Gastrointestinal vascular malformations in patients with Turner's syndrome: a systematic review of case reports
Abstract
BACKGROUND/AIM: There is a paucity of data on gastrointestinal (GI) vascular abnormalities in patients with Turner's syndrome (TS). Therefore, this literature review aimed to characterize the nature of GI vascular malformations in patients with TS, their localization in the GI tract, and their clinical and laboratory manifestations. METHODS: A systematic search for articles was conducted using Medline and Embase (until August 2017). A manual search of the references of the included papers was performed to identify any potential additional references. We also conducted a retrospective chart review of all patients with TS and GI bleeding who were hospitalized at our institution. RESULTS: A total of 29 articles published between 1947 and 2015 that described 39 cases were reviewed. Additionally, we included 2 patients who were hospitalized at our institution. The median age of patients with TS was 15 years (range: 0.1-57 years). Iron deficiency anaemia (35/40), haematochezia (15/37), and melaena (14/36) were the most common symptoms. Abnormal GI vessels occurred throughout the entire bowel, with a predilection for the small intestine (72%, 29/40). The most common abnormal vessels (65%, 24/37) were telangiectasias and dilated veins. CONCLUSION: Telangiectasias and dilated veins of the small intestine were the most commonly seen abnormal GI vessels in patients with TS.
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Telangiectasias and dilated veins of the small bowel are reported as additional causes of GI bleeding among patients with TS.
“Telangiectasias and dilated veins of the small bowel are reported as additional causes of GI bleeding among patients with TS,733 and in one case-report, bleeding from a vascular malformation in the gastrointestinal tract and resultant microcytic anemia improved with initiation of EST.734”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [733]
Cites
Nielsen, J., & Wohlert, M. (1991) · Human Genetics · doi:10.1007/bf01213097 · Cited by 1,193 · see citing works
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works
Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005 · see citing works
Vascular Actions of Estrogens: Functional Implications
Miller, V. M., & DUCKLES, S. P. (2008) · Pharmacological Reviews · doi:10.1124/pr.107.08002 · Cited by 592 · see citing works
Treatment of bleeding gastrointestinal vascular malformations with oestrogen-progesterone
Cutsem, E. V., Rutgeerts, P., & Vantrappen, G. R. (1990) · The Lancet · doi:10.1016/0140-6736(90)91010-8 · Cited by 291 · see citing works
Junquera, F., Feu, F., Papo, M., Videla, S., Armengol, J., Bordas, J. M., Saperas, E., Piqué, J. M., & Malagelada, J. (2001) · Gastroenterology · doi:10.1053/gast.2001.28650 · Cited by 248 · see citing works
Saperas, E., Dot, J., Videla, S., Álvarez-Castells, A., Pérez, M., Armengol, J., & Malagelada, J. (2007) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.2007.01058.x · Cited by 193 · see citing works
Prevalence and Clinical Picture of Celiac Disease in Turner Syndrome
Bonamico, M., Pasquino, A. M., Mariani, P., Danesi, H. M., Culasso, F., Mazzanti, L., Petri, A., & Bona, G. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020855 · Cited by 184 · see citing works
The role of endoscopy in the management of suspected small-bowel bleeding
Gurudu, S., Bruining, D. H., Acosta, R. D., Eloubeidi, M. A., Faulx, A. L., Khashab, M. A., Kothari, S., Lightdale, J. R., Muthusamy, V. R., Yang, J. T., et al. (2016) · Gastrointestinal Endoscopy · doi:10.1016/j.gie.2016.06.013 · Cited by 173 · see citing works
Stirone, C., Boroujerdi, A., Duckles, S. P., & Krause, D. N. (2005) · Molecular Pharmacology · doi:10.1124/mol.104.004465 · Cited by 148 · see citing works
Li, L., Hisamoto, K., Kim, K. H., Haynes, M. P., Bauer, P. M., Sanjay, A., Collinge, M., Baron, R., Sessa, W. C., & Bender, J. R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704315104 · Cited by 87 · see citing works
LISSER, H., Curtis, L. E., Escamilla, R. F., & Goldberg, M. B. (1947) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-7-10-665 · Cited by 83 · see citing works
Effect of Estrogen Replacement on Vasoconstrictor Responses in Rat Mesenteric Arteries
Zhang, Y., & Davidge, S. T. (1999) · Hypertension · doi:10.1161/01.hyp.34.5.1117 · Cited by 61 · see citing works
Gastrointestinal Bleeding in Turner's Syndrome: A Case Report and Literature Review
Eroğlu, Y., Emerick, K. M., Chou, P. M., & Reynolds, M. (2002) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/00005176-200207000-00018 · Cited by 32 · see citing works
Gastrointestinal Bleeding in Turner's Syndrome
Rosen, K. M., SIROTA, D. K., & MARINOFF, S. C. (1967) · Annals of Internal Medicine · doi:10.7326/0003-4819-67-1-145 · Cited by 25 · see citing works
Intestinal haemorrhage in Turner's syndrome.
