Congenital Hypothyroidism and Neurological Development

Hulse, Anthony

doi:10.1111/j.1469-7610.1983.tb00139.x

Cited by 13 publications

(11 citation statements)

References 21 publications

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“…Descriptions of patients with CH before the widespread implementation of neonatal screening in the 1980s, as well as reports of children with endemic cretinism due to iodine deficiency, describe clinical phenotypes with severe cognitive and neurological impairment including spasticity, particularly in the lower extremities, shuffling gait, discoordination, jerky movements, tremor, hypotonia, and extrapyramidal disorders (33). In addition, deaf-mutism, hearing loss, dysarthria, and extreme short stature are reported (33, 34). It is therefore likely that the cognitive impairment, hypotonia, neurological deficits, and deaf-mutism seen in this case are consequences of delayed diagnosis and poor compliance with LT 4 treatment.…”

Section: Discussionmentioning

confidence: 99%

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

et al. 2019

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Background: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin, and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, more than 25 mutations have been identified in POU1F1 . Case Description: We describe a 17-year-old male who presented to our Pediatric Endocrinology clinic with extreme short stature (height 81.7 cm, −9.3 SD), cognitive impairment, deaf-mutism, and neurological disabilities. L-thyroxine supplemental therapy, which had been initiated at the age of 6 months but ceased due to non-compliance, was reintroduced at presentation. GH therapy was initiated at 19 years of age, resulting in 42 cm linear growth, to a final height of 124 cm. Sequencing of POU1F1 revealed a previously described homozygous insertion mutation—c.580_581insT, p (Thr194Ilefs * 7)—in exon 4 causing a frameshift that introduces a stop codon 7 amino acids downstream, leading to a severely truncated protein lacking the homeodomain. Conclusion: This case report sheds light on the natural history of untreated patients with POU1F1 mutations and raises awareness for early diagnosis and adequate treatment of central congenital hypothyroidism and GH deficiency.

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Section: Discussionmentioning

confidence: 99%

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

et al. 2019

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“…[67][68][69] As a rule, treatment past 3 months of age was associated with frank and severe mental retardation, whereas treatment before this age was associated with a lesser degree of retardation. In addition to retardation, these children often showed significant neurobehavioral impairments, neuropsychological deficits, and neurologic abnormalities, 70-72 as well as ophthalmologic difficulties.…”

Section: Congenital Hypothyroidismmentioning

confidence: 99%

Hypothyroidism

Rovet¹,

Foley²,

Nakhla³

2008

Clinical Management of Thyroid Disease

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“…Treatment with melanocyte-stimulatinghormone inhibiting factor (MIF-1) and tyrosine-MIF-1 can modify the effects of opioids and accelerate various indices of brain and behavioral development (Galina & Kastin, 1986). Similar effects can be obtained with thyroxine, and it is well known that thyroid deficits lead to developmental disorders (Hulse, 1983). Early exposure to the stress hormone CRF can apparently have broad developmental effects, so that treated rat infants exhibit accelerated eye opening and decreased body weight.…”

Section: Effects Of Early Peptide Administrationmentioning

confidence: 99%

What Develops in Emotional Development?

Mascolo¹,

Griffin²

1998

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ForewordThe problem of development is central in the study of emotional life for two basic reasons. First, emotional life so clearly changes (dramatically in the early years) with new emotional reactions emerging against the backdrop of an increasing sensitivity to context and with self-regulation of emotion emerging from a striking dependence on regulatory assistance from caregivers. Such changes demand developmental analysis. At the same time, understanding such profound changes will surely inform our understanding of the nature of development more generally. The complexity of emotional change, when grasped, will reveal the elusive nature of development itself.At the outset, we know that development is complex. We must take seriously what is present at any given phase, including the newborn period, because a developmental analysis disallows something emerging from nothing. Still, it is equally nondevelopmental to posit that new forms of new processes were simply present in their precursors. Rather, development is characterized by transformations in which more complex structures and organization "emerge" from new integration of prior components and new capacities. These new forms and organizations cannot be specified from prior conditions but are due to transactions of the evolving organism with its environment over time. They are not simply in the genome, and they are not simply conditioned by the environment. They are the result of the developmental process. Thus, positing a simple differentiation mechanism, in which mature forms simply "come out of" earlier forms, without specifying the nature of the interactive process is not adequate; nor is a position in which mature forms are assumed to have always been present.Development, then, implies increasing complexity and organization, often accompanied by a more precise coordination of components and a more precise coordination between organism and environment. There are distinctive patterns of infant-environment transaction, even in the newborn. These set the stage for later processes involving subjective engagement, evaluation, and (ultimately) represented subjectivity. It is differentiation in this sense, not ix X Foreword in the sense of more differentiated components only, that defines a developmental analysis. Yet understanding and specifying this type of developmental change is extraordinarily challenging.The authors in this volume grapple with this complexity from many points of view, with varying emphases that sometimes seem difficult to integrate; yet integration remains the goal of all. Emotional development includes the emergence of specific affects, the growth of emotional regulation, and the increasing integration of emotion with social and cognitive development. It also includes changes in experience and changes in the narratives children and others construct of these experiences. It is all of this and more. Each of these aspects of emotional development is taken up by one contributor or another, in the knowledge that greater understanding of these...

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Congenital Hypothyroidism and Neurological Development

Cited by 13 publications

References 21 publications

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Hypothyroidism

What Develops in Emotional Development?

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