Primary amenorrhoea caused by Turner syndrome: A case series

Hilwah Nora; Cut Nonda Maracilu; Mohd Andalas; Muhammad Hikmawan Priyanto

doi:10.15562/bmj.v10i2.2407

Primary amenorrhoea caused by Turner syndrome: A case series

Hilwah Nora ,

Cut Nonda Maracilu ,

Mohd Andalas ,

Muhammad Hikmawan Priyanto ,

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DOI: https://doi.org/10.15562/bmj.v10i2.2407 |
Published: 2021-06-30

Abstract

Background: Amenorrhea is a condition where women do not experience menstruation or the cessation of menstrual cycles at reproductive age. Amenorrhea is divided into primary and secondary. Turner syndrome is one example of gonadal dysgensis that cause the most common primary amenorrhea. It is represented by the absence of all or part of the normal second sex chromosome and physical features including short stature, webbed neck, cubitus valgus, pterygium colli, low hairline, edema of the hands and feet, and shield chest. Clinical pictures and karyotype of Acehnesse patients with Turner syndrome are presented in this study. The patients involved in the study were those who came to an endocrinology clinic in a tertiary care center.

Case Presentation: We reported four cases of Turner syndrome which were confirmed from anamnesis, physical examination and chromosomal analysis at the Department of Obstetrics and Gynecology in the Fertility, Endocrine and Reproductive Division of RSUD Dr. Zainoel Abidin Banda Aceh.

Conclusion: All patients with Turner syndrome had amenorrhea, short stature, bone deformity and underdeveloped primary dan secondary sexual characteristic. Only one case has monosomy X (45, XO), a mosaic chromosomal component was present in the rest of them (45, X with mosaicism).

References

Khudija A, Dar HZ, Heema, Farhat R, Unar F, Shaikh AG. Raised BMI and Disturbed Menstrual Cycle. APMC 2018;12(3):179-81.
Herawati, Muchtar M, Sartika W, Syarwini. Pendidikan Kesehatan dalam Kesiapan Menghadapi Menarche di Sekolah Dasar. MENARA Ilmu. 2016; 10(1): 74-8.
Gasner A, Rehman A. Primary Amenorrhea. [Updated 2020 Feb 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-.
Rebar R. Evaluation of Amenorrhea, Anovulation, and Abnormal Bleeding. Endotext; 2018.
Taravati A, Tohidi F. Taiwanese Journal of Obstetrics & Gynecology Comprehensive analysis of oxidative stress markers and antioxidants status in preeclampsia. Taiwan J Obstet Gynecol [Internet]. Elsevier Ltd; 2018;57(6):779–90.
Yoon JY. Evaluation and management of amenorrhea related to congenital sex hormonal disorders. 2019;1012:149–57.
Hoffmann BL, Schorge JO. Amenorrhea. In: Williams GYNECOLOGY. 2nd ed. New York: McGraw-Hill Education; 2012. p. 440–5.
Prawiroharjo S. Gangguan Haid. In: Anwar M, editor. Ilmu Kandungan. 3rd ed. Jakarta: PT Bina Pustaka; 2017. p. 178–9.
Bia A, Gawlik A, Drosdzol-cop A, Wilk K, Ma E, Skrzypulec-plinta V. Case Report € ster-Hauser Syndrome Coexistence of MayerRokitansky-K u and Turner Syndrome : A Case Report. 2015;2–5.
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.
Muntaj S, Ganaie FA, Purva S V, Radhika S, Tilak P. Karyotypic Variables in Turner Syndrome : A Case Series. 2015;3(4):171–5.
Cameron PA, Rosa CL, King TFJ, Davies MC, Conway GS. The Turner Syndrome Life Course Project: Karyotype-phenotype analyses across the lifespan. Clin Endocrinol (Oxf). 2017; 87(5): 532-538.
Gravholt CH, 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 Sep;177(3):G1-G70.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner Syndrome: Mechanisms and Management. Nat Rev Endocrinol. 2019 Oct;15(10):601-614.
Andre H, Pimentel C, Veau S, Domin-bernhard M, Letur-konirsch H, Priou G, et al. European Journal of Obstetrics & Gynecology and Reproductive Biology Pregnancies and obstetrical prognosis after oocyte donation in Turner Syndrome : A multicentric study. 2019;238:73–7.

[1] Khudija A, Dar HZ, Heema, Farhat R, Unar F, Shaikh AG. Raised BMI and Disturbed Menstrual Cycle. APMC 2018;12(3):179-81.

[2] Herawati, Muchtar M, Sartika W, Syarwini. Pendidikan Kesehatan dalam Kesiapan Menghadapi Menarche di Sekolah Dasar. MENARA Ilmu. 2016; 10(1): 74-8.

[3] Gasner A, Rehman A. Primary Amenorrhea. [Updated 2020 Feb 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-.

[4] Rebar R. Evaluation of Amenorrhea, Anovulation, and Abnormal Bleeding. Endotext; 2018.

[5] Taravati A, Tohidi F. Taiwanese Journal of Obstetrics & Gynecology Comprehensive analysis of oxidative stress markers and antioxidants status in preeclampsia. Taiwan J Obstet Gynecol [Internet]. Elsevier Ltd; 2018;57(6):779–90.

[6] Yoon JY. Evaluation and management of amenorrhea related to congenital sex hormonal disorders. 2019;1012:149–57.

[7] Hoffmann BL, Schorge JO. Amenorrhea. In: Williams GYNECOLOGY. 2nd ed. New York: McGraw-Hill Education; 2012. p. 440–5.

[8] Prawiroharjo S. Gangguan Haid. In: Anwar M, editor. Ilmu Kandungan. 3rd ed. Jakarta: PT Bina Pustaka; 2017. p. 178–9.

[9] Bia A, Gawlik A, Drosdzol-cop A, Wilk K, Ma E, Skrzypulec-plinta V. Case Report € ster-Hauser Syndrome Coexistence of MayerRokitansky-K u and Turner Syndrome : A Case Report. 2015;2–5.

[10] 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.

[11] Muntaj S, Ganaie FA, Purva S V, Radhika S, Tilak P. Karyotypic Variables in Turner Syndrome : A Case Series. 2015;3(4):171–5.

[12] Cameron PA, Rosa CL, King TFJ, Davies MC, Conway GS. The Turner Syndrome Life Course Project: Karyotype-phenotype analyses across the lifespan. Clin Endocrinol (Oxf). 2017; 87(5): 532-538.

[13] Gravholt CH, 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 Sep;177(3):G1-G70.

[14] Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner Syndrome: Mechanisms and Management. Nat Rev Endocrinol. 2019 Oct;15(10):601-614.

[15] Andre H, Pimentel C, Veau S, Domin-bernhard M, Letur-konirsch H, Priou G, et al. European Journal of Obstetrics & Gynecology and Reproductive Biology Pregnancies and obstetrical prognosis after oocyte donation in Turner Syndrome : A multicentric study. 2019;238:73–7.

Primary amenorrhoea caused by Turner syndrome: A case series

Abstract

References

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