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Objective: Congenital cytomegalovirus infection is the most common congenital infection. Although screening of congenital cytomegalovirus infection with polymerase chain reaction studies in blood, urine, and saliva samples has been developed in recent years, it is not yet in routine use in any country. Materials and Methods: In our study, cytomegalovirus deoxyribonucleic acid analysis was performed by real-time polymerase chain reaction method in saliva samples taken before the first feeding during the first day following birth in neonates born in a university hospital between January 2021 and January 2022. To support the diagnosis, additionally, cytomegalovirus deoxyribonucleic acid positivity in urine and blood samples was investigated in newborns with cytomegalovirus deoxyribonucleic acid positivity in saliva. Results: Cytomegalovirus deoxyribonucleic acid was investigated in saliva samples of 545 neonates by real-time polymerase chain reaction method in 1-year period and positivity was found in 6 neonates. Since cytomegalovirus deoxyribonucleic acid was found negative by the real-time polymerase chain reaction method in the urine and blood samples of 5 of these neonates, the positivity in the saliva sample was interpreted as false positivity. In 1 case, cytomegalovirus deoxyribonucleic acid positivity was detected in urine and blood samples 5 weeks later. As a result, definite congenital cytomegalovirus infection could not be diagnosed in 545 cases, while possible congenital cytomegalovirus infection was diagnosed in 1 case. Conclusion: It has been concluded that the frequency of congenital cytomegalovirus infection is low in our study group and studying saliva samples showed high false-positive rates. It is seen that saliva is not a suitable sample for detecting cytomegalovirus deoxyribonucleic acid by real-time polymerase chain reaction method. [ABSTRACT FROM AUTHOR]

Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of =32 gestational weeks and =1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17a-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatographytandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of =0.7 (increased from =0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11ß-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11ß-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11ß-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future. [ABSTRACT FROM AUTHOR]

Objective: Prevalence of congenital hypothyroidism (CH) in Turkey at birth was reported to be as high as 1:650 in 2008-2010. Incidence rates of permanent and transient CH separately are unknown due to lack of follow-up data. We aimed to evaluate the impact of transient hypothyroidism on increasing incidence of CH and to determine the natural course and the clinical, biochemical, and imaging characteristics of transient CH. Methods: Baseline and follow-up data of the infants with CH detected at screening in six provinces in the Black Sea Region were analyzed retrospectively during a time period covering the years 2008-2010. Results: Among 138 cases (48% female), 16 (12%) showed transient hyperthyrotropinemia which resolved without intervention. Of the treated 122 cases, 63 (52%) had transient CH. While its frequency was 35% in 2008, it increased to 56% in 2009-2010, following a lowering of the thyroid stimulating hormone cutoff value. The frequency was higher in inland provinces than in coast (67% vs. 43%; p=0.01). Clinical characteristics of permanent and transient cases were similar except femaleto- male sex ratios (1.5:1 vs. 0.6:1; p=0.02). L-thyroxine was discontinued in 70% of transient cases before 3 years of age at a median age of 19 (2-36) months. The only indication for early discontinuation of treatment was a low L-thyroxine dose, which was 1.25±0.27 μg/kg/day at withdrawal time. Conclusion: Our regional follow-up data showed that more than half of newborns with primary CH had transient thyroid dysfunction. In the majority of cases, discrimination between transient and permanent CH can be made before age 3 years, as indicated by cessation of L-thyroxine treatment. [ABSTRACT FROM AUTHOR]

Objective: Since congenital hypothyroidism (CH) is the most important cause of preventable mental retardation, its screening is important. In this present study, it was aimed to evaluate congenital hypothyroidism cases before and after the initiation of screening program in year 2007 in our country. Methods: A total of 400 patients diagnosed with CH at our outpatient clinic were retrospectively evaluated. Age of diagnosis, complaint, clinical signs, and etiological distribution were detected and changes in those parameters were evaluated before and after year 2007, which was the initiation date of our national screening program. Findings: After year 2007, 70.6% of patients were diagnosed in the first month; 21.2% in 1-3 months; 6.5% in 3-6 months, and no patient was diagnosed after 9 months. Before initiation of the screening program, 48.4% of cases were diagnosed in the first month, the percentage was increased to 62.8% after the program; the increase was significant. While mental retardation was detected in 13.3% of patients before the screening, it was decreased to 4% after initiation of the program. An interesting finding was that age of treatment onset in girls was significantly higher than in boys before the screening; there was no difference between them after initiation of the screening. Conclusion: In this present study, it was observed that ages of diagnosis and treatment as well as mental retardation rates were significantly decreased in girls after the screening program, but ideal results have not been reached yet, and is expected to be reached in the future. [ABSTRACT FROM AUTHOR]

The article presents results of a pilot program that was designed to estimate the incidence of biotinidase deficiency in four cities in central Anatolia, Turkey where marriages between relatives are high. Biotinidase deficiency is an inherited metabolic disorder manifested by neurological and cutaneous symptoms which can be cured by the oral administration of biotin. The program showed that children with partial biotinidase deficiency are symptom-free at birth and only appear when infection caused by other illnesses occur.

Unlabelled: A pilot study was performed to determine the incidence of congenital hypothyroidism (CH) in Turkey and to build a model for nationwide screening. From December 1991 to December 1992, 30,097 newborns were screened for CH using a primary measurement of thyroid stimulating hormone in capillary blood on days 3-5 of life. Samples were obtained in collaboration with the ongoing nationwide phenylketonuria screening programme. Eleven cases of primary CH were detected giving the incidence of 1:2736. Recall rate was 2.3%. Replacement therapy with L-thyroxine was started after the confirmation of diagnosis. The median age at the initiation of replacement therapy was 23 days (range 7-35 days).Conclusion: The incidence of CH is notably higher in Turkey than reported in most other countries. Iodine deficiency and/or dyshormonogenesis might contribute to this high incidence. This result emphasizes the necessity of a nationwide screening programme. [ABSTRACT FROM AUTHOR]