Growth (including short stature and tall stature)

2020 ◽  
pp. 1-48
Author(s):  
Gary Butler ◽  
Jeremy Kirk
Keyword(s):  
Short Stature ◽  
Sex Steroids ◽  
Genetic Disorders ◽  
Bone Age ◽  
Birth Size ◽  
Tall Stature ◽  
Prader Willi Syndrome ◽  
Chronic Disorder ◽  
Growth Problem ◽  
Underlying Disorder

• Growth occurs in three separate phases, all of which are under different nutritional and/or hormonal controls: ◦ infantile (mainly nutritional) ◦ childhood (hormonal, mainly growth hormone (GH)) ◦ pubertal (hormonal; GH and sex steroids acting synergistically). • Height: ◦ should be measured supine up until 2 years of age, and standing after that, and plotted on appropriate charts ◦ is a normally distributed variable, with extremes (0.4th/2nd centiles and 99.6th/98th centiles) arbitrarily defined as short and tall stature respectively. • Two major sets of genes determine height and rate of development; the first is assessed using mid-parental and target height, and the second using bone age. • Short stature: ◦ Failure to achieve an acceptable height can be due to a primary growth problem, or secondary to an underlying disorder. ◦ Causes include familial, genetic disorders (syndromic), small birth size, chronic illness, psychological, environmental, and endocrine. ◦ Generally, short stature due to a hormonal issue is associated with (relative) overweight, and that due to an underlying chronic disorder with (relative) underweight. ◦ GH therapy is licensed for short stature in children in the following situations: GH deficiency, Turner syndrome, chronic renal insufficiency, children born small for gestational age, Prader–Willi syndrome, and SHOX deficiency. • Tall stature: ◦ Although in theory this should present as frequently as short stature, in practice this is not the case. ◦ The commonest cause of tall stature is constitutional, although other forms include: ■ syndromic: e.g. Klinefelter, Marfan, and Sotos syndromes ■ hormonal: GH, sex steroid excess. ◦ Therapy (sex steroids, GH blockade, epiphyseal stapling) is less effective than in short stature.

Current Concepts in Tall Stature and Overgrowth Syndromes

2001 ◽  
Vol 14 (s2) ◽  
Author(s):  
S.L.S. Drop ◽  
N. Greggio ◽  
M. Cappa ◽  
S. Bernasconi
Keyword(s):  
Sex Steroids ◽  
Bone Age ◽  
Prediction Equation ◽  
Favourable Effect ◽  
Tall Stature ◽  
Growth Data ◽  
Therapeutic Modalities ◽  
Height Prediction ◽  
High Doses ◽  
Overgrowth Syndromes

AbstractIn this overview an update is given on the pathogenesis, classification and differential diagnosis of overgrowth syndromes. In addition, height prognosis and therapeutic modalities available for managing mainly constitutional tall stature are discussed. Constitutional tall stature comprises normal variants in which one or both parents are tall. Primary disorders may have a prenatal onset and may be of chromosomal or genetic origin. Secondary overgrowth syndromes are most often the result of hormonal disturbances. Height prediction plays a key role in the management of tall children. Prediction equation models have been developed based on the growth data of healthy tall children. There is general agreement that a favourable effect on reducing ultimate height is obtained using high doses of sex steroids (girls 100-300 μg ethinyl- oestradiol; boys testosterone (T) ester depot preparations 250-1000 mg/month), the height reduction being greater when the treatment is started at a lower chronological and/or bone age. An alternative is the induction of puberty with low doses of sex steroids (girls 5-50 μg ethinyloestradiol; boys T esters 25-50 mg/m

scholarly journals An aetiological evaluation of short stature

2017 ◽  
Vol 5 (9) ◽  
pp. 3887
Author(s):  
Deepa S. Phirke ◽  
Sachin O. Phirke ◽  
Swati Khot
Keyword(s):  
Short Stature ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Bone Age ◽  
Normal Variant ◽  
Endocrine Disorders ◽  
Care Hospital ◽  
Normal Variants ◽  
Pathological Type ◽  
Underlying Disorder

