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Background: The aim of this study is to examine the features of critical congenital heart disease (CCHD). Methods: The study was planned as a retrospective cohort study. Data for the study were obtained through national data collection systems and 2018–2020 CCHD cohort was established. In this study, we divided the patients into two groups: Group 1 included seven primary target diseases of the newborn CCHD screening program and Group 2 included secondary target diseases. Results: There were 9884 CCHD cases, with a prevalence of 27.8 per 10,000 live births. Of the cases 44.4% were in Group 1 (12.3 per 10,000) and 54.8% were in Group 2 (15.2 per 10,000). Of all cases 55.5% were male and the female/male ratio was 1/1.2. While 21.8% of the cases were premature, 23.0% were babies with low birth weight (LBW), 4.8% were born from multiple pregnancies. The highest prevalence of CCHD was found in LBW (84.8 per 10,000), premature infants (57.8 per 10,000) (p < 0.001). The fatality rate in the cohort was 16.6% in the neonatal period, 31.6% in the first year of life respectively. The mean estimated survival time in the birth cohort was 40.0 months (95% CI: 39.5–40.6). The mean survival time for Group 1 diseases was 33.4 months (95% CI: 32.5–34.2), while it was 45.4 months (95% CI: 44.7–46.0) for Group 2 diseases (p < 0.001). Preterm birth, LBW, maternal age and region were evaluated as factors associated with mortality risk. Conclusion: This study showed that CCHDs are common in Turkey and mortality rates are high. There are regional differences in CCHD both prevalence and survival. Improving prenatal diagnosis rates and expanding neonatal CCHD screening are of key importance. [ABSTRACT FROM AUTHOR]

Objective: Subclinical hypothyroidism is the most frequent thyroid dysfunction in pregnancy with an incidence of 2-5% which can easily be overlooked due to the absence of clinical symptoms. Studies have shown that thyroid hormones could alter the level of free beta-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) released from the placenta during early pregnancy. Since these two serum markers are the two of the parameters used in the first-trimester combined screening, we hypothesized that distorted risk calculation results could be obtained from pregnant women with subclinical hypothyroidism. Methods: We conducted a prospective and cohort study at a tertiary university hospital in northwest Turkey between February 2018 and June 2018, involving 250 pregnant women in their first trimester who were seeking care at the obstetrics outpatient clinic. After evaluation of thyroid functions, first-trimester screening was performed in all 250 singleton pregnancies with fetuses at 11+0 to 13+6 gestational weeks. Thyroid-stimulating hormone (TSH) values above 2,5 mIU/L were considered high. The correlation between the results and parameters of the first-trimester combined screening and thyroid hormone values was examined. Results: Among the participants, after analyzing the fT4 values, all 35 pregnant women with high TSH values were diagnosed with subclinical hypothyroidism. We observed a statistically weak negative correlation between TSH and ß-HCG, which was expected given the similarities in their alpha subunits. There was no statistically significant correlation between TSH and PAPP-A values, combined risk scores, and age risk scores of first-trimester screening. As a matter of course, combined risk scores of first-trimester screening were found to be statistically lower in younger mothers. Conclusion: Pregnant women with normal thyroid functions and subclinical hypothyroidism were investigated for alterations in first-trimester screening parameters and risk scores. As a result, no statistically significant correlation was found between subclinical hypothyroidism and first-trimester screening. [ABSTRACT FROM AUTHOR]

