Chronic Cholestasis Associated with Turner’s Syndrome: 12 Years of Clinical and Histopathological Follow-Up

Digestion ◽  
2003 ◽  
Vol 67 (1-2) ◽  
pp. 96-99 ◽  
Author(s):  
Joram Wardi ◽  
Boleslaw Knobel ◽  
Mark Shahmurov ◽  
Enrique Melamud ◽  
Yona Avni ◽  
...  
Digestion ◽  
1999 ◽  
Vol 60 (6) ◽  
pp. 587-589 ◽  
Author(s):  
Annarosa Floreani ◽  
Mariella Molaro ◽  
Anna Baragiotta ◽  
Remo Naccarato

2006 ◽  
Vol 16 (5) ◽  
pp. 430-436 ◽  
Author(s):  
Claus Højbjerg Gravholt ◽  
Kerstin Landin-Wilhelmsen ◽  
Kirstine Stochholm ◽  
Britta Eilersen Hjerrild ◽  
Thomas Ledet ◽  
...  

Background: Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency. Aim: To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects. Materials and methods: Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden. Results: The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0–19, 20–29, 30–39, and 40+ year olds, respectively. Conclusion: Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.


1999 ◽  
Vol 20 (2) ◽  
pp. 108-112 ◽  
Author(s):  
D. Prandstraller ◽  
L. Mazzanti ◽  
F.M. Picchio ◽  
C. Magnani ◽  
R. Bergamaschi ◽  
...  

Author(s):  
C.C.M. Medeiros ◽  
S.H.V. de Lemos-Marini ◽  
M.B. Filho ◽  
E.E. Camargo ◽  
A.O. Santos ◽  
...  

2011 ◽  
Vol 76 (5) ◽  
pp. 314-320 ◽  
Author(s):  
Aneta Gawlik ◽  
Tomasz Gawlik ◽  
Aleksandra Januszek-Trzciakowska ◽  
Hemangini Patel ◽  
Ewa Malecka-Tendera

Thyroid ◽  
2005 ◽  
Vol 15 (9) ◽  
pp. 1061-1066 ◽  
Author(s):  
S. Livadas ◽  
P. Xekouki ◽  
F. Fouka ◽  
C. Kanaka-Gantenbein ◽  
I. Kaloumenou ◽  
...  

2020 ◽  
Vol 7 (5) ◽  
pp. 1166
Author(s):  
Namrata Patil ◽  
Poonam Wade ◽  
Vinaya Singh ◽  
Prachi Gandhi ◽  
Sushma Malik

Turner’s syndrome (TS) is the common chromosomal abnormality. However, it is diagnosed rarely in the neonatal period. In many cases the diagnosis of TS may be delayed until childhood, when evaluation for short stature yields the diagnosis, or adolescence, when combination of growth failure and pubertal delay suggests the possibility of TS. Girls with TS are usually treated with growth hormone and oestrogen replacement therapies for short stature and oestrogen deficiency. A multidisciplinary team is usually required for management. Authors report an 11 day old infant who was diagnosed as Turner’s syndrome. The classic clinical feature, lymphoedema clinched the diagnosis in our case which was confirmed by chromosomal analysis. The infant was discharged and asked to follow up for regular growth monitoring and parents were counselled regarding the condition.                  


2015 ◽  
Vol 26 (3) ◽  
pp. 539-546 ◽  
Author(s):  
Nassiba Alami Laroussi ◽  
Nagib Dahdah ◽  
Frédéric Dallaire ◽  
Johanne Thérien ◽  
Anne Fournier

AbstractIntroductionDilatation of the ascending aorta is described in Turner’s syndrome with variable prevalence (6.8–32%). Reported series typically include patients with associated cardiac anomalies.ObjectiveTo characterise the prevalence, age of onset, and the progress of dilatation of the ascending aorta in Turner’s syndrome patients free of structural cardiac anomalies. Potential risk factors such as karyotype and growth hormone therapy were analysed for correlation with aortic dilatation.MethodsWe carried out a retrospective study with data collected from medical records and echocardiography studies. Patients with Tuner’s syndrome followed-up between 1992 and 2010 with at least two echocardiography studies were eligible. Patients with previous cardiac surgery or under anti-hypertensive medication were excluded. Ascending aorta diameter measurements were adjusted for body surface area, and dilatation was defined as Z-score>2.ResultsThe study population consisted of 44 patients, aged 11.9±7.4 years at the first echocardiogram and 17.9±7.3 years at the last follow-up, with a follow-up duration of 6.0±3.7 years. A total of 13 (29.5%) patients exhibited aortic dilatation during follow-up, suggesting an actuarial estimate of the freedom from aortic dilatation dropping from 86 to 70% and then to 37% at 10, 20, and 30 years of age, respectively. There was no statistically significant impact of karyotype or growth hormone therapy on aortic Z-score progression.ConclusionThe prevalence of dilatation of the ascending aorta in Turner’s syndrome patients free of structural aortic anomalies is comparable with published data with associated lesions. Growth hormone therapy and karyotype had no significant impact; however, longitudinal follow-up is warranted.


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