Short Stature: Difference between revisions
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=== Laboratory Findings === | === Laboratory Findings === | ||
* | The laboratory studies used to assess the major causes of short stature include, | ||
* Measurement of serum levels of insulin-like growth factor-I (IGF-I), formerly named somatomedin C, and IGF binding protein-3 (IGFBP-3). Measurement of serum levels of [[growth hormone]]. | |||
*Karyotype for the genetic causes of the short stature. | |||
* Other tests include, | |||
** CBC count for hematologic diseases. | |||
** Serum total thyroxine (total T4) and thyrotropin (TSH) levels to test for hypothyroidism | |||
** Antiendomysial immunoglobulin A (IgA) and immunoglobulin G (IgG), transglutaminase IgG, and antigliadin IgG titers for gluten enteropathy. Wintrobe sedimentation rate for inflammatory bowel disease. | |||
** Serum transferrin and prealbumin concentrations for undernutrition. | |||
** [[Sweat]] [[chloride]] [[test]] for [[cystic fibrosis]]. | |||
===Electrocardiogram=== | ===Electrocardiogram=== | ||
There are no ECG findings associated with [disease name]. | There are no ECG findings associated with [disease name]. |
Revision as of 05:11, 13 November 2020
Short stature | |
Classification and external resources | |
ICD-10 | E34.3 |
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ICD-9 | 783.43 |
DiseasesDB | 18756 |
MedlinePlus | 003271 |
WikiDoc Resources for Short Stature |
Articles |
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Most recent articles on Short Stature Most cited articles on Short Stature |
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Powerpoint slides on Short Stature |
Evidence Based Medicine |
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Guidelines / Policies / Govt |
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News |
Commentary |
Definitions |
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Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayesha Javid, MBBS[2]
Overview
Short stature is characterized as a condition in which the height of the person in the 3rd percentile is the average height of the age , sex, and population group. According to Ranke (1996), “Short stature is defined as a condition in which the height of an individual is two standard deviations (SD) below the corresponding mean height of a given age, sex and population group.” [1] [2]
Historical Perspective
- In 1967 by Pierre Maroteaux was the first man to ever mention dwarfism.
- He is largely credited for establishing the link between the genetic condition and prenatal micromelic for the patients with dwarfism.[3]
- In 1994, Dr. John Wasmoth and his team discovered the cause of achondroplasia while researching the topic of dwarfism.[4]
Classification
There are two types of short stature,
Proportionate short stature (PSS)
Proportionate short stature (PSS) is when the person is small, but limbs and trunk height are in proportions. [5]
Disproportionate short stature (DSS)
Whereas in disproportionate short stature (DSS), the normal proportion of limbs and trunk height is absent, and the individual shows a great difference in their sitting and standing height. [5]
Pathophysiology
- Short stature may be normal; therefore a detailed family history of growth patterns and direct measurement of the parents is an important part of evaluating if the short stature is due to the genetic causes and potentials of the child.https://emedicine.medscape.com/article/924411-overview#a5
- If the Short stature results from growth failure or premature closure of the epiphysial growth plates, it secondary to a pathologic condition or due to an inherited disorder. Therefore, pathophysiology depends on the underlying cause.https://emedicine.medscape.com/article/924411-overview#a5
Causes
Physiological causes of short stature
Familial short stature
- In familial short stature, individuals have low-normal height velocity throughout their life.[6]
- They have normal height velocity which distinguishes them from the pathologic causes of short stature.[6]
- Also, they can be distinguished from the individuals with constitutional growth delay, as their bone age is in accordance to their chronologic age. [6]
Constitutional delay of growth and puberty
- Constitutional delay of growth and puberty (CDGP) is also called constitutional short stature for pre-pubertal children, results in childhood short stature but leads to relatively normal height in adulthood.[7]
- Children are of normal size at birth. However, a severe and prolonged decrease in growth rate is observed starting at three to six months of age.[7]
- By three or four years of age, children with CDGP usually are growing at a low-normal rate. The growth curve that remains below the third percentile for height.[7]
- In addition children also have delayed pubertal maturation. This leads to a marked height discrepancy during the early teenage years compared with their peers but is followed by catch-up growth when they do enter puberty. The hallmark of CDGP is delayed skeletal age.[7]
Idiopathic short stature
- Idiopathic short stature (ISS) is a height below 2 standard deviation (SD) of the mean for age, in the absence of any endocrine, metabolic, or other causes.[8]
Small for gestational age infants with catch-up growth
- Most infants born small for gestational age (SGA) experience catch-up growth by two years of age. In this way, they are able to reach the normal range of their height.
