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• W2394776428 abstract "Original ArticlesNeonatal Screening for Congenital Hypothyroidism in Riyadh: Analysis of Six Years' Experience Nasir A.M. Al-Jurayyan, FRCPC, FAAP Abdulrahman A. Al-Nuaim, FRCPC, FACP Merfat A. Redha, MD Mahmoud I. El-Desouki, FRCPC, ABNM Abdullah S. Al Herbish, FRCPC, FAAP Abdullah M. Abo Bakr, MsEd, FRCPC Abdulrahman A. Al Swailem, FRCP Yaqoub Y. Al Mazrou, and PhD, FRCGP Abdullah Al DeressMSc Nasir A.M. Al-Jurayyan Address reprint requests and correspondence to Dr. Al-Jurayyan: Regional Program Coordinator, Associate Professor and Consultant Pediatric Endocrinologist, Chief of Medical Staff, College of Medicine and KKUH, P.O. Box 2925, Riyadh 11461, Saudi Arabia. From the College of Medicine, King Saud University, Riyadh Search for more papers by this author , Abdulrahman A. Al-Nuaim From the College of Medicine, King Saud University, Riyadh Search for more papers by this author , Merfat A. Redha From the Ministry of Health, Riyadh Search for more papers by this author , Mahmoud I. El-Desouki From the College of Medicine, King Saud University, Riyadh Search for more papers by this author , Abdullah S. Al Herbish From the College of Medicine, King Saud University, Riyadh Search for more papers by this author , Abdullah M. Abo Bakr From the College of Medicine, King Saud University, Riyadh Search for more papers by this author , Abdulrahman A. Al Swailem From the Ministry of Health, Riyadh Search for more papers by this author , Yaqoub Y. Al Mazrou From the College of Medicine, King Saud University, Riyadh Search for more papers by this author , and Abdullah Al Deress From the Ministry of Health, Riyadh Search for more papers by this author Published Online:1 Jan 1996https://doi.org/10.5144/0256-4947.1996.20SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutAbstractThe regional screening program for congenital hypothyroidism (CH) in Riyadh Province was started as a pilot study in December 1988. By September 1990, the program covered all deliveries at the MiniPstry of Health (MOH) and King Saud University hospitals. The program utilizes cord serum thyroid-stimulating hormone (TSH) with a low recall rate of 0.1%. The average cost per specimen was SR 12 (US$ 3.20). Among 283,647 infants screened, 83 infants were confirmed to have CH (incidence 1:3417). In 17 infants, however, the diagnosis was not confirmed due to difficulties in recall. Eleven infants with cord serum TSH of more than 100 mU/L proved to be clinically and biochemically euthyroid at recall. Three of these were secondary to maternal propylthiouracil (PTU) therapy. The female to male ratio was 1.5:1. The majority of infants lacked clinical symptoms and signs of hypothyroidism. Thyroid scans showed the most common etiology to be thyroid ectopy (50%), followed by dyshormonogenesis (26%) and athyrosis (24%). Although there was no significant difference in the mean cord T4 values among the different groups, the mean T4 value at recall in the athyrotic group was significantly (P <0.001) lower than the cord results (14.8 versus 62.7) and that is of recall for the ectopic and dyshormonogenesis groups (14.8 versus 47.0 and 51.3 respectively). There was no significant difference in the mean TSH among the different groups in the cord and recall samples. Skeletal maturation was more delayed in the athyrotic group. The mean age at the time of recall was 16.4 days (range 4 to 64), and the mean age at the start of therapy was 17.8 days (range 5–64).IntroductionMass population screening of newborn infants for congenital hypothyroidism (CH) was introduced in 1974 and is now a routine and effective means of early diagnosis throughout most of the developed world. The incidence worldwide is 1:3500 to 5500 live births.1In Saudi Arabia, individual neonatal screening programs for CH have been established in several hospitals.2-5 As the main bulk of deliveries take place at Ministry of Health (MOH) hospitals, a pilot project was undertaken at MOH hospitals in Riyadh and showed a high incidence of 1 in 2666.6 In light of this, in 1989 the MOH initiated a national screening program for CH which covered all 19 health regions.6-8In this report, we analyze our data and discuss our experience at the regional screening program for CH in Riyadh Province, where a total of 283,647 infants were screened over the period between December 1988 and April 1995. This comprehensive program was in full operation by September 1990 and currently covers all deliveries at the MOH and King Saud University hospitals. The catchment area extends 250 km north to Zulfi, 550 km west to Afif and 800 km south to Wadi Al Dawaser. The