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Endocrine Abstracts (2018) 56 P1002 | DOI: 10.1530/endoabs.56.P1002


1Pediatrics Department, Emergency and Intensive Care unit Service, CHU Hedi Chaker, Sfax, Tunisia; 2Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia.

Objective: Considering that the patients with Turner syndrome (TS) have a high prevalence of autoimmune disease, an early investigation for digestive system diseases should be carried out in those with TS.

Case 1: A 13-year-old girl, followed for Turner’s syndrome with characteristic facial dysmorphia, developed glaring diarrhea. Colon and endoscopic endoscopic examinations have led to ulcerative colitis. It was put pentasa with a favorable evolution. With a pubertal delay at the age of 15, thyroid assessment was performed concluding hypothyroidism secondary to Graves’ disease. Replacement therapy with thyroid hormones has been prescribed.

Observation 2: An 11-year-old girl without dysmorphia is followed for celiac disease. The evolution under a well-monitored gluten-free diet was marked by the persistence of a weight-loss delay at −3 DS. The search for other associated pathologies has been carried out. The blood karyotype concluded that mosaic Turner syndrome was present and the patient was put on growth hormone therapy.

Observation 3: A 10 years old girl was consulted for short stature. She had also a minor dysmorphic syndrome. Hormonal investigations revealed hypergonadotropic hypogonadism. Pelvic ultrasonography showed a hypoplastic Uterus without visualization of the ovaries. Cytogenetic analysis of peripheral blood revealed a karyotype with 45 chromosomes with one X chromosome missing (45, X). Laboratory investigations revealed normal hematological and biochemical parameters except AST (107 UI/l>45 ui/l), ALT (87 UI/l>45 ui/l) and ALP (819 ui/l>200 ui/l). Hepatotoxic medications and alcohol was ruled out. Abdominal ultrasonography was normal. Serology Hepatitis B and C was negative. Immunological survey showed a Anti-mitochondrial antibodies, Anti-smooth muscle antibody and Anti-LKM1 antibody were negative. But she had a positive Anti-TPO antibody with normal thyroid function tests.

Conclusion: Continuous long-term follow-up is required in patients with Tuner’s disease in order to detect early the associated diseases and to prescribe appropriate treatment.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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