Background: Transient hypothyroxinemia of prematurity (THOP) is defined as a low level of circulating thyroxine (T4), despite low or normal thyroid-stimulating hormone (TSH) levels. Aims: We aimed to evaluate the incidence of THOP, the clinical and laboratory findings of preterm infants with this condition and the levothyroxine (L-T4) treatment. Methods: Preterm infants (n = 181) delivered at 24–34 weeks of gestation were evaluated by their thyroid function tests that were performed between the 10th and 20th days of postnatal life and interpreted according to the gestational age (GA) references. Clinical and laboratory characteristics of the patients with THOP and normal thyroid function tests were compared. Patients with THOP and treated with L-T4 were compared with the ones who were not regarding laboratory, and clinical characteristics. Results: Incidence of hypothyroxinemia of prematurity was 45.8% (n = 83). Euthyroidism, primary hypothyroidism, and subclinical hypothyroidism were diagnosed in 47.5% (n = 86), 5% (n = 9) and 1.7% (n = 3) of the patients, respectively. Mean birth weight (BW) and GA were significantly lower in the hypothyroxinemia group than in the euthyroid group (p < 0.001). L-T4 was started in 43% (n = 36) of the patients with THOP. Treatment initiation rate was 44.4% (n = 16) in 24–27 wk, 41.6% (n = 15) in 28–30 wk, and 13.8% (n = 5) in 31–34 wk. As the GA increased, the incidence of THOP and the rate of treatment initiation decreased (p < 0.001). The lowest free thyroxine (FT4) cut-off value was 0.72 ng/dl in the treated group. In addition, incidences of vancomycin + amikacin, caffeine, dopamine treatments, RDS, IVH, BPD, central catheter, FFP transfusion, and ventilator support were higher in the treated group (P < 0.05). Conclusion: This study revealed that prevalence of THOP increased as the GA and BW decreased. As the GA decreased, THOP patients requiring L-T4 treatment increased. Additionally, association with comorbid diseases increased the requirement of treatment. [ABSTRACT FROM AUTHOR]

Background: Mutation occurring in fragile X mental retardation 1 (FMR1) gene is acknowledged as the most common cause for X chromosome linked intellectual disability/mental retardation (XLID/XLMR). This gene harbors unstable CGG triplet repeats within its 5'UTR (untranslated region). Loss of function of the FMR1, which is mostly due to the hypermethylation of the CpG islands on its promoter region, causes fragile X syndrome (FXS). Displaying different frequencies, the FXS is a common phenomenon all over the world, the studies focus mostly on the Caucasian population. Purpose: We aimed to reveal the CGG repeat number distribution and the mutation profile of the FMR1 gene in clinically pre-diagnosed FXS patients and in family members of the patients who were diagnosed as full mutation. Methods: We evaluated the copy number of the CGG triplets in 767 FXS patients and their family members in Antalya province by employing fragment analysis molecular technique. We also assessed, by segregation analysis, whether there is unusual genetic transmission pattern of CGGs. Results: The molecular analysis shows the most common copy numbers of CGGs are thirty, twenty-nine and thirty-one. Present study is the first report concerning Antalya city of Turkey about the frequencies of the normal CGG repeats number, grey-zone, pre-mutation and full mutations, we updated our molecular test results with two unusual transmittance patterns of the CGG repeats. Conclusion: Since the potential of CGG repeat properties may cause differential intergenerational transmission patterns, its' population specific evaluation can contribute to provide a better genetic diagnosis and genetic counseling services for the related clinical entities. [ABSTRACT FROM AUTHOR]