average annual birthrate is 60,000.9MATERIAL AND METHODSConsidering the obstetric practice in Saudi Arabia and to achieve the maximum diagnostic benefits, the program utilizes cord serum thyroid-stimulating hormone (TSH). At the time of delivery, 4 cc of cord blood is collected in a sterile tube from the placental side of the cord before delivering the placenta. Plasma is then separated immediately and kept at –20°C until the samples are delivered to the Central Laboratory in Riyadh. Samples from within Riyadh City are delivered daily while those from peripheral hospitals are delivered by mail every three to seven days. During transportation, samples are kept in insulated containers.TSH is assayed on single specimens using the Delfia Immunofluorescent kits (Pharmacia Diagnostic, Wallacoy, Finland). Total thyroxine (T4), reference normal range 80-160 nmol/L, is measured when necessary using Delfia kits. For quality control of TSH and T4 determinations, at least three control sera (normal, low and high levels) were analyzed in each series.6 The initial screening limits, i.e., during the pilot study, were TSH concentration more than 60 mU/L or 20-60 mU/L, with a low T4 concentration of less than 80 nmol/L in the same blood sample. The screening limits were later modified (Figure 1). Infants are recalled if TSH is greater than 60 mU/L or if TSH is between 30 and 60 mU/L with T4 of less than 80 nmol/L.Figure 1. Algorithm for TSH interpretation.Download FigureTable 1. Screening test results.Table 1. Screening test results.Congenital hypothyroidism was confirmed and infants were followed up at the King Khalid University Hospital (KKUH), Riyadh. Clinical data were obtained at the time of diagnosis and include sex, age, nationality, consanguinity, family history of thyroid disorders, drug or irradiation during pregnancy, and signs and symptoms of hypothyroidism. Investigations included repeat serum thyroid function studies, antithyroglobulin and antimicrosomal antibodies (hemagglutination method), and x-ray of the knees for assessment of bone age (Greulich and Pyle). The bone age was indicated as delayed if the reading was greater than 2 SD below the mean for age. Thyroid scan to identify the etiology was performed when feasible, using sodium pertechnetate (Tc 99m). Perchlorate discharge test was performed in patients with suspected dyshormonogenesis, as described by Al-Nuaim et al.6Patients were treated initially with L-thyroxine 10 to 15 μg/kg/day, which was adjusted thereafter based on clinical and biochemical findings.1RESULTSDuring the period under review, a total of 283,647 newborn infants were screened. The average cost per specimen was SR 12 (US$ 3.20). Table 1 summarizes the screening results. The recall rate was 0.1%. There was, however, a significant difference among the two groups. This could be attributed in part to the different methods of transportation. The overall incidence of confirmed CH was 1:3417. The female to male ratio was 1.5:1. Unfortunately, confirmation was not possible for 17 infants, either because of neonatal deaths (eight cases), travel outside the country (two cases), or lack of correct addresses and telephone numbers (seven cases). Some of these cases could represent true cases of CH. Furthermore, 11 infants with cord serum TSH of more than 100 mU/L had normal thyroid functions at the time of recall (Table 2). These infants lacked any clinical manifestations of hypothyroidism.Table 2. Clinical and biochemical characteristics in 11 infants with transient abnormal thyroid screening.Table 2. Clinical and biochemical characteristics in 11 infants with transient abnormal thyroid screening.Symptoms and signs noted at the time of recall are shown in Table 3. The most common symptoms were prolonged neonatal jaundice, dry skin and constipation, while the most common signs were large fontanelles, coarse facial features and umbilical hernia. Hypotonia was present in six (8.2%) infants. In one, it was associated with paralytic ileus.Table 3. Symptoms and signs in 73 infants with congenital hypothyroidism (at the time of recall).Table 3. Symptoms and signs in 73 infants with congenital hypothyroidism (at the time of recall).Tc 99m thyroid scan was performed on 66 infants. The gland was ectopic in 33 (50%), eutopic with increased uptake in 17 (26%) and athyrotic in 16 (24%). Table 4 summarizes the results of TSH and T4 in cord screening and at the time of recall. There was no significant difference in the mean TSH values among the different groups in the cord and recall samples. Also, there was no significant difference in the mean cord T4 values among the different groups. However, the mean T4 value at recall in