Endocrine Abstracts

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.