- About 10 percent of SGA infants, particularly those born with more severe SGA, do not experience catch-up growth. This group of SGAinfants can be considered to have a pathologic pattern of growth. [9]
Pathologic causes of short stature
Systemic disorders with secondary effects on growth
Malnutrition
- Malnutrition can lead to short stature with a delayed pattern of growth. The hallmark is low weight-for-height.
- Malnutrition can be due to inadequate food supply, or it may be due to an underlying condition which affects food intake or absorption or increases energy requirement of the body. [10] [11]
Glucocorticoid therapy
- Glucocorticoids are used for the treatment of a variety of diseases in children, such as asthma, leading to growth failure in children. [11]
- Glucocorticoids can interfere with endogenous growth hormone secretion and action, bone formation, nitrogen retention, and collagen formation. [12]
- The growth effects of glucocorticoids are related to the type, dose, and duration of the exposure. If glucocorticoids are discontinued, children usually experience some catch-up growth. Growth impairment is more pronounced if it is given for a longer duration of action and when it is used daily as compared with an alternate-day regimen.[11]
Gastrointestinal disease
Rheumatologic disease
- Childhood rheumatologic diseases, especially systemic juvenile idiopathic arthritis, are frequently associated with growth retardation.[13]
- This can be partly due to the inflammatory process driven by the proinflammatory cytokines and also caused by the high-dose glucocorticoids often used for management.[14]
Chronic kidney disease
- Growth failure is seen in at least one-third of children with chronic kidney disease. [15]
- The primary causes of growth failure in children with chronic kidney disease are disturbances of growth hormone metabolism and its main mediator, insulin-like growth factor 1 (IGF-1). [15]
- Other factors may include metabolic acidosis, uremia, poor nutrition secondary to dietary restrictions, anorexia of chronic illness, anemia, calcium and phosphorus imbalance, renal osteodystrophy, or use of high-dose glucocorticoids. Affected patients are candidates for growth hormone therapy until renal transplantation, and some of these patients may also benefit from growth hormone therapy after transplantation. [15] [16]
Cancer
- Children with cancer have poor growth rate due to poor food intake, nausea, vomiting, and increased caloric utilization.[17] [18]
- Also, anorexia, nausea, and vomiting induced by chemotherapy and radiotherapy also can contribute to impaired growth.[17] [18]
Pulmonary disease
- In pulmonary diseases, such as cystic fibrosis, growth failure is caused by multiple mechanisms, including poor food intake, maldigestion or malabsorption, chronic and recurrent infection, and increased energy requirements.[19]
- In asthma, growth failure is usually due to the use of glucocorticoids for the treatment. [11]
Cardiac disease
- In severe congenital heart diseases, growth failure is common. Sometimes, it is the presenting feature of the heart disease.[20]
Immunologic disease
- Growth failure is associated with immunologic deficiencies such as common variable immunodeficiency or severe combined immunodeficiency syndrome, and infections such as HIV.[21]
Metabolic diseases
Genetic Causes
Several genetic disorders have prominent effects on growth.
- Turner's Syndrome
- SHOX gene variant
- Prader-Willi Syndrome
- Noonan syndrome
- Silver-Russell syndrome
- Skeletal dysplasias/growth plate abnormalities
Endocrine Causes
- Cushing syndrome
- Hypothyroidism
- Growth hormone deficiency
Other causes of short stature
Psychosocial short stature
It is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.
The symptoms include decreased growth hormone (GH) and somatomedin secretion, very short stature, weight that is inappropriate for the height, and immature skeletal age. This disease is a progressive one, and as long as the child is left in the stressing environment, their cognitive abilities continue to degenerate. Though rare in the population at large, it is common in feral children and in children kept in abusive, confined conditions for extended lengths of time. It can cause the body to completely stop growing but is generally considered to be temporary; regular growth will resume when the source of stress is removed
Differential Diagnosis
- Endocrine disorders: Growth hormone deficiency (GHD), insulin-like growth factor-1 (IGF-1), growth failure, constitutional growth delay, growth failure, stunted growth, structural brain abnormalities, or pituitary lesions, pituitary microadenomas, congenital hypothyroidism, idiopathic short stature, intrauterine growth deficiency, etc.[22]
- Genetic disorders: Down syndrome, Turner syndrome, 3M syndrome, Noonan syndrome, Prader-Willi syndrome, Aarskog syndrome, Silver-Russell syndrome, etc.