Objectives: It was aimed to investigate the outcomes of babies referred to a tertiary health center in Turkey for evaluation primary congenital hypothyroidism (CH) through newborn screening., Methods: The hospital files of 328 newborns who were referred for CH from newborn screening between June 2013 and June 2020 were retrospectively reviewed. The newborns were evaluated with their clinical characteristics at admission, as well as their follow-up data and final diagnoses., Results: Sixteen (4.9 %) newborns were diagnosed with transient neonatal hyperthyrotropinemia after follow-up. Treatment was initiated in 166 (50.6 %) of the cases with a diagnosis of CH. The median age at initiation of treatment was 17 days (5-69). Treatment was initiated in 88.3 % of the cases in the first month of the life. After at least 3 years of follow-up, 30/120 (20.0 %) of the cases were diagnosed with permanent CH and 11/30 (36.7 %) of them were diagnosed with thyroid dysgenesis. All of the cases who used >37.5 µg per day levothyroxine at the age of 1 or 2 years were diagnosed with permanent CH during their follow-up. For the prediction of transient CH, the sensitivity and specificity of levothyroxine doses of ≤25 µg per day at 1 year of age were calculated as 96.2 and 46.2 %, and for 2 years of age, the sensitivity and specificity were calculated as 97.8 and 65.2 %., Conclusions: In this cohort, 10 % of all referrals result in permanent CH. Thyroid imaging with ultrasonography and levothyroxine dose during follow-up can be guiding in predicting permanent CH., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Aim: To evaluate cases referred from the congenital hypothyroidism (CH) new-born screening program. Materials and Methods: One hundred and thirty-five cases which were referred between January 2017 and July 2019 were included in the study. Results: Fourty eight of 135 cases (35.6%) were diagnosed as CH. The mean onset of treatment was 17.31±9.92 days. Clinical findings suggesting hypothyroidism were detected in 27 patients (56.2%) and goiter was detected in 2 patients (4.1%). According to imaging findings, 16 (35.5%) patients were diagnosed as dysgenesis, [1 (2.2%) as agenesia, 3 (6.7%) as ectopia, and 12 (26.6%) as hypoplasia], 11 were diagnosed as dyshormonogenesis (24.5%), and 18 were diagnosed as eutopic thyroid (40%). The mean levothyroxine dose was 12.7±2.5 mcg/kg/day and the mean onset of treatment in 30.4% of diagnosed patients was within the first 14 days and 93.3% were within the first 30 days. Conclusion: Dysgenesis and dyshormonogenesis are the most common detectable causes of CH. The normal localization of the thyroid gland in about half of the patients suggests that transient causes of CH may be more common than expected. Considering that only 1/3 of the patients were treated in the first 2 weeks, it was thought that the referral of patients is still an important problem and it should be done more promptly. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate cases referred from the congenital hypothyroidism (CH) newborn screening program. Methods: Infants referred to Pediatric Endocrinology between 30.09.2015 - 01.04.2018 because of suspected CH identified by National Neonatal Screening Program were prospectively evaluated. Results: Of the 109 newborns referred to our clinic, 60 (55%) were diagnosed with elevated neonatal thyroid stimulating hormone (TSH). The diagnosis of elevated neonatal TSH was made in 52 (47.7%) and eight (7.3%) infants at initial evaluation and after follow up, respectively of all referrals with 86.7% (52/60) diagnosed at initial visit. The median first and second heel prick times were 1.8 (0-7) and 8.72 (4-30) days. The median age at starting treatment of the infants diagnosed as a result of initial evaluation was 22.13 (7-53) days. Clinical findings associated with CH were present in 19 (36%) of patients. Etiology in patients diagnosed with elevated neonatal TSH on admission was: agenesis in one (2.08%); ectopia in one (2.08%); hypoplasia in 14 (29.16%); normal gland in situ 16 (33.3%); and hyperplasia in 16 (33.3%). The median time to normalization of TSH and free thyroxine concentrations after treatment initiation was 11.02 (4-30) and 9.03 (3-30) days, respectively. Conclusion: The rate of diagnosis in the first month was found to be 87%. The etiological incidence of both dysgenesis and dyshormonogenesis was equal at 33.3%. The majority of cases with normal thyroid gland will be diagnosed with transient hypothyroidism but some of them may be diagnosed with thyroid dyshormonogenesis so the rate of dyshormonogenesis will increase later after final diagnosis. [ABSTRACT FROM AUTHOR]

An editorial is presented on the newborn or neonatal screening (NBS) for Congenital Adrenal Hyperplasia in Turkey. Topics include neonatal screening attempts starting at Hacettepe University for phenylketonuria; congenital adrenal hyperplasia as the most common form of primary adrenal insufficiency in childhood. Article also presents pilot study of NBS to estimate incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy.

