Growth hormone deficiency differential diagnosis: Difference between revisions

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==Differentiating Growth Hormone Deficiency from other Diseases==
==Differentiating Growth Hormone Deficiency from other Diseases==
Growth hormone deficiency in children must be differentiated from other diseases that cause short stature in children such as:
Growth hormone deficiency in children must be differentiated from other diseases that cause [[short stature]]. [[Short stature]] is defined as height that is 2 standard deviations (SD) or more below the mean height for children of that sex and chronological age in a given population.<ref name="pmid25465677">{{cite journal| author=Yadav S, Dabas A| title=Approach to short stature. | journal=Indian J Pediatr | year= 2015 | volume= 82 | issue= 5 | pages= 462-70 | pmid=25465677 | doi=10.1007/s12098-014-1609-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25465677  }}</ref> Theses causes include:  
* [[Achondroplasia]]
* [[Achondroplasia]]
* Constitutional Growth Delay
* Constitutional Growth Delay
Line 35: Line 35:
!GH level
!GH level
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Growth hormone deficiency
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Growth hormone deficiency<ref name="pmid10372687">{{cite journal| author=Colao A, Di Somma C, Pivonello R, Loche S, Aimaretti G, Cerbone G et al.| title=Bone loss is correlated to the severity of growth hormone deficiency in adult patients with hypopituitarism. | journal=J Clin Endocrinol Metab | year= 1999 | volume= 84 | issue= 6 | pages= 1919-24 | pmid=10372687 | doi=10.1210/jcem.84.6.5742 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10372687  }}</ref>
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
* Children: delayed [[developmental milestones]] and [[muscle weakness]]
* Children: delayed [[developmental milestones]] and [[muscle weakness]]
Line 44: Line 44:
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
* Doll-like fat distribution pattern
* Doll-like fat distribution pattern
* Immature face with under developed nasal bridge
* Immature face with under developed [[nasal bridge]]
* Infantile voice
* Infantile voice
| style="background: #F5F5F5; padding: 5px;" |Dlayed
| style="background: #F5F5F5; padding: 5px;" |Dlayed
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| style="background: #F5F5F5; padding: 5px;" |Low
| style="background: #F5F5F5; padding: 5px;" |Low
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Achondroplasia]]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Achondroplasia]]<ref name="pmid26182483">{{cite journal| author=Bouali H, Latrech H| title=Achondroplasia: Current Options and Future Perspective. | journal=Pediatr Endocrinol Rev | year= 2015 | volume= 12 | issue= 4 | pages= 388-95 | pmid=26182483 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26182483  }}</ref>
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
* Normal [[Intelligence test|Intelligence quotient]]
* Normal [[Intelligence test|Intelligence quotient]]
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| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Familial short stature
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Familial short stature<ref name="pmid24033502">{{cite journal| author=Kawashima Y, Hakuno F, Okada S, Hotsubo T, Kinoshita T, Fujimoto M et al.| title=Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation. | journal=Clin Endocrinol (Oxf) | year= 2014 | volume= 81 | issue= 2 | pages= 312-4 | pmid=24033502 | doi=10.1111/cen.12317 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24033502  }}</ref>
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
* A normal variant with normal signs, investigations.
* A normal variant with normal signs, investigations.
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| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Heterozygous ''IGF1'' Splicing mutation
| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
|-
|-
|Constitutional growth delay
|Constitutional growth delay<ref name="pmid21292259">{{cite journal| author=Vaaralahti K, Wehkalampi K, Tommiska J, Laitinen EM, Dunkel L, Raivio T| title=The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty. | journal=Fertil Steril | year= 2011 | volume= 95 | issue= 8 | pages= 2756-8 | pmid=21292259 | doi=10.1016/j.fertnstert.2010.12.059 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21292259  }}</ref>
|
|
* Family history of [[Delayed growth;|delayed growth]] and [[puberty]]
* Family history of [[Delayed growth;|delayed growth]] and [[puberty]]
Line 98: Line 98:
|Normal
|Normal
|Normal
|Normal
|Normal
|Mutations in Variation in ''[[FGFR1]]'', ''[[GNRHR]], [[TAC 3|TAC3]],'' and ''TACR3 genes''
|Normal
|Normal
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Growth Hormone Resistance
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Growth Hormone Resistance<ref name="pmid26062520">{{cite journal| author=Kurtoğlu S, Hatipoglu N| title=Growth hormone insensitivity: diagnostic and therapeutic approaches. | journal=J Endocrinol Invest | year= 2016 | volume= 39 | issue= 1 | pages= 19-28 | pmid=26062520 | doi=10.1007/s40618-015-0327-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26062520  }}</ref>
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
* [[Growth hormone insensitivity syndrome|Growth hormone insensitivity]] is an absence of the biological effects of growth hormone despite a normal production of [[Growth hormone|GH]].
