Chromosomal anomalies in patients with short stature

Moreno-Garcı́a, Marta; Fernández-Martínez, Francisco Javier; Miranda, Emilia Barreiro

doi:10.1111/j.1442-200x.2005.02120.x

Cited by 17 publications

(11 citation statements)

References 11 publications

(13 reference statements)

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“…Deletions of the long arm of the Y chromosome, or X/XY mosaicisms in phenotypic females or males, are associated with short stature (207,208,209,210). However, in short males the diagnostic yield of karyotyping is low (3%) (200). Besides numerical aberrations of sex chromosomes, several other chromosome abnormalities associated with short stature are detectable with routine karyotyping, e.g., Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and trisomy 17 mosaicism (211).…”

Section: Chromosomal Abnormalitiesmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

149

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: Chromosomal Abnormalitiesmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit

Oostdijk

Losekoot

et al. 2016

European Journal of Endocrinology

149

132

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“…From the literature it is known that the diagnosis of Turner syndrome should be considered in any girl with unexplained short stature [143,144], whether or not FSH is elevated. Therefore, we believe that a chromosomal analysis should be carried out in each short girl in whom the initial laboratory screening has not shown an abnormality.…”

Section: The Diagnostic Processmentioning

confidence: 99%

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation

Wit

Clayton

Rogol

et al. 2008

Growth Hormone & IGF Research

208

179

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“…When the age rules recommended by pediatric endocrinologists (to measure plasma FSH only in girls <2 years and >9 years) were applied, the figures hardly changed. From the literature, as well as from clinical experience, it is known that the diagnosis of Turner syndrome should be considered in any girl with unexplained short stature [60,61]. Therefore, we believe that irrespective of the FSH result, a chromosomal analysis should be carried out in each girl in whom the initial laboratory screening has not shown an abnormality.…”

Section: Diagnostic Proceduresmentioning

confidence: 99%

Diagnostic Approach in Children with Short Stature

et al. 2009

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For early detection of pathological causes of growth failure proper referral criteria are needed, as well as a thorough clinical, radiological and laboratory assessment. In this minireview we first discuss the two consensus-based and one evidence-based guidelines for referral that have been published. The evidence-based guidelines result in a sensitivity of approximately 80% at a false-positive rate of 2%. Then, relevant clues from the medical history and physical examination are reviewed, and specific investigations based on clinical suspicion listed. In the absence of abnormal clinical findings, an X-ray of the hand/wrist and a laboratory screen are usually performed. Scientific evidence for the various components of laboratory screening is scarce, but accumulated experience and theoretical considerations have led to a list of investigations that may be considered until more evidence is available.

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Chromosomal anomalies in patients with short stature

Abstract: Karyotype analysis is recommended for all girls with unexplained SS and associated abnormalities. In females with isolated SS a cost-benefit analysis must be done in each case.

Cited by 17 publications

References 11 publications

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation

Diagnostic Approach in Children with Short Stature

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