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]

Objective: To assess the Turkish National Newborn Screening Programme (NNSP) for congenital hypothyroidism (CH). Retrospective study based on the data from NNSP. Methods: Since December 2006, a nationwide screening programme for CH has been conducted in Turkey by the Turkish Directorate of Public Health (TDPH) in cooperation with several institutions. We evaluated the database between January 2008 and July 2010 of this programme. According to the methodology of the NNSP, between three and five days of age (or at discharge from the hospital, if this occurs earlier) blood specimens were routinely collected from neonates on filter paper, by puncturing the heel. The accepted thyroid-stimulating hormone cut-off level for recall was 20 mU/L initially and 15 mU/L subsequently. The incidence of possible CH by years was reported. Results: During the evaluation period, 3223765 newborns were tested. The mean annual incidence of possible CH showed a gradual increase over the years (1:888 in 2008, 1:592 in 2009, and 1:469 in 2010). Regional differences were noted. Although the mean age of blood sampling did not change by years, the mean age at notification for suspected CH decreased from 19.2 to 15.7 days from 2008 to 2010. Conclusions: We reported the first assessment of NNSP in Turkey. An improvement in performance measures for the CH screening programme has been noted. Knowledge on incidence of confirmed CH is not yet available in the database. [ABSTRACT FROM AUTHOR]

Objective: Developmental defects of the thyroid gland are the most frequent causes of permanent congenital hypothyroidism. This study aimed to investigate the epidemiological features of patients with thyroid dysgenesis (TD). Methods: Medical records of 234 patients with TD followed between the years 2008 and 2010 were evaluated retrospectively. Diagnosis was made by ultrasonography. Results: Of 234 patients, 120 (51.3%) were male and 114 (48.7%) were female. Male to female ratio was 1.08 and there were no significant differences in epidemiologic and clinical findings between girls and boys. One hundred eighty-three patients (78.2%) were diagnosed as hypoplasia, 35 (14.9%) as thyroid agenesis, 4 as ectopic thyroid gland and 12 as hemiagenesis. The mean maternal age of the group was 28.9±0.4 years (range 18 to 45 years), which is significantly higher than the recently reported mean maternal ages for Turkish women. Conclusions: Advanced maternal age was more prevalent in patients with TD. Our clinical and epidemiologic findings suggested no evidence of sexual dimorphism. [ABSTRACT FROM AUTHOR]

The article highlights congenital hypothyroidism in Turkey, where it has a prevalence of one in 2,736 newborns that is caused by the dysgenesis of the thyroid gland. A defect in thyroid peroxidase (TPO) is seen in most dyshormonogenesis, which has 60 known different mutations. In the study conducted by the authors of three Turkish families, they found that there are two different mutations of the TPO gene and a later genotyping of the polymorphic markers revealed that the families share a common haplotype.

Objective: The aim of the present study was to evaluate the urinary I excretion of pregnant women in Malatya Province, eastern Turkey. Design and setting: A cross-sectional study was performed on pregnant women in urban and rural settlements of Malatya Province. Subjects: Urinary I excretion was measured for 824 pregnant women who were randomly selected using a probability-proportional-to-size sampling methodology. Results: Median urinary I concentration (UIC) of pregnant women was 77.4 μg/l. The percentage of pregnant women with UIC below 100 μg/l was 83.3. Conclusion: These results indicate that I deficiency disorders (IDD) is still a problem in Malatya Province and most certainly in other parts of the country. Proper monitoring of I content of the salt sold or used in the area, in order to strengthen the IDD intervention programme, is suggested. [ABSTRACT FROM AUTHOR]