the athyrotic group was significantly (P <0.001) lower than the cord results (14.8 versus 62.7) and that is of recall for the ectopic and dyshormonogenesis groups (14.8 versus 47.0 and 51.3 respectively). Antithyroglobulin and antimicrosomal antibodies were done in 59 of our patients and all were reported to be negative. The mean age for recall was 16.4 days (range 4 to 64), and 17.8 days (range 5 to 64) for the start of therapy. Fifty-eight patients were recalled within two weeks, while only five patients were recalled at later dates due to lack of communication with parents; the patients were 29, 37, 52, 59 and 64 days of age. Skeletal maturation was delayed in eight of 14 with athyrosis, six of 29 with ectopy and in three of 14 infants with dyshormonogenesis.Table 4. Thyroid function tests in cord screening and at the time of recall (mean ± SD).Table 4. Thyroid function tests in cord screening and at the time of recall (mean ± SD).DISCUSSIONThis is the first report on a large-scale regional screening program to detect infants with CH in Saudi Arabia. We found the incidence of confirmed infants with CH in our series, 1:3417, to be comparable to what has been reported by Abu-Osba et al.4 from the Eastern Province of Saudi Arabia and consistent with other reports from Europe and North America.1,10-14 However, if we consider infants with positive cord screening in whom confirmation was not possible, the incidence will be even higher at 1:2836. This supports our previous pilot study results6 and is similar to the Bacchus et al.2 and Majeed-Saidan et al.5 experience at Riyadh Al Kharj Military Hospital program.Our protocol showed an acceptable recall rate and proved to be cost effective.6,10-15 Furthermore, our experience has since shown that the successful implementation of any screening program depends not only on the efficient and comprehensive collection of specimens, transport and laboratory processing but also on access to patients to ensure prompt recall for further testing and therapy.1,4,6 Variable degrees of enthusiasm among medical teams, difficulties in locating suspicious cases with occasional lack of addresses and telephone numbers, and poor compliance from parents are among the difficulties. Adequate health awareness and education of parents are important for cooperation in recall, compliance and subsequent life-long therapy and follow-up.Of great interest is the finding of impaired thyroid functions with cord TSH values in the range of 110 to 450 mU/L, which returned to normal by the time of recall (Table 2). This was easily explained by maternal antithyroid medication intake during pregnancy in three of our patients16 and the presence of dyshormonogenesis in another patient.6 However, in the majority, no specific cause was found. This deserves further investigation. Similar findings have been reported by La Franchi et al.10 and Virtanen et al.12 from two different screening programs. It is tempting to postulate that the observed findings could be secondary to iodine deficiency.17 The findings of normal thyroid Tc 99m scans in four of our patients, with a normal urinary iodine excretion in two patients and their mothers, however, contradict such postulation.As in other studies, clinical signs of hypothyroidism were absent in the majority of our patients and were more obvious in patients with thyroid aplasia 10,11,13,14,18 Therefore, it is apparent that although many infants with aplasia of the thyroid will be detected within the first few weeks of life, on the basis of clinical history and examination, many cases will be missed, especially infants with ectopic glands, as they have some residual tissue that is capable of producing thyroxine in amounts that mask the clinical symptoms and delay the diagnosis. This is supported by the biochemical values of TSH and T4 in our series (Table 4). Of interest is the finding of intestinal obstruction in an infant with CH and hypotonia. This further indicates the importance of considering hypothyroidism in the differential diagnosis of hypotonia or intestinal obstruction.Thyroid scintigraphy was recommended to be part of the screening program if feasible, as it is useful in allowing treatment to be started with confidence and provides valuable information for genetic counseling.1,6,13,14,19 In accordance with other reports, thyroid ectopy was the most common.11,13,18-20 Furthermore, the finding of a high percentage (26%) of patients with normally located glands and high uptake, which suggests dyshormonogenesis, confirms the previous observation of the high incidence in this part of the world.5,6,18,21 This is due to the high frequency of consanguinity among our population.22The mean age of 17.8 days (range 5 to 64) for the start of therapy would appear to be longer than desirable for a newborn screening program. However, the majority of our patients (70%) were treated within two weeks, indicating that with improvement in communication with parents and awareness of the public, our goal of early screening of newborns can be achieved.ARTICLE REFERENCES:American Academy of Pediatrics. American Thyroid Association. Newborn screening for congenital hypothyroidism. Recommended Guidelines . Pediatrics. 