Thirty-seven patients with thalassemina major (TM) were studied to determine the extent and rate of endocrine complications. Mean haemoglobin and ferritin concentrations were 8.8 +/- 0.6 and 3,597 +/- 1,931, respectively. Provocation tests for growth hormone secretion were applied in patients with standing heights below the third centile and/or growth velocities below the 10th centile. Sexual maturation was assessed by using the criteria of Tanner. Glucose metabolism was assessed by fasting plasma glucose and glucose tolerance test. Basal thyroid function was measured and thyrotropin-releasing hormone tolerance test was carried out. Growth retardation was found in 40 per cent of patients and growth hormone deficiency was a prominent cause of growth retardation. Gonadal dysfunction was detected in 47 per cent of patients. Hypothyroidism was observed in 16 per cent and impaired glucose metabolism in 10.8 per cent patients. The high rate of endocrine disturbances indicates the importance of regular follow-up of thalassemia major patients with regard to endocrine complications of the disease.
Topical use of corticosteroids may cause immunosuppression and iatrogenic Cushing's syndrome via hypothalamic-pituitary-adrenal axis. We report two cases with iatrogenic Cushing's syndrome with different clinical outcomes due to abuse of same potent topical steroid clobetasol propionate. One of them died because of fatal disseminated cytomegalovirus infection. The other patient recovered completely. Physicians and parents should be informed about the adverse effects of such potent topical corticosteroids and physicians should prescribe less potent agents, especially during infancy.
A premarital screening program aiming at reducing the incidence of thalassemia major was started under the auspices of the Regional Health Administration in 1995 in the city of Denizli in the Aegean region of Turkey. In this report we assessed the 4-year results of the screening program. All couples who applied for marriage procedures were screened for β-thalassemia trait by automatic red cell indices and Hb A2 determination. The couples at risk were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. From October 1995 to August 1999, a total of 19,804 subjects (9,902 couples) were recruited for this study. The prevalence of β-thalassemia trait with increased Hb A2 was found to be 2.6% (514/19,804). In addition to the thalassemia trait, 22 patients (0.11%) had sickle trait. In 15 of the 9,902 couples, both partners were found to be carriers of the β-thalassemia trait. After genetic counseling, 2 of the 15 planned carrier marriages were canceled. Seven couples declared that they do not want to have a child at present. Prenatal diagnosis was sought by 6 couples. One fetus was found to be normal, 4 had thalassemia minor and 1 had thalassemia major; this pregnancy was terminated by elective abortion. This study indicated that premarital screening is a very useful tool for detecting carrier couples and an effective way of controlling thalassemia major.
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