Background: The incidence of congenital hypothyroidism (CH) is expected to be elevated in iodine-deficient areas. In this study, the authors aimed to determine the incidence of transient and permanent CH in a large city which is known to be in the zone of moderate iodine deficiency. Methods: Newborn babies in Bursa, Turkey, were screened by measurement of serum thyroid-stimulating hormone (TSH) obtained by heel prick. The babies who had a serum TSH >20 mIU/L were recalled for measurement of T4 and TSH in venous serum. Results: A total of 11 770 newborns were screened over a period of 9 years. The incidence of CH was found to be 1/840. However, after excluding the transient cases, permanent CH was diagnosed in 1/2354. It was impossible to distinguish transient patients from permanent CH by initial laboratory tests ( P > 0.05). The estimated power of the study in determining the incidence of CH in the population was 90% ( P < 0.05). Conclusion: The authors conclude that the incidence of CH is very high in their population which warrants a country-wide neonatal screening program. Since transient cases cannot be distinguished and untreated transient hypothyroidism may also cause mental retardation, treatment must be started as early as possible with frequent monitoring to optimize the outcome and identify the transient patients. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate the incidence of congenital hypothyroidism (CH) in the West Black Sea Area, a mild-to-moderate iodine deficient area in Turkey. Neonatal screening for CH was performed using blood specimens collected onto filter paper. Thyrotropin[thyroid- stimulating hormone (TSH)] was measured by radioimmunoassay, and a value>20 µU/ml was considered as cut-off point for re-examining. Venous serum was obtained to measure TSH, thyroxin (T4), free T4 (FT4) and thyroglobulin (TG). To determine the iodine status of the study area, median urinary iodine was measured in 212 randomly selected neonates and their mothers. A total of 18606 neonates were screened from three cities (Bolu, Düzce, and Zonguldak) between 2000 and 2002. With a cut-off point of TSH value>20 µU/ml, the recall rate was found 1.6%. Eight cases of CH were diagnosed (incidence 1/2326). There were three cases of transient hypothyroidism, with an incidence of 1/6202. Twenty-six percent of the TSH values was greater than 5 µU/ml. Median urinary iodine concentrations in neonates and their mothers were 85 µg/l and 40 µg/l, respectively. The incidences of CH, transient hypothyroidism and the recall rate were higher in our study area than many countries in Europe. The study area has been affected by mild-to-moderate iodine deficiency. Neonatal screening for CH should be introduced in Turkey without delay. A national comprehensive infantile hypothyroidism and iodine prophylaxis policies should be developed. [ABSTRACT FROM AUTHOR]

Background: Pituitary resistance to thyroid hormone (PRTH) is often seen in congenital hypothyroidism (CH), presenting as elevated thyrotropin (TSH) values despite (high-)normal thyroid hormone (TH) values achieved by levothyroxine treatment. In this study, we describe a girl with CH who was referred because of difficulties interpreting thyroid function tests. She was thought to have PRTH associated with CH, but genetic studies discovered a pathogenic variant in THRB , causing resistance to TH (RTH-β). Methods: Clinical, genetic, and biochemical data of the proband's family were collected. Results: The 3-year-old girl was diagnosed with CH due to a homozygous pathogenic c.470del p.(Asn157Thrfs*3) SLC5A5 variant in the neonatal period. She needed a notably high levothyroxine dose to normalize TSH, leading to high free thyroxine levels. There were no signs of hyperthyroidism. Sequencing identified a heterozygous pathogenic c.947G>A p.(Arg316His) THRB variant. Conclusions: To our knowledge, this is the first report of concomitant SLC5A5 and THRB variants causing CH and RTH-β.

This study aimed to compare the hearing screening results of Syrian and Turkish newborns and reveal the risk factors faced by Syrian refugees. The neonatal hearing screening results of newborns born in, or admitted to, the Sanliurfa Research and Education Hospital, Sanliurfa/Turkey, between January 01, 2018, and December 31, 2018, were analyzed. Newborns with congenital anomalies and syndromes were excluded from the study. Also, the neonatal hearing screening results and risk factors of newborns diagnosed with hearing loss were analyzed. A total of 6034 Syrian and 37,219 Turkish newborns were included in the study. Hearing loss was found in 84 (0.2%) of 37,219 Turkish newborns and 26 (0.4%) of 6034 Syrian newborns. In this study, the risk factors such as consanguineous marriages, familial hearing loss, hospitalization in intensive care, prematurity, low birth weight (less than 1500 g), hyperbilirubinemia, use of ototoxic drugs, history of congenital infection, blood incompatibility, and trauma at birth were found in newborns with hearing loss. The risk factors were present in 41.7% of Turkish newborns and 65.4% of Syrian newborns with hearing loss. The high hearing loss rates found in Syrian newborns showed how accurate it was to include the Syrian migrants born in Turkey into the neonatal hearing screening program and the newborns with hearing loss into appropriate rehabilitation programs. Further studies should focus on the risk factors faced by Syrian migrants so that the number of Syrian newborns with hearing loss can be reduced. [ABSTRACT FROM AUTHOR]