Background: Short stature can be a normal variant or secondary to an underlying disorder. It is necessary to evaluate short stature to differentiate a normal from pathological short stature and thus decide the further treatment needed. This study was conducted at a tertiary care hospital to find out the various etiologies of short statureMethods: An observational study was conducted on 49 children in age of 2-12 years with short stature. They were grouped as normal variants and pathological short stature depending on upper-lower segment ratio the study group was later divided into proportionate and disproportionate short stature. They were further investigated to find out the etiology of the short stature. The bone age of all groups was compared with the chronological age to calculate the bone age retardation.Results: Out of 49 children 26.5% were normal variants and 73.4% as pathological type. 77.7% of pathological short stature were proportionate type. The male:female ratio was 1:1.4. Chronic systemic disorders were detected in 24.48% while malnutrition and endocrine disorders constituted 12% each. The bone age retardation in endocrine disorders was 0.47.Conclusions: Chronic systemic disorders were commonest cause of pathological short stature in this study. Females were predominantly affected in all groups and bone age retardation was maximum in endocrine disorders, thus indicating that early diagnosis and management of these disorders is necessary to decrease the growth retardation in these children. An understanding of short stature not only permits to differentiate a normal variant from an underlying disorder but also helps in modifying the course by means of early intervention.

scholarly journals Epiphysiodesis for the treatment of tall stature and leg length discrepancy

2021 ◽  
Author(s):  
Madeleine Willegger ◽  
Markus Schreiner ◽  
Alexander Kolb ◽  
Reinhard Windhager ◽  
Catharina Chiari
Keyword(s):  
Surgical Planning ◽  
Multidisciplinary Approach ◽  
Treatment Options ◽  
Bone Age ◽  
Leg Length Discrepancy ◽  
Tall Stature ◽  
Complication Rates ◽  
Leg Length ◽  
Growth Prediction ◽  
Length Discrepancy

SummaryPainful orthopedic conditions associated with extreme tall stature and leg length discrepancy (LLD) include back pain and adopting bad posture. After failure of conservative treatment options, blocking of the growth plates (epiphysiodesis) around the knee emerged as gold standard in patients with tall stature and LLD in the growing skeleton. Surgical planning includes growth prediction and evaluation of bone age. Since growth prediction is associated with a certain potential error, adequate planning and timing of epiphysiodesis are the key for success of the treatment. LLD corrections up to 5 cm can be achieved, and predicted extreme tall stature can be limited. Percutaneous epiphysiodesis techniques are minimally invasive, safe and efficient methods with low complication rates. In general, a multidisciplinary approach should be pursued when treating children and adolescents with tall stature.

scholarly journals Can exaggerated response to a GH provocative test identify patients with partial GH insensitivity syndrome?

2002 ◽  
pp. 319-323 ◽  
Author(s):  
Y Rakover ◽  
A Silbergeld ◽  
I Lavi ◽  
R Masalha ◽  
IB Shlomo
Keyword(s):  
Short Stature ◽  
Binding Protein ◽  
Standard Deviation Score ◽  
Bone Age ◽  
The Other ◽  
Provocative Test ◽  
Igf I ◽  
Parental Height ◽  
The Difference ◽  
Igfbp 3

OBJECTIVES: In the majority of children with short stature, the etiology is unknown. Mutations of the GH receptor (GHR) have been reported in a few children with apparent idiopathic short stature (ISS). These patients had low IGF-I, IGF-binding protein-3 (IGFBP-3) and GH-binding protein (GHBP), but a normal or exaggerated GH response to provocative stimuli, suggestive of partial GH insensitivity (GHI). We attempted to identify children with partial GHI syndrome, based on their response to GH provocative stimuli and other parameters of the GH-IGF-I axis. SUBJECTS AND METHODS: One hundred and sixty-four pre-pubertal children (97 boys, 67 girls) aged 7.2 (0.5-16.75) years were studied. All had short stature with height <3rd centile. The weight, bone age (BA) and body mass index (BMI) of the subjects, as well as the parents' heights and mid parental height (MPH) were assessed. Basal blood samples were taken for IGF-I, IGFBP-3 and GHBP. All subjects underwent a GH provocative test with either clonidine, arginine or insulin. The subjects were divided into three groups: (A) patients with peak GH concentration <18 mIU/l in two different provocative tests (GH deficiency - GHD, n=33); (B) patients with peak GH between 18.2 and 39.8 mIU/l (normal response, n=78); (C) patients with peak GH >40 mIU/l (exaggerated GH response, n=53). RESULTS: No significant differences were found in age, height (standard deviation score (SDS)), parental height (SDS) and the difference between chronological age and bone age (DeltaBA) between the groups. Patients with GHD were heavier (P=0.039) and had significantly higher BMI (SDS) (P=0.001) than the other groups. MPH (SDS) was lower in the group of exaggerated responders (P=0.04) compared with the other groups. No significant differences were found between the groups for the biochemical parameters when expressed nominally or in SDS, except for IGFBP-3 (SDS), which was lower in the GHD group (P=0.005). The GHBP levels were not lower in the group of exaggerated GH response to provocative stimuli. Height (SDS) correlated negatively with basal GH values in pooled data of all the subjects (r=-0.358, P<0.0001), in normal responders (r=-0.45, P<0.0001) and in the exaggerated responders (r=-0.341, P<0.0001), but not in the GHD group. CONCLUSION: Exaggerated GH response to provocative tests alone does not appear to be useful in identifying children with GHI.

