Short Stature: Difference between revisions

Jump to navigation Jump to search
Line 115: Line 115:


===== Metabolic diseases =====
===== Metabolic diseases =====
[[Metabolic disorders]] can lead to [[growth failure]] in [[children]] and [[adolescents]].
* The most common metabolic disorder in children is type 1 diabetes mellitus. It causes short stature and attenuated growth because of the caloric deficit resulting from severe glucosuria. Also,  type 1 diabetes causes a decrease in IGF-1 production or action, which has a negative correlation with adult height. Diabetes with very poor glycemic control leads to Mauriac syndrome, characterized by attenuated linear growth, and delayed puberty, hepatomegaly, and Cushingoid features.
*Vitamin D deficiency can lead to rickets in children characterized by abnormal epiphyseal development, bowing of the extremities, and diminished growth.


====Genetic Causes====  
====Genetic Causes====  

Revision as of 16:26, 13 November 2020

Short stature
Classification and external resources
ICD-10 E34.3
ICD-9 783.43
DiseasesDB 18756
MedlinePlus 003271

WikiDoc Resources for Short Stature

Articles

Most recent articles on Short Stature

Most cited articles on Short Stature

Review articles on Short Stature

Articles on Short Stature in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Short Stature

Images of Short Stature

Photos of Short Stature

Podcasts & MP3s on Short Stature

Videos on Short Stature

Evidence Based Medicine

Cochrane Collaboration on Short Stature

Bandolier on Short Stature

TRIP on Short Stature

Clinical Trials

Ongoing Trials on Short Stature at Clinical Trials.gov

Trial results on Short Stature

Clinical Trials on Short Stature at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Short Stature

NICE Guidance on Short Stature

NHS PRODIGY Guidance

FDA on Short Stature

CDC on Short Stature

Books

Books on Short Stature

News

Short Stature in the news

Be alerted to news on Short Stature

News trends on Short Stature

Commentary

Blogs on Short Stature

Definitions

Definitions of Short Stature

Patient Resources / Community

Patient resources on Short Stature

Discussion groups on Short Stature

Patient Handouts on Short Stature

Directions to Hospitals Treating Short Stature

Risk calculators and risk factors for Short Stature

Healthcare Provider Resources

Symptoms of Short Stature

Causes & Risk Factors for Short Stature

Diagnostic studies for Short Stature

Treatment of Short Stature

Continuing Medical Education (CME)

CME Programs on Short Stature

International

Short Stature en Espanol

Short Stature en Francais

Business

Short Stature in the Marketplace

Patents on Short Stature

Experimental / Informatics

List of terms related to Short Stature

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.

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

Causes

Physiological causes of short stature

Familial short stature

Constitutional delay of growth and puberty

  • 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

Small for gestational age infants with catch-up growth

  • 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
Gastrointestinal disease
Rheumatologic disease
Chronic kidney disease
Cancer
Pulmonary disease
Cardiac disease
  • The major causes include, anorexia and increased basal energy requirements. [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

Metabolic disorders can lead to growth failure in children and adolescents.

  • The most common metabolic disorder in children is type 1 diabetes mellitus. It causes short stature and attenuated growth because of the caloric deficit resulting from severe glucosuria. Also, type 1 diabetes causes a decrease in IGF-1 production or action, which has a negative correlation with adult height. Diabetes with very poor glycemic control leads to Mauriac syndrome, characterized by attenuated linear growth, and delayed puberty, hepatomegaly, and Cushingoid features.
  • Vitamin D deficiency can lead to rickets in children characterized by abnormal epiphyseal development, bowing of the extremities, and diminished growth.

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

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

Risk Factors

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

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

Surgery

Prevention

References

  1. "StatPearls". 2020. PMID 32310491 Check |pmid= value (help).
  2. "StatPearls". 2020. PMID 31855368 PMID: 31855368 Check |pmid= value (help).
  3. 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).
  4. 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. 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. 6.0 6.1 6.2 "StatPearls". 2020. PMID 32644549 PMID: 32644549 Check |pmid= value (help).
  7. 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. 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. 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).
  10. 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. 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).
  12. 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).
  13. 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).
  14. 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. 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).
  16. 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. 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. 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).
  19. 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. 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).
  21. "StatPearls". 2020. PMID 29763203 PMID: 29763203 Check |pmid= value (help).
  22. 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).
  23. 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).
  24. 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).
  25. 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).
  26. 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).
  27. 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).
  28. 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).
  29. 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).

Template:WH Template:WikiDoc Sources