Increased intestinal permeability (IIP) precedes several autoimmune disorders. Although Hashimoto’s thyroiditis (HT) is the most common autoimmune disorder, the role of IIP in its pathogenesis had received little attention. Zonulin plays a critical role in IIP by modulating intracellular tight junctions. Rise of serum zonulin levels were shown to indicate IIP in human subjects. In this case-control study, we examined the hypothesis that patients with HT have IIP. We studied 30 children and adolescents with HT, and 30 patients with congenital hypothyroidism (CH) matched for age, gender and body mass index (BMI). Serum zonulin levels, free thyroxine (fT4), thyroid stimulating hormone (TSH), anti-thyroglobulin antibody and anti-thyroid peroxidase antibody were measured. Zonulin levels were significantly higher in patients with HT than patients with CH (59.1±22.9 ng/mL vs. 43.3±32.9 ng/mL, p=0.035). In patients with HT, zonulin levels were positively correlated with weight (r=0.406, p=0.03), BMI (r=0.486, p=0.006) and levothyroxine dose (r=0.463, p=0.02). In patients with CH, zonulin levels were positively correlated with age (r=0.475, p=0.008), weight (r=0.707, p<0.001), BMI (r=0.872, p<0.001) and levothyroxine dose (r=0.485, p=0.007). After adjusting for age, weight, TSH and fT4 levels, serum zonulin was only associated with levothyroxine dose in patients with HT (R 2 =0.36, p=0.05). In patients with CH, only weight was associated with zonulin levels (R 2 =0.62, p<0.001). In conclusion, higher zonulin levels in children and adolescents with HT suggested IIP in these patients. Additionally, the association between zonulin levels and levothyroxine dose might imply a relationship between serum zonulin and disease severity.

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]

Background: Additional congenital anomalies have often been found in patients with neural tube defect (NTD). We aimed to find out the clinical features, short term prognosis, treatment approaches, and systemic anomalies of NTD patients in the Konya region., Method: A total of 186 newborn babies with NTD were retrospectively included in the study and all were assessed in detail for congenital anomalies and clinical features., Results: When the application month of the patients was examined, it was seen that the most frequent month was July. Of 186 babies, 101(54.3%) had meningomyelocele, 53 (28.5%) had meningocele, 13 (7.0%) had encephalocele, 16 (8.6%) had spina bifida occulta, and 4 (2.1%) had anencephaly. Of these patients, 97 (52.2%) were male and 89 (47.8%) were female. Hydrocephalus was an almost constant finding and was found in 140 (75.3%) patients. 51 (27.4%) patients had congenital heart disease (CHD). The most common CHD was atrial septal defect 22.3%. Orthopedic anomaly was detected in 51 (27.4%) patients, nephrological anomaly was found in 47 (25.3%) of the cases, congenital hypothyroidism was diagnosed in 14 (7.5%) patients with NTD. The mortality rate of patients diagnosed with NTD was 7.5%. The rates of premature delivery and consanguinity between parents were higher in patients with NTD., Conclusions: Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with NTD, and these anomalies significantly increase their morbidity and mortality. All newborn babies with NTD should be screened for additional congenital anomalies and evaluated with more organized, multidisciplinary methods., (© 2019 Wiley Periodicals, Inc.)

The article discusses the highlights of the 22nd European Society for Paediatric Endocrinology (ESPE) Summer School and the 47th Annual Meeting of ESPE held in September 2008 in Sapanca and Istanbul, Turkey, respectively. Participants at the Summer School were united at in their desire to eliminate the most common preventable form of mental retardation through support for newborn screening programs for congenital hypothyroidism.

