Authors :
Dr. Dina Houjjaj; Dr. Sara Mouhmouh; Dr. Sara Yasyn; Dr. Fatima Zahra Azraq; Amal Benbella; Bouchaib Allae Eddine; Abdelhai Adibe Filali; Mohammed Hassan Alami; Rachid Bezad
Volume/Issue :
Volume 11 - 2026, Issue 5 - May
Google Scholar :
https://tinyurl.com/5n8ejym2
Scribd :
https://tinyurl.com/mwad6d3m
DOI :
https://doi.org/10.38124/ijisrt/26May1537
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
Turner syndrome (45,X0) is a rare chromosomal aberration characterized by monosomy of the X chromosome,
affecting 1 in 2,500 live female births. It is one of the major causes of intrauterine fetal death (IUFD) and second-trimester
spontaneous miscarriage. We report the case of a 23-year-old primiparous patient, born from a first-degree consanguineous
union, admitted urgently at 26 weeks of amenorrhea for the expulsion of an IUFD. Morphological examination of the fetus
revealed signs suggestive of Turner syndrome: cystic nuchal hygroma, generalized anasarca, and a morphological
appearance consistent with X monosomy. This case illustrates the importance of antenatal ultrasound follow-up,
multidisciplinary management, and genetic counseling in high-risk pregnancies.
Keywords :
Turner Syndrome, 45,X0, Intrauterine Fetal Death, Cystic Hygroma, Consanguinity, IUFD, Anasarca, Antenatal Ultrasound.
References :
- Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92(1):10–25.
- Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004; 351(12):1227–1238.
- Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2017;177(3): G1–G70.
- Bianco S, Grier D. Turner syndrome and cardiovascular disease: a review. Curr Opin Cardiol. 2013;28(4):354–359.
- Hook EB, Warburton D. Turner syndrome revisited: review of new data supports the hypothesis that all viable 45, X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss. Hum Genet. 2014;133(4):417–424.
- Papp C, Beke A, Mezei G, et al. Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med. 2006; 25(6):711–717.
- Loscalzo ML. Turner syndrome. Pediatr Rev. 2008;29(7):219–227.
- Greenberg F. Nuchal cystic hygroma and fetal Turner syndrome. Am J Med Genet. 1992;44(1):141.
- Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–364.
- Stumm M, Wegner RD, Bloechle M, et al. Interphase FISH with a 22q11 probe on amniotic fluid cells aids in the prenatal diagnosis of del (22q11) syndrome. Prenat Diagn. 2006;26(7):621–627.
Turner syndrome (45,X0) is a rare chromosomal aberration characterized by monosomy of the X chromosome,
affecting 1 in 2,500 live female births. It is one of the major causes of intrauterine fetal death (IUFD) and second-trimester
spontaneous miscarriage. We report the case of a 23-year-old primiparous patient, born from a first-degree consanguineous
union, admitted urgently at 26 weeks of amenorrhea for the expulsion of an IUFD. Morphological examination of the fetus
revealed signs suggestive of Turner syndrome: cystic nuchal hygroma, generalized anasarca, and a morphological
appearance consistent with X monosomy. This case illustrates the importance of antenatal ultrasound follow-up,
multidisciplinary management, and genetic counseling in high-risk pregnancies.
Keywords :
Turner Syndrome, 45,X0, Intrauterine Fetal Death, Cystic Hygroma, Consanguinity, IUFD, Anasarca, Antenatal Ultrasound.