Congenital Hypothyroidism: Increased Risk of Neonatal Morbidity Results in Delayed Treatment

Fernhoff, PaulM.; Brown, A.; Elsas, LouisJ.

doi:10.1016/s0140-6736(87)92098-8

Cited by 44 publications

(26 citation statements)

References 8 publications

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“…The most frequent anomalies noted in our series were cardiac (8.8%) and unclassified multiple congenital anomalies (6.2%). The incidence of cardiac defects was similar to the figure of 5.8% reported by Siebner et al [ 16], but high er than in other studies [7,11,[13][14][15], Bam forth et al [9] and Majeed-Saidan et al [4] have reported an unusually high incidence of 28 and 14%, respectively. The types of con genital cardiac defects observed in our study are similar to those described by others.…”

Section: Discussionsupporting

confidence: 89%

“…This is in support of Majeed-Saidan et al [4] who reported an incidence of 23.8% in a small series from another centre in Riyadh, and comparable to what has been reported by Fernhoff et al [11], Bamforth et al [9], and Siebner et al [ 16] from three other centres in different geographic locations (ta ble 2). but higher than in other studies [5-8.…”

Section: Discussionsupporting

confidence: 88%

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Congenital Anomalies in Infants with Congenital Hypothyroidism: Is It a Coincidental or an Associated Finding?

et al. 1997

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During the period between December 1988 and February 1995, a total of 279,482 newborn infants were screened in the regional neonatal screening program for congenital hypothyroidism (CH) in Riyadh province, Saudi Arabia. Eighty-one infants were confirmed to have CH giving an incidence of 1 in 3,450. Variable congenital anomalies, other than those of the thyroid gland, were present in 16 (19.8%). The anomalies most frequently encountered were congenital heart defects (7), unclassified multiple congenital anomalies (5) and Down’s syndrome (2). The results of our study confirm this association, and emphasize the need to search for such anomalies in infants born with CH. Nationwide studies, however, on birth defects in the general population and those associated with CH are still needed to help us understanding the role of local genetic and environmental factors.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionsupporting

confidence: 88%

Congenital Anomalies in Infants with Congenital Hypothyroidism: Is It a Coincidental or an Associated Finding?

et al. 1997

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“…Reports on associated birth defects in patients with permanent CH vary in their frequencies ranging from a slight increase of 2.4% (7) in comparison with the normal population up to significantly increased frequencies of 20 -25% (8,9). More recent studies have shown that the increased risk of associated malformations, especially of congenital heart defects in patients with permanent CH, is limited to patients with thyroid dysgenesis (3).…”

Section: Epidemiology Of Congenital Hypothyroidism (Ch)mentioning

confidence: 99%

Molecular genetic defects in congenital hypothyroidism

Grüters

Krude

Biebermann

2004

European Journal of Endocrinology

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Recently molecular genetic defects in some cases of congenital hypothyroidism (CH) as well as of rare cases of central hypothyroidism have been identified. These studies have led to the description of so far unexplained forms of these disorders. In some patients with CH early diagnosis by newborn screening and early treatment was not able to lead to a normal mental development. This could subsequently be explained by molecular defects of transcription factors (FOXE-1/FKHL15, NKX2.1) which are important not only for the embryonic development of the thyroid gland but also for other organs including the central nervous system (CNS). These findings will help in understanding the critical role of thyroid hormones in the pre-and postnatal CNS development. However, many questions regarding the molecular defects and their consequences in the majority of patients with CH still remain open and will be addressed in this article.European Journal of Endocrinology 151 U39-U44

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“…There are several reports of an increased frequency of birth defects associated with primary CH [Fernhoff et al, 1987;New England Congenital Hypothyroidism Collaborative, 1988;Grant et al, 1988;Lazarus et al, 1988;Rosenthal et al, 1988;Siebner et al, 1992;Majeed-Saidan et al, 1993;Cassio et al, 1994], particularly cardiac defects. However, a wide variation exists in these frequencies, ranging from no increased frequency [Chanoine et al, 1986] to 24% [MajeedSaidan et al, 1993], or eight times the frequency found in the general population.…”

Section: The Incidence Of Congenital Hypothyroidism (Ch) Inmentioning

confidence: 99%

Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992

Roberts¹,

Moore²,

Fernhoff³

et al. 1997

Am. J. Med. Genet.

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Very little data are available from population-based studies on congenital hypothyroidism (CH) epidemiology and patterns of associated birth defects. By linking data from two population-based registries, we describe the epidemiology of CH and associated defects in Atlanta from 1979-1992. Cases included all infants with CH born from 1979-1992 to mothers residing in the metropolitan Atlanta area at the time of birth. We ascertained CH cases by reviewing newborn screening records and records of the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based registry of all serious birth defects diagnosed during a child's first year of life. We linked CH cases with MACDP records to ascertain the presence of serious birth defects among infants with CH. Of 97 infants identified with CH through newborn screening and/or MACDP (1:5,000 live births), 87 had primary CH and 10 had secondary. The rate of primary CH was higher among non-hispanic whites than among blacks (1:4,400 vs. 1:10,000) and among females compared with males (1:4,000 vs. 1:7,700). Among infants with primary CH, 77 had isolated CH, 3 had Down syndrome, and 7 had unrelated major structural defects. Based on Atlanta population rates of Down syndrome and major structural anomalies, we infer i) infants with Down syndrome have a 35-fold increased risk for primary CH compared with infants in the general population (P < .0001); ii) infants with primary CH have a 2.2-fold increased risk for major structural anomalies (P < .05). Because this is the first population study of CH in the United States in which data from two population-based registries were linked, the epidemiologic patterns and associated defects are more representative than those found in studies based on newborn screening records only.

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Congenital Hypothyroidism: Increased Risk of Neonatal Morbidity Results in Delayed Treatment

Cited by 44 publications

References 8 publications

Congenital Anomalies in Infants with Congenital Hypothyroidism: Is It a Coincidental or an Associated Finding?

Congenital Anomalies in Infants with Congenital Hypothyroidism: Is It a Coincidental or an Associated Finding?

Molecular genetic defects in congenital hypothyroidism

Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992

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