-
Views
-
Cite
Cite
John K. Triantafillidis, El-Fellax Nadia, Florentia Fostira, Georgia Terzoudi, John Fouskas, Stamatios Pinis, Turner's Syndrome, Autoimmune Thyroiditis, and Crohn's Disease in the Same Patient: A Combination Emphasizing the Role of X-Chromosome in Inflammatory Bowel Disease Patients, Inflammatory Bowel Diseases, Volume 16, Issue 7, 1 July 2010, Pages 1088–1089, https://doi.org/10.1002/ibd.21125
Close - Share Icon Share
Extract
To the Editor:
Although the etiology of inflammatory bowel disease (IBD) has not been fully elucidated, genetic studies have revealed certain susceptibility genes. The recently described genome-wide association has confirmed earlier findings related to the NOD2 gene and the IBD5 locus.1 Several associations between Crohn's disease (CD) and gene variants have been identified. Turner's syndrome (TS) is characterized by the partial or complete absence of 1 X chromosome (45,X karyotype).2 The situation is clinically manifested by short stature and ovarian dysgenesis leading to failure of secondary sexual development. Patients also have an increased risk for developing autoimmune diseases.3 X-chromosome abnormalities seem to play a significant role in the pathogenesis of IBD.4 Coexistence of CD and TS has rarely been described.5 We present here a patient with TS and autoimmune thyroiditis who developed severe CD at the age of 24. The patient responded well to the administration of biologic agents.
The patient, a woman age 24, was transferred to our department from a district hospital in order to elucidate the cause and to confront intraabdominal abscesses accompanied by enteroabdominal fistulas. The disease started in May 2008 when she was admitted to the district hospital complaining mostly of moderate to severe abdominal pain, accompanied by fever and vomiting. With a possible diagnosis of acute appendicitis, an exploratory laparotomy and appendectomy were performed. In the next few weeks, 2 subsequent admissions to the same hospital because of persistence of abdominal pain, loss of weight, and fever failed to reach a firm diagnostic conclusion. The patient was transferred to our hospital for further investigation. At the age of 14 a diagnosis of TS was made based on the relevant clinical signs and chromosomal analysis. In 2001 a diagnosis of Hashimoto thyroiditis was made. It is worth mentioning that for almost 8 years she was receiving per os contraceptives. Thus, starting in August 2000 she was receiving estradiol 10 mg/d, and since February 2001 estradiol 10 mg/d plus progesterone 10 mg/d. In June 2001 she received microgynon 30 mg/d for 21 days. From June 2006 she was treated with mercilon 1 tab/d (ethinylestradiol 0.02 mg plus desogestrel 0.15 mg), thyrormon 1 tab/d, and from August 2006 until now T4 85 plus Mercilon. For the last 2 years she suffered from repeated episodes of otitis. She was a nonsmoker. Physical examination revealed short stature (height 136 cm) and weight (35 kg). No signs of hypothyroidism were seen.
