An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome

Chintanaboina, Jayakrishna; Shah, Pragnesh R.; Riley, Thomas

doi:10.1155/2015/186718

Cited by 9 publications

(3 citation statements)

References 14 publications

(17 reference statements)

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“…The previous literature has rarely reported a link between TS and the presence of a granulomatous process 8 , 20 , suggesting that this could be attributed to the autoimmune disorders frequently observed in individuals with TS. Our patient has hypothyroidism, which is of autoimmune nature.…”

Section: Discussionmentioning

confidence: 99%

“…Hepatic granulomas are relatively common in liver samples, associated with a variety of systemic conditions, or may be an incidental finding on an otherwise normal liver biopsy 7 . There is only one report of the association of TS with hepatic granulomas 8 . Here, we describe a case of TS associated with hepatic granulomas and the effects of ursodeoxycholic acid (UDCA) treatment on liver tests.…”

Section: Introductionmentioning

confidence: 99%

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Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report

Ali,

Haffar

2024

Annals of Medicine &Amp; Surgery

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Introduction: Turner syndrome (TS) is the most common sex chromosome abnormality in women, caused by a complete or partial absence of the second sex chromosome. The karyotype 46, X,i(Xq) is the underlying cause in about 10% of the cases of TS. Hepatic abnormalities are frequent in Turner syndrome. Granulomas are relatively common in liver samples but are very rarely reported in Turner syndrome. Case Presentation: a 15-year-old female with Turner syndrome attended a consultation for evaluation of elevated liver enzymes. Her chromosomal analysis showed mosaicism 46, X (iso xq)100%. There were no stigmata of chronic liver disease. A liver biopsy showed granulomatous hepatitis. Other causes of hepatic granulomas have been excluded. Ursodeoxycholic Acid (UDCA) therapy leads to the normalization of transaminases. Clinical Discussion: Although Hepatic involvement is common and mostly asymptomatic in Turner syndrome, the mechanism of liver injury is not well understood. The hepatic histological changes in these cases are variable and range from minimal abnormalities to nonalcoholic steatohepatitis (NASH), liver architectural changes, and biliary lesions. Hepatic granulomas are associated with a wide range of systemic disorders but are very rarely reported in tuner syndrome. Normalization of liver enzymes after treatment with Ursodeoxycholic Acid (UDCA) was previously reported, but the importance of this approach is to be determined. Conclusion: Granulomatous hepatitis may be associated with Turner syndrome and may be added to the histological patterns encountered in this disorder.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report

Ali,

Haffar

2024

Annals of Medicine &Amp; Surgery

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“…Although hepatic involvement is seen in the cases in sarcoidosis, clinical symptoms and impairment of the hepatic function are not common (10,11) . Corticosteroids (e.g.…”

Section: Discussionmentioning

confidence: 99%

Prolonged Fever: Case Report

Zahid¹,

Alruwaili²,

Almubarak³

et al. 2021

The Egyptian Journal of Hospital Medicine

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Background: Sarcoidosis is a granulomatous disease with unknown cause that can vary from an asymptomatic condition. Almost half of the patients with sarcoidosis have no symptoms. Case report: 8 year-old female, referred from Abha Hospital as a case of prolonged fever. The fever was low grade, lasted for months, mostly at night, and was associated with fatigue and no weight gain. Systemic review showed abdominal distension, history of knee pain, mouth ulcers and temporary rash on feet. Conclusion: Sarcoidosis is a disease that mostly affects the lung, but sometimes it is outside the lung, as in our cases. Doctors should pay attention to this so that the wrong diagnosis does not lead to complications or death of the patient.

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Heart Transplantation in Children with Turner Syndrome: Analysis of a Linked Dataset

et al. 2018

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Turner syndrome (TS) patients with hypoplastic left heart syndrome (HLHS) have poor single ventricle palliation outcomes; therefore, consideration of other potential management strategies is important. Little is known about heart transplantation (HTx) in this group, as standard HTx databases do not allow for identification of TS. This study describes experiences and outcomes of HTx in TS using a unique linkage between the Scientific Registry of Transplant Recipients and the Pediatric Health Information System databases. All pediatric HTx recipients (2002-2016) with TS were identified in the database using ICD-9 code 758.6 (gonadal dysgenesis) in conjunction with female sex. Patient characteristics and outcomes were described. Fourteen patients with TS were identified who underwent 16 HTx procedures at eight centers. For initial HTx, HLHS was the most common indication (10/14) with a median age of 10 months (IQR 3-73 months). Median transplant-free survival following initial HTx was 4.1 years (IQR 16 days-10.5 years), with all deaths occurring in the first year post-HTx. For patients that survived past 1 year (8/14), follow-up ranged from 4.1 to 10.9 years (median 8.0 years) with no deaths observed. Our cohort demonstrates that while there is a clear risk for early mortality, there is the potential for favorable outcomes following HTx in patients with TS. Therefore, TS should not be viewed as an absolute contraindication to HTx, but careful assessment of candidate risk is needed. Primary palliation with HTx for HLHS and TS may be a reasonable consideration given the poor outcomes of single ventricle palliation in this group. Further research is needed to fully delineate the outcomes and characteristics of this unique population.

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An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome

Cited by 9 publications

References 14 publications

Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report

Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report

Prolonged Fever: Case Report

Heart Transplantation in Children with Turner Syndrome: Analysis of a Linked Dataset

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