Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects

Monroy-Santoyo, Susana; Ibarra-González, Isabel; Fernández-Lainez, Cynthia; Greenawalt-Rodríguez, Sydney; Chacón-Rey, Jorge; Calzada‐León, Raúl; Vela-Amieva, Marcela

doi:10.1016/j.earlhumdev.2011.07.009

Cited by 20 publications

(15 citation statements)

References 19 publications

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“…This series of 18 individuals with OAFNS is the largest reported so far, and represents the first report of mandibular cleft, unilateral micro/anophtalmia, polymicrogyria, olfactory bulb hypoplasia, and thyroid agenesis in OAFNS. However, none of these findings is surprising if we consider OAFNS as the association of OAVS and FND: mandibular cleft and unilateral anophtalmia has indeed been previously described in OAVS (Aleksic et al, ; Vendramini‐Pittoli et al, ), thyroid agenesis and polymicrogyria in FND (Giffoni, Cendes, Valente, & Gil‐da‐Silva‐Lopes, ; Monroy‐Santoyo et al, ); olfactory bulb agenesis is a midline defect. Furthermore, if the occasional occurrence of nasal polyps had previously been noted in about 20% of the patients with OAFNS (Borumandi et al, ; Casey et al, ; Gawrych et al, ; Musarella & Young, ; Roman Corona‐Rivera et al, ), this series highlights this finding as a classical OAFNS feature, as it is present in 10 patients (56%) of this series.…”

Section: Discussionmentioning

confidence: 83%

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Lehalle

Altunoğlu

Bruel

et al. 2018

American J of Med Genetics Pt A

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The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features (micro/anophtalmia, cataract, thyroid agenesis, polymicrogyria, olfactory bulb hypoplasia, and mandibular cleft), and emphasize the high frequency of nasal polyps in OAFNS (56%). We report the negative results of ALX1, ALX3, and ALX4 genes sequencing and nextgeneration sequencing strategy performed on blood-derived DNA from respectively, four and four individuals. Exome sequencing was performed in four individuals, genome sequencing in one patient with negative exome sequencing result. Based on the data from this series and the literature, diverse hypotheses can be raised regarding the etiology of OAFNS: mosaic mutation, epigenetic anomaly, oligogenism, or nongenetic cause. In conclusion, this series represents further clinical delineation work of the rare OAFNS, and paves the way toward the identification of the causing mechanism.

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Section: Discussionmentioning

confidence: 83%

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Lehalle

Altunoğlu

Bruel

et al. 2018

American J of Med Genetics Pt A

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“…From animal models it is well known that hypothyroidism impairs colic motility and function (50). But we found only two recent articles (both are case reports) about the association between HSCR and congenital hypothyroidism (51,52) and only one research article about an association between congenital hypothyroidism and different birth defects (including HSCR) (53). The possible association between HSCR and congenital hypothyroidism can be in disturbed migration of neural crest cells in both developing organs, into the thyroid gland and intestine.…”

Section: Hirschsprung Disease and Thyroid Functionmentioning

confidence: 85%

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Slavikova¹,

Zabojnikova²,

J³

et al. 2015

BLL

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The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological defi cit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary defi ciency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). Text in PDF www.elis.sk.

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“…The causes of permanent CH are mostly related to inappropriate growth or ectopic thyroid gland ( 16 ), while there are different causes for transient CH. In addition to genetic and environmental factors ( 34 ), the other main causes include maternal TSH receptor-blocking antibodies, exposure to local iodine, maternal use of anti-thyroid medications ( 35 ), iodine deficiency, increased iodine, consumption of goitrogens, infants with very low weight (<1500 g), premature infants (less than 37 weeks); in some cases the causes are unknown ( 13 , 14 , 36 ). Iodine deficiency has not been detected in Iran since 1977 ( 2 ).…”

Section: Discussionmentioning

confidence: 99%

A 7-year study on the prevalence of congenital hypothyroidism in northern Iran

et al. 2018

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BackgroundCongenital hypothyroidism (CH) is one of the most common congenital endocrine disorders.The present study determined the prevalence and demographic characteristics of congenital hypothyroidism in the north of Iran.ObjectiveTo determine the prevalence of congenital hypothyroidism based on transient and permanent types with demographic characteristics in Mazandaran province in northern Iran.MethodsThis retrospective descriptive survey analyzed the medical records of children with primary diagnosis of CH in health centers in all cities of Mazandaran Province between June 2009 and March 2016. To compare the study groups (CH type) in terms of quantitative and qualitative variables, the t-test and Chi-square test were used, respectively using the SPSS22. P-value <0.05 was considered as significant.ResultsOf 269,088 infants screened during the study period, 548 infants with primary congenital hypothyroidism were identified (a prevalence of 1 per 491 births) and congenital hypothyroidism was definitively diagnosed in 389 children (a prevalence of 1 per 453 births); of them, 169 had permanent CH (a prevalence of 1 per 1043 births) and 220 had transient CH (a prevalence of 1 per 801 births). The female to male ratio in the permanent congenital hypothyroidism group was higher than that in the transient congenital hypothyroidism group (p=0.08). The family relationship between mother and father was stronger in the permanent congenital hypothyroidism group than in the transient congenital hypothyroidism group (p=0.03).ConclusionThese findings show that congenital hypothyroidism is more prevalent in the north of Iran than in other areas of Iran; the prevalence of transient CH is particularly higher than permanent CH.

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Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects

Cited by 20 publications

References 19 publications

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

A 7-year study on the prevalence of congenital hypothyroidism in northern Iran

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