Catch-up growth after prolonged hypothyroidism

Boersma, Bart; Otten, B. J.; Stoelinga, G. B. A.; Wit, Jan M.

doi:10.1007/bf01955262

Cited by 64 publications

(21 citation statements)

References 14 publications

(11 reference statements)

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“…If undiagnosed, congenital hypothyroidism leads to very severe growth failure (92), but in most middle-and highincome countries early detection by neonatal screening will prevent this, as well as the severe consequences for mental development. Presently known genetic causes of thyroid dysgenesis and dyshormonogenesis have recently been reviewed (17,93).…”

Section: Genetic Defects Affecting Signalling Of Other Hormones Regulmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

148

132

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The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T 3 /T 4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. Heterozygous NPR2 or SHOX defects may be found in w3% of short children, and also rasopathies (e.g., Noonan syndrome) can be found in children without clear syndromic appearance. Numerous other syndromes associated with short stature are caused by genetic defects in fundamental cellular processes, chromosomal abnormalities, CNVs, and imprinting disorders.

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Section: Genetic Defects Affecting Signalling Of Other Hormones Regulmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

148

132

View full text Add to dashboard Cite

show abstract

“…Growth and pubertal development may be deranged. Similar to other endocrine causes of growth failure, linear growth is compromised to a greater degree than weight gain, and the bone age is delayed [41, 42]. Hypothyroidism typically causes pubertal delay but may also induce pseudoprecocious puberty, manifested as testicular enlargement in boys, breast development, and/or vaginal bleeding in girls [43–45].…”

Section: Autoimmune Thyroiditis (At)mentioning

confidence: 99%

Autoimmune Thyroid Diseases in Children

Cappa

Bizzarri

Crea

2011

Journal of Thyroid Research

111

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The two major autoimmune thyroid diseases (ATDs) include Graves' disease (GD) and autoimmune thyroiditis (AT); both of which are characterized by infiltration of the thyroid by T and B cells reactive to thyroid antigens, by the production of thyroid autoantibodies and by abnormal thyroid function (hyperthyroidism in GD and hypothyroidism in AT). While the exact etiology of thyroid autoimmunity is not known, it is believed to develop when a combination of genetic susceptibility and environmental encounters leads to breakdown of tolerance. It is important to recognize thyroid dysfunction at an early stage by maintaining an appropriate index of suspicion.

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“…Interestingly, longstanding untreated CH has been associated with permanent height loss. Boersma et al have described two children with CH, who were left untreated for several years; although they experienced a marked catch-up growth, both of them reached an adult height below their target height [15]. …”

Section: Discussionmentioning

confidence: 99%

Effect of Prolonged Discontinuation of L-Thyroxine Replacement in a Child with Congenital Hypothyroidism

Kubicky

Weiner

Carlson

et al. 2012

Case Reports in Endocrinology

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When diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes the importance of a consistent adherence to treatment in preventing such complications, especially in infancy and early childhood.

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Catch-up growth after prolonged hypothyroidism

Cited by 64 publications

References 14 publications

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Autoimmune Thyroid Diseases in Children

Effect of Prolonged Discontinuation of L-Thyroxine Replacement in a Child with Congenital Hypothyroidism

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