1993; 91:1203–9. Google ScholarBacchus R, Williams S, Joyce B, et al.. Neonatal screening for congenital hypothyroidism in Riyadh . Saudi Med J. 1988; 91:588–95. Google ScholarFattah DI, Bacchus R. Neonatal screening for congenital hypothyroidism in Riyadh (letter) . Saudi Med J. 1989; 10: 426. Google ScholarAbu-Osba YK, Mallouh A, Salamah M, et al.. Comprehensive newborn screening program: ARAMCO experience, the national need and recommendations . Ann Saudi Med. 1992; 12:235–40. Google ScholarMajeed-Saidan MA, Joyce B, Khan M, Hamam H. Congenital hypothyroidism: the Riyadh Military Hospital experience . Clin Endocrinol. 1993; 38:191–5. Google ScholarAl-Nuaim A, El-Desouki M, Al-Jurayyan N, et al.. Neonatal screening for congenital hypothyroidism, incidence, imaging, feasibility and difficulties of a nationwide program in Saudi Arabia . Ann Saudi Med. 1992; 12:129–34. Google ScholarFarid NR. Screening for congenital hypothyroidism (editorial) . Ann Saudi Med. 1992; 12:127–8. Google ScholarAl-Mazrou YY, Al-Swailem A, Al-Nuaim A, et al.. Neonatal screening for congenital hypothyroidism in Saudi Arabia . The national program experience (Abstract) presented at the XXIInd Congress of the Union of Middle Eastern and Mediterranean Paediatric Societies (UMEMPS). 19-22 November 1994, Abu Dhabi, United Arab Emirates. Google ScholarThe Annual Health Report. Ministry of Health, Riyadh, Saudi Arabia, 1413H. Google ScholarLa Franchi SH, Murphey WH, Foley TP, et al.. Neonatal hypothyroidism detected by the Northwest regional screening program . Pediatrics. 1979; 63:180–91. Google ScholarPrice DA, Ehrlich RM, Walfish PG. Congenital hypothyroidism clinical and laboratory characteristics in infants detected by neonatal screening . Arch Dis Child. 1981; 56:845–51. Google ScholarVirtanen M, Perheentupa J, Maenpaa J, et al.. Finnish national screening for hypothyroidism: few false positives, early therapy . Eur J Pediatr. 1984; 143:2–5. Google ScholarFisher DA, Dussault JH, Foley TP, et al.. Screening for congenital hypothyroidism: results of screening one million North American infants . J Pediatr. 1979; 94:700–5. Google ScholarWalfish PG, Ginsberg J, Rosenberg RA, Howard NJ. Results of a regional cord blood screening program for detecting neonatal hypothyroidism . Arch Dis Child. 1979; 54:171–7. Google ScholarLa Berge C. Organization and cost benefits of mass screening programs . Burrow GN, Dussault JH, eds. Neonatal thyroid screening. New York: Raven Press, 1980; 189–97. Google ScholarCooper DS. Antithyroid drugs . N Engl J Med. 1984; 311:1353–62. Google ScholarSava L, Delange F, Belfione A. Transient impairment of thyroid function in newborns from an area of endemic goiter . J Clin Endocrinol Metab. 1984; 59:90–5. Google ScholarAl-Jurayyan NA, Al-Nuaim A, El-Desouki M. Congenital hypothyroidism: clinical and laboratory characteristics in infants detected by neonatal screening . Ann Saudi Med. 1992; 12:135–9. Google ScholarO'Connor MK, Freyne PJ, Gullen MJ. Low-dose radioisotope scanning and quantitative analysis in the diagnosis of congenital hypothyroidism . Arch Dis Child. 1982; 57:490–4. Google ScholarMiyai K, Connelly JF, Foley TP, et al.. An analysis of the variation of incidence of congenital dysgenetic hypothyroidism in various countries . Endocrinol J. 1984; 31:77–81. Google ScholarAl-Jurayyan NA, Abdullah MA, El-Desouki M, et al.. Childhood hypothyroidism in Saudi Arabia: a retrospective study . Saudi Med J. 1992; 13:125–8. Google ScholarSaedi-Wong S, Al-Frayh AR, Wong HYH. Socioeconomic epidemiology of consanguineous matings in the Saudi Arabian population . J Asian Afr Studies. 1989; 24:247–52. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 16, Issue 1January 1996 Metrics History Received3 May 1995Accepted2 July 1995Published online1 January 1996 ACKNOWLEDGMENTSWe would like to thank our colleagues (physicians, nurses, laboratory technicians and hospital directors) for their support and enthusiasm. We would like also to thank Miss Gloria D. Palacay for secretarial assistance.InformationCopyright © 1996, Annals of Saudi MedicinePDF download" @default.
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