- Bone diseases: Dwarfism, Achondroplasia (short-limbed dwarfism), diastrophic dysplasia (short-limbed dwarfism), spondylo-epiphyseal dysplasia (short-trunk dwarfism), rickets, etc
- Chronic disorders: Cystic fibrosis, Crohn disease, juvenile idiopathic arthritis (JIA), anemia, chronic renal insufficiency, inflammatory bowel disorder, chronic malnutrition, etc
- Psychological distress [5]
Epidemiology and Demographics
In the United States, 2.5% of the population is short. [5] A study conducted on the school children age 4-16 years in the South Indian Population shows the overall prevalence of short stature was 2.86%.[23]
Gender
- Short stature is equally prevalent among both males and females, but studies show that boys were admitted more than the girls. This could be due to the reason that males are more likely to be brought to medical attention because of the prevalence of social expectations and pressures as compared to the females.
- On the other hand, in Rosario, Argentina, the higher prevalence was found in females (16.4%) than males (8.4%) (p<0.001).[21] The short stature in females was related to age, weight, and abdominal obesity.
Age
- Different ethnic groups have different average statures, which are essential to take into consideration while comparing mean parameters.
- Any individual who has not attained the union of epiphyseal plates, can get affected.
Race
- Short stature is more prevalent among Hispanic children as compared to the other populations.[24]
Risk Factors
- Common risk factors in the development of short stature are diet, environment, and genetics.[5]
Diagnosis
Diagnostic Criteria
- The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
- [criterion 1]
- [criterion 2]
- [criterion 3]
- [criterion 4]
Symptoms
- [Disease name] is usually asymptomatic.
- Symptoms of [disease name] may include the following:
- [symptom 1]
- [symptom 2]
- [symptom 3]
- [symptom 4]
- [symptom 5]
- [symptom 6]
Physical Examination
- Patients with [disease name] usually appear [general appearance].
- Physical examination may be remarkable for:
- [finding 1]
- [finding 2]
- [finding 3]
- [finding 4]
- [finding 5]
- [finding 6]
Laboratory Findings
The laboratory studies used to assess the major causes of short stature include,
- Measurement of serum levels of insulin-like growth factor-I (IGF-I), formerly named somatomedin C, and IGF binding protein-3 (IGFBP-3). Measurement of serum levels of growth hormone.
- Karyotype for the genetic causes of the short stature.
- Other tests include,
- CBC count for hematologic diseases.
- Serum total thyroxine (total T4) and thyrotropin (TSH) levels to test for hypothyroidism
- Antiendomysial immunoglobulin A (IgA) and immunoglobulin G (IgG), transglutaminase IgG, and antigliadin IgG titers for gluten enteropathy. Wintrobe sedimentation rate for inflammatory bowel disease.
- Serum transferrin and prealbumin concentrations for undernutrition.
- Sweat chloride test for cystic fibrosis.
Electrocardiogram
There are no ECG findings associated with [disease name].
OR
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
X-ray
There are no x-ray findings associated with [disease name].
OR
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Echocardiography or Ultrasound
There are no echocardiography/ultrasound findings associated with [disease name].
OR
Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
CT scan
There are no CT scan findings associated with [disease name].
OR
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
MRI
There are no MRI findings associated with [disease name].
OR
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Other Imaging Findings
There are no other imaging findings associated with [disease name].
OR
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
Other Diagnostic Studies
- [Disease name] may also be diagnosed using [diagnostic study name].
- Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].
Treatment
Medical Therapy
- The primary management of short stature should be to treat the underlying cause.[5]
- If the short stature is caused due to a hormonal deficiency it should be managed with hormonal treatment.[5]
- These include treating growth hormone deficiencies and constitutional growth delays with gonadotropin-releasing hormone analogues (GnRHa), aromatase inhibitors, recombinant human insulin-like growth factor- 1 (RhIGF-1), low-dose androgen therapy, recombinant human growth hormone (rhGH) etc. [25]
- In addition to treating the underlying cause, patients should be provided with psychosocial counselling and support in order to help them cope with psychosocial distress as a result of their short stature.[5]
Surgery
- Bone lengthening surgery is being performed not only for the treatment of dwarfism and/or skeletal deformities caused by congenital abnormalities, tumors and infections.[26] [27]
- The surgery is performed using Ilizarov method with circular external fixation. This is called cosmetic leg lengthening or symmetrical extended limb lengthening. [28] [29]
Prevention
- There are no primary preventive measures available for short stature.