scholarly journals Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nami Mohammadian Khonsari ◽  
Sahar Mohammad Poor Nami ◽  
Benyamin Hakak-Zargar ◽  
Tessa Voth
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Hormone Receptors ◽  
Bone Growth ◽  
Synergistic Effects ◽  
Signs And Symptoms ◽  
Bone Age ◽  
Pathogenic Mutation ◽  
Paracrine Factors ◽  
Severe Short Stature

Abstract Background Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead to Laron syndrome (LS), one of the several disorders that are collectively called growth hormone insensitivity syndrome (GHI). Another example is Floating-Harbor syndrome (FHS), a rare autosomal dominant due to mutations in the SRCAP gene that can also result in short stature. Case presentation We report the case of a 6-year-old female with concomitant mutations in the three genes mentioned above. The mutations reported here were found on genetic studies and are usually benign, causing a variant of undetermined significance. However, our patient’s phenotype could only be explained by the compounded effects of pathogenic mutations of these genes. Some of the same mutations were also found in the patient’s father and her paternal grandfather. Both also presented with short stature, though not to the same degree as our patient. While these mutations are often reported to be insignificant, they gave rise to severe short stature and a specific phenotype in the patient when presented together. We think that even though the GHI spectrum is inherited through an autosomal recessive pattern, the sum of these heterozygous mutations resulted in severe short stature despite the limited GHI seen in our patient, the father, and the grandfather, through a rare ACAN and SRCAP mutation that, to our knowledge, has not been previously reported as a pathogenic mutation in the literature. Conclusion We investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case.

scholarly journals Turner Syndrome, Uncommonly Diagnosed Cause of Short Stature: Case Report and Review of Literature

2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Turner Syndrome ◽  
Age Estimation ◽  
Bone Age ◽  
Review Of Literature ◽  
X Ray ◽  
Dysmorphic Features ◽  
The Past ◽  
Hormone Analysis

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76

Infantile Spasms Due to Unilateral Cerebral Infarcts

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1024-1026
Author(s):  
LUIS A. ALVAREZ ◽  
SHLOMO SHINNAR ◽  
SOLOMON L. MOSHÉ
Keyword(s):  
Mental Retardation ◽  
Genetic Disorders ◽  
Infantile Spasms ◽  
Seizure Disorder ◽  
Neurologic Examination ◽  
Cerebral Infarcts ◽  
Symptomatic Group ◽  
High Incidence ◽  
Underlying Disorder ◽  
Group 1

Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9

scholarly journals Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Jose Bernardo Quintos ◽  
Michael H. Guo ◽  
Andrew Dauber
Keyword(s):  
Short Stature ◽  
Adult Height ◽  
Frameshift Mutation ◽  
Index Case ◽  
Bone Age ◽  
Heterozygous Mutation ◽  
Maternal Grandfather ◽  
Whole Exome ◽  
Heterozygous Variant ◽  
History Of

AbstractRecently, whole exome sequencing identified heterozygous defects in the aggrecan (We report a novel frameshift mutation inWe present a 5 1/2-year-old male with a family history of short stature in three generations. The maternal grandfather stands 144.5 cm (Ht SDS –4.7), mother 147.7 cm (Ht SDS –2.6), and index case 99.2 cm (Ht SDS –2.7). Our prepubertal patient has significant bone age advancement (bone age 8 years at chronologic age 5 1/2 years) resulting in a poor predicted adult height of 142 cm (Ht SDS –5.1). DNA sequencing identified a novel heterozygous variant inMutations in the

scholarly journals Síndrome de Klinefelter con deficiencia parcial de hormona de crecimiento.

2015 ◽  
Vol 10 (1) ◽  
pp. 38
Author(s):  
Carlos TORI TORI ◽  
Carlos ROE B.
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Klinefelter Syndrome ◽  
Bone Age ◽  
Hormone Deficiency ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
The Third ◽  
Rare Association

We present a case of Klinefelter’s syndrome and short stature due to partial growth hormone deficiency. His height was below the third percentile for age and his bone age lagged behind four years. Cases like this are generally due to the presence of a an isochromosome Xq or to an isolated partial or total deficiency of growth hormone, or to partial or panhypopituitarism. We wish de emphasize the rare association between Klinefelter syndrome and growth hormone deficiency.

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