Beyond Monosomy: A Mosaic Turner Syndrome Presenting with Coarctation of the Aorta with Left Persistent Superior Vena Cava and Primary Ovarian Failure
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Abstract
Turner syndrome is a rare but not uncommon genetic syndrome due to partial or complete loss of X-chromosome in females. Various chromosome anomalies identified are 45X0, isochromosome Xq, ring X, deletion Xp, or an abnormal Y chromosome, most common being 45X0.Clinical features depends on the type of chromosome anomaly present while generally include short stature, primary amenorrhea, hypogonadism.
Hereby, we report a case of 18 year old female with Mosaic turner syndrome who presented with clinical finding of short stature with primary amenorrhea with coarctation of aorta. Patient was managed with multi-disciplinary approach that include growth hormone replacement, puberty induction and planning for ductal stenting.
[1] Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, et al. Clinical practice guidelines
for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. https://doi.
org/10.1093/ejendo/lvae050
[2] Silberbach M, Roos-Hesselink JW, Andersen NH, Braverman AC, Brown N, Collins RT, et al. Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048. https://doi.org/10.1161/HCG.0000000000000048
[3] Álvarez-Nava F, Lanes R, Quintero MS, Soto M, MacielGuerra AT, Skakkebæk A. Impact of karyotype on congenital
heart disease in Turner syndrome. Am J Med Genet C Semin Med Genet. 2020;184(1):41-53. https://doi.org/10.1002/
ajmg.c.32146
[4] Gorito V, Baptista C, Santos P, Costa AM, Carvalho J. Coarctation of Aorta in Turner Mosaicism. Int J Pediatr Adolesc Med. 2021 Dec;8(4):268-70. https://doi.org/10.1016/j. ijpam.2020.03.005
[5] Doğer E, Çakıroğlu Y, Ceylan Y, Ulak E, Özdamar Ö, Çalışkan E. Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature. Reprod Biol Endocrinol. 2015 Jun 10;13:59. https://doi.org/10.1186/s12958-015-0055-7
[6] Folsom LJ, Fuqua JS. Reproductive Issues in Women with Turner Syndrome. Endocrinol Metab Clin North Am. 2015
Dec;44(4):723-37. https://doi.org/10.1016/j.ecl.2015.07.004
[7] TTuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, et al. Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genet Med. 2019 Apr;21(4):877- 886. https://doi.org/10.1038/s41436-018-0271-6
[8] Sylvén L, Hagenfeldt K, Bröms J, et al. Bone mineral density in 45,X versus mosaic Turner syndrome: effects of HRT duration. Acta Paediatr. 1995;84(10):1179-83.
[9] Augoulea A, Zachou G, Lambrinoudaki I. Turner syndrome and osteoporosis. Maturitas. 2019 Dec;130:41-9. https://doi.org/10.1016/j.maturitas.2019.09.010
[10] Faienza MF, Ventura A, Colucci S, et al. Bone fragility in Turner syndrome and DXA size-artifact considerations. Int J
Endocrinol. 2016;2016:6562891.
[11] American Society for Reproductive Medicine (ASRM) Practice Committee. Maternal cardiovascular morbidity and mortality in pregnancy among individuals with Turner syndrome. Fertil Steril. 2024;122(3):401-8.
[12] Turner HE, Johannsen EB, Smyth A, Orchard E, Gravholt CH. Approach to the patient with Turner syndrome. J Clin
Endocrinol Metab. 2025;110(5):dga f517.
[13] Law MA, Collier SA, Sharma S. Coarctation of the aorta. In: StatPearls [Internet]. Treasure Island (FL): StatPearls
Publishing; 2025.