References
- ↑ "StatPearls". 2020. PMID 32310491 Check
|pmid=
value (help). - ↑ "StatPearls". 2020. PMID 31855368 PMID: 31855368 Check
|pmid=
value (help). - ↑ Pauli RM (2019). "Achondroplasia: a comprehensive clinical review". Orphanet J Rare Dis. 14 (1): 1. doi:10.1186/s13023-018-0972-6. PMC 6318916. PMID 30606190 PMID: 30606190 Check
|pmid=
value (help). - ↑ Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M; et al. (1994). "Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia". Cell. 78 (2): 335–42. doi:10.1016/0092-8674(94)90302-6. PMID 7913883 PMID: 7913883 Check
|pmid=
value (help). - ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 "StatPearls". 2020. PMID 32310491 PMID: 32310491 Check
|pmid=
value (help). - ↑ 6.0 6.1 6.2 "StatPearls". 2020. PMID 32644549 PMID: 32644549 Check
|pmid=
value (help). - ↑ 7.0 7.1 7.2 7.3 Soliman AT, De Sanctis V (2012). "An approach to constitutional delay of growth and puberty". Indian J Endocrinol Metab. 16 (5): 698–705. doi:10.4103/2230-8210.100650. PMC 3475892. PMID 23087852 PMID: 23087852 Check
|pmid=
value (help). - ↑ 8.0 8.1 Vlaski J, Katanić D, Privrodski JJ, Kavecan I, Vorguicn I, Obrenović M (2013). "[Idiopathic short stature]". Srp Arh Celok Lek. 141 (3–4): 256–61. doi:10.2298/sarh1304256v. PMID 23745354 PMID: 23745354 Check
|pmid=
value (help). - ↑ 9.0 9.1 Fewtrell MS, Morley R, Abbott RA, Singhal A, Stephenson T, MacFadyen UM; et al. (2001). "Catch-up growth in small-for-gestational-age term infants: a randomized trial". Am J Clin Nutr. 74 (4): 516–23. doi:10.1093/ajcn/74.4.516. PMID 11566651 PMID: 11566651 Check
|pmid=
value (help). - ↑ Checkley W, Epstein LD, Gilman RH, Cabrera L, Black RE (2003). "Effects of acute diarrhea on linear growth in Peruvian children". Am J Epidemiol. 157 (2): 166–75. doi:10.1093/aje/kwf179. PMID 12522024 PMID: 12522024 Check
|pmid=
value (help). - ↑ 11.0 11.1 11.2 11.3 Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W (2013). "Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan". Pak J Med Sci. 29 (1): 53–7. doi:10.12669/pjms.291.2688. PMC 3809182. PMID 24353507 PMID: 24353507 Check
|pmid=
value (help). - ↑ Allen DB (1996). "Growth suppression by glucocorticoid therapy". Endocrinol Metab Clin North Am. 25 (3): 699–717. doi:10.1016/s0889-8529(05)70348-0. PMID 8879994 PMID 8879994 Check
|pmid=
value (help). - ↑ de Zegher F, Reynaert N, De Somer L, Wouters C, Roelants M (2018). "Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies". Horm Res Paediatr. 90 (5): 337–343. doi:10.1159/000489778. PMID 29940586 PMID 29940586 Check
|pmid=
value (help). - ↑ Bechtold S, Roth J (2009). "Natural history of growth and body composition in juvenile idiopathic arthritis". Horm Res. 72 Suppl 1: 13–9. doi:10.1159/000229758. PMID 19940490 PMID 19940490 Check
|pmid=
value (help). - ↑ 15.0 15.1 15.2 Oliveira JC, Siviero-Miachon AA, Spinola-Castro AM, Belangero VM, Guerra-Junior G (2008). "[Short stature in chronic kidney disease: physiopathology and treatment with growth hormone]". Arq Bras Endocrinol Metabol. 52 (5): 783–91. doi:10.1590/s0004-27302008000500010. PMID 18797585 PMID: 18797585 Check
|pmid=
value (help). - ↑ Mahan JD, Warady BA, Consensus Committee (2006). "Assessment and treatment of short stature in pediatric patients with chronic kidney disease: a consensus statement". Pediatr Nephrol. 21 (7): 917–30. doi:10.1007/s00467-006-0020-y. PMID 16773402 PMID: 16773402 Check
