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Introduction Thyroid hormone (TH) is essential for normal development and metabolic activity of most tissues. This is illustrated by the severe consequences of congenital hypothyroidism, leading to growth failure and mental retardation when
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, sexual abuse, foreign body, or genital tract infection. Paradoxical to the other causes of sexual precocity, the patient also suffered from growth retardation for the same duration, which was associated with lethargy, dry skin, and constipation. On
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have growth retardation and delayed bone age that respond to treatment with T3 [ 46 ], further demonstrating the requirement for thyroid hormones during growth and skeletal development. The recent studies in individuals with THRA mutations are
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milano, Italy
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Endocrine Section, Beacon Hospital, Dublin, Ireland.
School of Medicine, University College Dublin, Ireland
Endocrinology Department, St Vincent’s University Hospital, Dublin, Ireland
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allele. Reduced expression or function of selenoproteins in patient-derived cells is also informative ( Recommendation: S, Quality of evidence: ØØOO). Management We recommend monitoring for growth retardation and delayed development in
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hormone secretion and growth of thyrocytes. Constitutive activation of the cAMP pathway results in alterations of both function and proliferation of the thyroid cells. Further germline TSHR mutations associated with FNAH also show increased basal cAMP
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not been reported in any of the deiodinase genes. However, there is a report of two families in which 3 affected individuals exhibited transient growth retardation as a result of defective deiodinase expression due to a broad deficiency in
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age. For example, congenital hypothyroidism, if left untreated, may lead to severe and irreversible mental retardation. In addition, hypothyroidism can result in impairment of growth and maturation of the skeletal system, while hyperthyroidism leads to
Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
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Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
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Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands
Amsterdam Reproduction & Development Research Institute, Amsterdam, The Netherlands
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands
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central CH, low serum TH concentrations are accompanied by an inappropriately normal, low or slightly elevated TSH concentration. TH is indispensable for normal metabolism throughout life, for physical growth during childhood, and for brain development
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widespread causes of human suffering and of physical and mental degeneracy with which society has had and still has to deal with' [ 5 , 6 ]. Besides hypothyroidism and goiter, iodine deficiency has been linked to mental retardation and neurodevelopmental
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;71:276–287. 10.1210/jcem-71-2-276 2116437 21 Redmond GP: Propranolol and fetal growth retardation. Semin Perinatol 1982;6:142–147. 22 Azizi F, Bahrainian M, Khamseh ME, Khoshniatl M: Intellectual development and thyroid function in children who