[14] Azizova A, Onder O, Arslan S, Ardali S, Hazirolan T. Persistent left superior vena cava: clinical importance and differential diagnoses. Insights Imaging. 2020 Oct 15;11(1):110. https://doi.org/10.1186/s13244-020-00906-2
[15] Saxena A, Relan J, Agarwal R, Awasthy N, Azad S, Chakrabarty M, et al. Indian Guidelines for Indications and Timing of Intervention for Common Congenital Heart Diseases: Revised and Updated Consensus Statement of the Working Group on Management of Congenital Heart Diseases. Abridged Secondary Publication. Indian Pediatr. 2020 Feb 15;57(2):143- 57. https://doi.org/10.1007/s13312-020-1733-x
for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. https://doi.
org/10.1093/ejendo/lvae050
[2] Silberbach M, Roos-Hesselink JW, Andersen NH, Braverman AC, Brown N, Collins RT, et al. Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048. https://doi.org/10.1161/HCG.0000000000000048
[3] Álvarez-Nava F, Lanes R, Quintero MS, Soto M, MacielGuerra AT, Skakkebæk A. Impact of karyotype on congenital
heart disease in Turner syndrome. Am J Med Genet C Semin Med Genet. 2020;184(1):41-53. https://doi.org/10.1002/
ajmg.c.32146
[4] Gorito V, Baptista C, Santos P, Costa AM, Carvalho J. Coarctation of Aorta in Turner Mosaicism. Int J Pediatr Adolesc Med. 2021 Dec;8(4):268-70. https://doi.org/10.1016/j. ijpam.2020.03.005
[5] Doğer E, Çakıroğlu Y, Ceylan Y, Ulak E, Özdamar Ö, Çalışkan E. Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature. Reprod Biol Endocrinol. 2015 Jun 10;13:59. https://doi.org/10.1186/s12958-015-0055-7
[6] Folsom LJ, Fuqua JS. Reproductive Issues in Women with Turner Syndrome. Endocrinol Metab Clin North Am. 2015
Dec;44(4):723-37. https://doi.org/10.1016/j.ecl.2015.07.004
[7] TTuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, et al. Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genet Med. 2019 Apr;21(4):877- 886. https://doi.org/10.1038/s41436-018-0271-6
[8] Sylvén L, Hagenfeldt K, Bröms J, et al. Bone mineral density in 45,X versus mosaic Turner syndrome: effects of HRT duration. Acta Paediatr. 1995;84(10):1179-83.
[9] Augoulea A, Zachou G, Lambrinoudaki I. Turner syndrome and osteoporosis. Maturitas. 2019 Dec;130:41-9. https://doi.org/10.1016/j.maturitas.2019.09.010
[10] Faienza MF, Ventura A, Colucci S, et al. Bone fragility in Turner syndrome and DXA size-artifact considerations. Int J
Endocrinol. 2016;2016:6562891.
[11] American Society for Reproductive Medicine (ASRM) Practice Committee. Maternal cardiovascular morbidity and mortality in pregnancy among individuals with Turner syndrome. Fertil Steril. 2024;122(3):401-8.
[12] Turner HE, Johannsen EB, Smyth A, Orchard E, Gravholt CH. Approach to the patient with Turner syndrome. J Clin
Endocrinol Metab. 2025;110(5):dga f517.
[13] Law MA, Collier SA, Sharma S. Coarctation of the aorta. In: StatPearls [Internet]. Treasure Island (FL): StatPearls
Publishing; 2025.
[14] Azizova A, Onder O, Arslan S, Ardali S, Hazirolan T. Persistent left superior vena cava: clinical importance and differential diagnoses. Insights Imaging. 2020 Oct 15;11(1):110. https://doi.org/10.1186/s13244-020-00906-2
[15] Saxena A, Relan J, Agarwal R, Awasthy N, Azad S, Chakrabarty M, et al. Indian Guidelines for Indications and Timing of Intervention for Common Congenital Heart Diseases: Revised and Updated Consensus Statement of the Working Group on Management of Congenital Heart Diseases. Abridged Secondary Publication. Indian Pediatr. 2020 Feb 15;57(2):143- 57. https://doi.org/10.1007/s13312-020-1733-x
| Files | ||
| Issue | Vol 10 No 6 (2025): November- December | |
| Section | Case Report(s) | |
| Keywords | ||
| Mosaic turner syndrome Coarctation of the aorta Primary amenorrhea Growth hormone Puberty induction | ||
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How to Cite
1.
Shukla S, Garg N, Suran A, Khare J. Beyond Monosomy: A Mosaic Turner Syndrome Presenting with Coarctation of the Aorta with Left Persistent Superior Vena Cava and Primary Ovarian Failure. CRCP. 2026;10(6):280-284.