Background: Newborn screening tests have been designed to identify infants with severe disorders that are relatively prevalent and treatable or controllable. Comparing to other countries, the incidence of these diseases are very high in Turkey where the rate of consanguineous marriage is high., Methods: In this article, it is aimed to evaluate the development and organization of newborn screening programs in Turkey which include phenylketonuria, congenital hypothyroidism and biotinidase deficiency screenings. The point reached today, limitations of the program, expectations and projects for the future are discussed., Results: Today, the point reached in screening programs of the country is appreciable. While the screening rate of the live born babies was 4,7% in 1987, this rate reached to 95% by 2008. Predicted target for newborn screening program at the strategic plan of Ministry of Health for 2010-2014 was to enhance this rate above 95% by the end of 2012. It seems that the envisaged goal has been reached., Conclusion: National newborn screening program appears to be conducted successfully and extensively as a result of political determination and performance of health care workers who are in charge of this program. Nevertheless, limited numbers of the nutrition and metabolism clinics and specialists on these branches have caused some access difficulties, waste of time, and financial loss. Therefore, special planning to improve quality and the number of the clinics would be useful., (© 2013 Wiley Periodicals, Inc.)

Congenital primary hypothyroidism can be caused by reduced or absent responsiveness of the thyroid gland to thyrotropin (TSH), which normally binds to the thyrotropin receptor (TSHR) and exerts its effects mainly by stimulating intracellular cyclic adenosine monophosphate (cAMP). So far 22 causative loss-of-function mutations in the TSHR gene have been reported as occurring in families from different ethnic and geographical origins. We here report a family of Turkish origin in which all four children were diagnosed as having congenital primary hypothyroidism. A homozygous nonsense mutation in codon 609 (R609X) of the TSHR gene was identified in all affected individuals as the underlying molecular defect. The mutation leads to a truncated TSHR, which is likely to be biologically inactive. This mutation has been identified before to cause resistance to TSH in a large Bedouin kindred where two affected hypothyroid individuals were also resistant to adrenocorticotrophic hormone (ATCH). Interestingly none of the affected individuals in our family had symptoms consistent with hypocortisolism, which excludes a direct impact of this TSHR mutation on the hypothalamicpituitary-adrenal axis.

In this retrospective investigation, 1000 cases of congenital hypothyroidism followed-up in the Pediatric Endocrinology Unit at Hacettepe University Children's Hospital between 1964-1989 were evaluated with respect to age at diagnosis, main complaints, symptoms and physical findings. The mean age at diagnosis was 49.22 months, with 55.4 percent of patients diagnosed after two years of age and only 3.1 percent during the neonatal period. The main complaints of the patients were growth failure (26.7%), inability to speak (21.4%), and inability to walk (18.1%). The physical signs and symptoms most commonly detected by the physician were hypotonia (72%), constipation (66.8%), cretinoid face (64.6%), and macroglossia (64.6%). These results emphasize the necessity for routine neonatal screening programs to be established in Turkey, with the aim of detecting congenital hypothyroidism.

A Turkish family with frequent intermarriages is described, in which two siblings were born with persistent forms of congenital hypothyroidism, in the elder child concomitant with absent radioactive thyroid imaging. The mother was clinically euthyroid throughout the period of observation, but showed in addition to thyroid microsomal antibodies, high levels of immunoglobulins blocking the trophic action of TSH. These maternal growth blocking antibodies were transiently present in the youngest of the siblings (from birth to 2 months of age). She had a relatively mild form of congenital hypothyroidism (T3: 33 micrograms/100 ml; T4: 3.9 micrograms/100 ml). The older sibling, with proven non-functioning thyroid tissue (negative thyroidscan, T4: 0.4 microgram/100 ml) produced the growth-blocking immunoglobulins herself and may thus represent a juvenile form of thyroid autoimmunity with a very early onset. An aunt and uncle of the children, both hypothyroid since birth, were at the age of 19 and 18 years weakly positive for growth blocking immunoglobulins. This study indicates that familial forms of congenital hypothyroidism are probably complex and may be brought about by maternal to foetal passage of thyroid reactive autoantibodies, but also by the inheritance of a trait for thyroid autoimmunity. In some cases these two mechanisms might act in conjunction.