Burge, D. M., Middleton, A. W., Kamath, R., & Fasher, B. (1981) · Archives of Disease in Childhood · doi:10.1136/adc.56.7.557 · Cited by 22 · see citing works
Intestinal Telangiectasia in Turner's Syndrome
Rutlin, E., Wislöff, F., Myren, J., & SERCK-HANSSEN, A. (1981) · Endoscopy · doi:10.1055/s-2007-1021654 · Cited by 19 · see citing works
Bonamico, M., Pasquino, A. M., Mariani, P., Danesi, H. M., Culasso, F., Mazzanti, L., Petri, A., & Bona, G. (2002) · Cited by 19 · see citing works
Abnormalities of gut vessels in Turner’s syndrome
Reinhart, W. H., Mordasini, C., Stäubli, M., & Scheurer, U. (1983) · Postgraduate Medical Journal · doi:10.1136/pgmj.59.688.122 · Cited by 16 · see citing works
Gastrointestinal Hemorrhage in Turner Syndrome
Frame, B. (1977) · Archives of Internal Medicine · doi:10.1001/archinte.1977.03630170087020 · Cited by 16 · see citing works
Jolley, C. D., Langham, M. R., Dillard, R., & Novak, D. A. (2001) · Journal of Pediatric Surgery · doi:10.1053/jpsu.2001.24000 · Cited by 14 · see citing works
Angiographic demonstration of phlebectasia in a case of Turner's syndrome
Salomonowitz, E. K., Staffen, A., Pötzi, R., Czembirek, H., & Meryn, S. (1983) · Abdominal Imaging · doi:10.1007/bf01948133 · Cited by 12 · see citing works
A case of GI hemorrhage in a patient with Turner's syndrome: diagnosis by capsule endoscopy
Nudell, J., & Brady, P. G. (2006) · Gastrointestinal Endoscopy · doi:10.1016/j.gie.2005.11.002 · Cited by 12 · see citing works
Diagnosis of Small Bowel Telangiectasia in Turner's Syndrome Using Capsule Endoscopy
Qureshi, M. A., Mouzaki, M., & Le, T. (2009) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2009.22.8.759 · Cited by 10 · see citing works
Gastrointestinalblutung beim Turner-Syndrom infolge Teleangiektasien in der Darmwand
Passarge, E. (1968) · DMW - Deutsche Medizinische Wochenschrift · doi:10.1055/s-0028-1105040 · Cited by 9 · see citing works
Stawicki, S. P., Martins, N., Chaput, K. J., & Modi, R. (2017) · International Journal of Critical Illness and Injury Science · doi:10.4103/ijciis.ijciis_14_17 · Cited by 6 · see citing works
Obscure gastrointestinal bleeding and T urner syndrome
Bang, J. Y., & Peter, S. (2012) · Digestive Endoscopy · doi:10.1111/j.1443-1661.2012.01373.x · Cited by 4 · see citing works
The value of abdominal angiography in Turner's syndrome: A case report
Barreto, A., Castañeda-Zúñiga, W. R., Velasquez, G., Zollikofer, C., & Amplatz, K. (1981) · CardioVascular and Interventional Radiology · doi:10.1007/bf02552385 · Cited by 3 · see citing works
Melena and Hyperammonemic Seizures in a Turner Syndrome Patient
Cheah, E., Hei, E. L., & O'Loughlin, E. V. (2014) · Gastroenterology · doi:10.1053/j.gastro.2014.10.053 · Cited by 2 · see citing works
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Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
The changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149 · see citing works
Viuff, M. H., Stochholm, K., Grønbæk, H., Berglund, A., Juul, S., & Gravholt, C. H. (2021) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.16277 · Cited by 30 · see citing works
Chenbhanich, J., Ungprasert, P., & Kröner, P. T. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63217 · Cited by 7 · see citing works
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA
Nriagu, B. N., Williams, L. S., Brewer, N. S., Surrey, L. F., Srinivasan, A. S., Li, D., Britt, A., Treat, J. R., Crowley, T. B., O’Connor, N., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63385 · Cited by 7 · see citing works
Flores, A., Freestone, D. J., Fuller, M. K., Wozny, N., & Huang-Pacheco, A. (2022) · American Journal of Case Reports · doi:10.12659/ajcr.937259 · Cited by 5 · see citing works
Recurrent gastrointestinal bleeding due to vascular malformations in a girl with Turner syndrome
Witkowska-Krawczak, E., Zapolska, A., Banaszkiewicz, A., & Kucharska, A. (2021) · Pediatric Endocrinology Diabetes and Metabolism · doi:10.5114/pedm.2021.107722 · Cited by 4 · see citing works
Self-citationNon-Cirrhotic Portal Hypertension in Turner’s Syndrome: A Case Report
Jamali, A., & Ajumobi, A. B. (2024) · Case Reports in Gastroenterology · doi:10.1159/000539500 · Cited by 1 · see citing works
Pierick, A. R., Pierick, T. A., SCHOLZ, T. D., Zimmerman, M. B., & Reinking, B. E. (2022) · Cardiology in the Young · doi:10.1017/s1047951122000166 · Cited by 1 · see citing works
Ng, D. Y. L., & Merriman, T. E. (2020) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.14844 · Cited by 1 · see citing works
Comparison of the efficacy of two different treatments for venous malformation with rapid drainage
Yang, S., Liu, P., Sun, L., Hu, C., & Hao, Y. (2020) · World Academy of Sciences Journal · doi:10.3892/wasj.2020.67 · Cited by 1 · see citing works
Lertwilaiwittaya, P., & Weber, F. H. (2023) · ACG Case Reports Journal · doi:10.14309/crj.0000000000000961
Carvajal, F., Gil-Galleguillos, P. Y., Rotta, L. C. G.-L., Muñoz-Dimitrov, P. A., & Toledo, P. F. (2024) · Revista de Gastroenterología de México · doi:10.1016/j.rgmx.2024.08.001
Carvajal-González, F. P., Gil-Galleguillos, P. Y., Rota, L. C. G.-L., Muñoz-Dimitrov, P. A., & Toledo, P. F. (2025) · Revista de Gastroenterología de México (English Edition) · doi:10.1016/j.rgmxen.2024.08.005
Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner’s syndrome
Jourdain, A., Leenhardt, R., Popa, I., & Dray, X. (2026) · Clinics and Research in Hepatology and Gastroenterology · doi:10.1016/j.clinre.2026.102782
- Authors
- Kucharska, A., Józefczuk, P., Ksiązyk, M., Labochka, D., & Banaszkiewicz, A.
- Affiliations
- Medical University of Warsaw (PL)
- Venue
- Hormone Research in Paediatrics
- Publisher
- S. Karger AG
- Published
- 2018
- Volume
- 90
- Issue
- 1
- Pages
- 39-43
- ISSN
- 1663-2818 (ISSN-L)
- 1663-2826
- OpenAlex
- W2884715022
- Cited by
- 15
- References
- 29
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 2 · 2020: 2
- FWCI
- 0.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Hormone Research in Paediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal Bleeding Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Surgery › Vascular Malformations and Hemangiomas
- Keywords
- Turner syndrome, gastrointestinal vascular malformations, gastrointestinal bleeding, telangiectasia, small intestine, iron deficiency anemia, hematochezia, melena, vascular anomalies
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Dilatation, Pathologic, Female, Humans, Infant, Male, Middle Aged, Telangiectasis, Turner Syndrome, Case-Control Studies, Gastrointestinal Tract
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