|pmid=
value (help). - ↑ 17.0 17.1 Nandagopal R, Laverdière C, Mulrooney D, Hudson MM, Meacham L (2008). "Endocrine late effects of childhood cancer therapy: a report from the Children's Oncology Group". Horm Res. 69 (2): 65–74. doi:10.1159/000111809. PMID 18059086 PMID 18059086 Check
|pmid=
value (help). - ↑ 18.0 18.1 Clayton PE, Shalet SM, Morris-Jones PH, Price DA (1988). "Growth in children treated for acute lymphoblastic leukaemia". Lancet. 1 (8583): 460–2. doi:10.1016/s0140-6736(88)91246-9. PMID 2893877 PMID 2893877 Check
|pmid=
value (help). - ↑ Karlberg J, Kjellmer I, Kristiansson B (1991). "Linear growth in children with cystic fibrosis. I. Birth to 8 years of age". Acta Paediatr Scand. 80 (5): 508–14. doi:10.1111/j.1651-2227.1991.tb11894.x. PMID 1872173 PMID 1872173 Check
|pmid=
value (help). - ↑ 20.0 20.1 Thommessen M, Heiberg A, Kase BF (1992). "Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome". Eur J Clin Nutr. 46 (7): 457–64. PMID 1623850 PMID 1623850 Check
|pmid=
value (help). - ↑ "StatPearls". 2020. PMID 29763203 PMID: 29763203 Check
|pmid=
value (help). - ↑ Derrick KM, Gomes WA, Gensure RC (2018). "Incidence and Outcomes of Pituitary Microadenomas in Children with Short Stature/Growth Hormone Deficiency". Horm Res Paediatr. 90 (3): 151–160. doi:10.1159/000489456. PMID 30261514 PMID: 30261514 Check
|pmid=
value (help). - ↑ Velayutham K, Selvan SSA, Jeyabalaji RV, Balaji S (2017). "Prevalence and Etiological Profile of Short Stature among School Children in a South Indian Population". Indian J Endocrinol Metab. 21 (6): 820–822. doi:10.4103/ijem.IJEM_149_17. PMC 5729667. PMID 29285442 PMID: 29285442 Check
|pmid=
value (help). - ↑ Grimberg A, Feemster KA, Pati S, Ramos M, Grundmeier R, Cucchiara AJ; et al. (2011). "Medically underserved girls receive less evaluation for short stature". Pediatrics. 127 (4): 696–702. doi:10.1542/peds.2010-1563. PMC 3065076. PMID 21422085 PMID: 21422085 Check
|pmid=
value (help). - ↑ Lanes R, González Briceño LG (2017). "Alternatives in the Treatment of Short Stature". Adv Pediatr. 64 (1): 111–131. doi:10.1016/j.yapd.2017.03.004. PMID 28688585 PMID: 28688585 Check
|pmid=
value (help). - ↑ Cattaneo R, Villa A, Catagni M, Tentori L (1988). "Limb lengthening in achondroplasia by Ilizarov's method". Int Orthop. 12 (3): 173–9. doi:10.1007/BF00547160. PMID 3182120 PMID: 3182120 Check
|pmid=
value (help). - ↑ Ottaviani G, Randelli P, Catagni MA (2005). "Segmental cement extraction system (SEG-CES) and the Ilizarov method in limb salvage procedure after total knee cemented prosthesis removal in a former osteosarcoma patient". Knee Surg Sports Traumatol Arthrosc. 13 (7): 557–63. doi:10.1007/s00167-004-0575-8. PMID 15660273 PMID: 15660273 Check
|pmid=
value (help). - ↑ Stathis SL, O'Callaghan MJ, Williams GM, Najman JM, Andersen MJ, Bor W (1999). "Behavioural and cognitive associations of short stature at 5 years". J Paediatr Child Health. 35 (6): 562–7. doi:10.1046/j.1440-1754.1999.00427.x. PMID 10634984 PMID: 10634984 Check
|pmid=
value (help). - ↑ Kranzler JH, Rosenbloom AL, Proctor B, Diamond FB, Watson M (2000). "Is short stature a handicap? A comparison of the psychosocial functioning of referred and nonreferred children with normal short stature and children with normal stature". J Pediatr. 136 (1): 96–102. doi:10.1016/s0022-3476(00)90057-x. PMID 10636982 PMID: 10636982 Check
|pmid=
value (help).