndrome in a Neonate. Cureus. 2021;13(7):1–5.
2. Elsheikh M, Dunger DB, Conway GS, Wass JAH. Turner’s syndrome in adulthood. Endocr Rev. 2002;23(1):120–40.
3. Levitsky LL, Luria AHOD, Hayes FJ, Lin AE. Turner syndrome: Update on biology and management across the life span. Curr Opin Endocrinol Diabetes Obes. 2015;22(1):65–72
4. Liedmeier A, Jendryczko D, Der HC Van, Rapp M, Thyen U, Pienowski C, et al. Jol P re of. Psychoneuroendocrinology [Internet]. Elsevier Ltd; 2019;104548.
5. Gürsoy S, Erçal D. Turner Syndrome and Its Variants. J Pediatr Res. 2017;4(4):171–5.
6. Shankar RK, Backeljauw PF. Current best practice in the management of Turner syndrome. Ther Adv Endocrinol Metab. 2018;9(1):33–40.
7. Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol [Internet]. 2019;15(10):601–14. Available from:
8. Clemente EG, Penukonda SK, Doan T, Sullivan B, Kanungo S. Turner Syndrome. 2022;240–54.
9. Batubara JR, Utari A, Rudy Susanto. Sindrom Turner. Buku Ajar Endokrinol Anak. 2018;40–4.
10. Frias JL, Davenport ML. Health supervision for children with turner syndrome. Am Acad Pediatr. 2008;121(3):633–42.
11. Nora H, Maracilu CN, Andalas M, Priyanto MH. Primary amenorrhoea caused by turner syndrome: A case series. Bali Med J. 2021;10(2):553–8.
12. 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.
13. Mahdi FA, Alanazi ME, Alanazi NE, Abdurrahman S, Alazmi IAH, Almotairi EN, et al. An Overview on Turner Syndrome : Literature Review. 2020;10(6):78–81.
14. Saikia U, Sarma Di, Yadav Y. Delayed presentation of turner syndrome: Challenge to optimal management. J Hum Reprod Sci. 2017;10(4):297–301.
15. Iqbal S. Turner Syndrome : Update the Paradigm of Diagnosis , Clinical Care and Consequences of Y cell lines. 2014;3(2):8–17.