* [[Growth hormone insensitivity syndrome|Growth hormone insensitivity]] is an absence of the biological effects of growth hormone despite a normal production of [[Growth hormone|GH]].
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| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
|-
|-
|[[Hypothyroidism|Pediatric Hypothyroidism]]
|[[Hypothyroidism|Pediatric Hypothyroidism]]<ref name="pmid24662106">{{cite journal| author=Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G et al.| title=European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. | journal=Horm Res Paediatr | year= 2014 | volume= 81 | issue= 2 | pages= 80-103 | pmid=24662106 | doi=10.1159/000358198 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24662106  }}</ref>
|
|
* Low [[muscle tone]]
* Low [[muscle tone]]
Line 142: Line 142:
|Normal  
|Normal  
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Turner syndrome|Turner Syndrome]]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Turner syndrome|Turner Syndrome]]<ref name="pmid25765448">{{cite journal| author=Trovó de Marqui AB| title=[Turner syndrome and genetic polymorphism: a systematic review]. | journal=Rev Paul Pediatr | year= 2015 | volume= 33 | issue= 3 | pages= 364-71 | pmid=25765448 | doi=10.1016/j.rpped.2014.11.014 | pmc=4620965 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25765448  }}</ref>
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
* Females only
* Females only
Line 163: Line 163:
| style="background: #F5F5F5; padding: 5px;" |Normal
| style="background: #F5F5F5; padding: 5px;" |Normal
|-
|-
|[[Silver-Russell Syndrome]]
|[[Silver-Russell Syndrome]]<ref name="pmid21349887">{{cite journal| author=Wakeling EL| title=Silver-Russell syndrome. | journal=Arch Dis Child | year= 2011 | volume= 96 | issue= 12 | pages= 1156-61 | pmid=21349887 | doi=10.1136/adc.2010.190165 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21349887  }}</ref>
|
|
* [[Hemihypertrophy]]
* [[Hemihypertrophy]]
Line 184: Line 184:
|Normal
|Normal
|-
|-
|[[Noonan syndrome|Noonan Syndrome]]
|[[Noonan syndrome|Noonan Syndrome]]<ref name="pmid17603482">{{cite journal| author=Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R et al.| title=Germline gain-of-function mutations in RAF1 cause Noonan syndrome. | journal=Nat Genet | year= 2007 | volume= 39 | issue= 8 | pages= 1013-7 | pmid=17603482 | doi=10.1038/ng2078 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17603482  }}</ref>
|
|
* [[Bleeding tendency]]
* [[Bleeding tendency]]
Line 200: Line 200:
|Normal
|Normal
|-
|-
|Psychosocial Short Stature
|Psychosocial Short Stature<ref name="pmid26210627">{{cite journal| author=Sandberg DE, Gardner M| title=Short Stature: Is It a Psychosocial Problem and Does Changing Height Matter? | journal=Pediatr Clin North Am | year= 2015 | volume= 62 | issue= 4 | pages= 963-82 | pmid=26210627 | doi=10.1016/j.pcl.2015.04.009 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26210627  }}</ref>
|
|
* A disorder of short stature or growth that is observed in association with emotional deprivation
* A disorder of short stature or growth that is observed in association with emotional deprivation
Line 217: Line 217:
|May be low
|May be low
|-
|-
|Short stature accompanying systemic disease
|Short stature accompanying systemic disease<ref name="pmid24957008">{{cite journal| author=Sanderson IR| title=Growth problems in children with IBD. | journal=Nat Rev Gastroenterol Hepatol | year= 2014 | volume= 11 | issue= 10 | pages= 601-10 | pmid=24957008 | doi=10.1038/nrgastro.2014.102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24957008  }}</ref>
|
|
* [[Growth failure]] is seen in children with systemic diseases such as [[chronic kidney disease]], [[malignancy]], and [[Cushing's Disease|cushing disease]].
* [[Growth failure]] is seen in children with systemic diseases such as [[chronic kidney disease]], [[malignancy]],[[Crohn's disease|Chron's disease,]] and [[Cushing's Disease|cushing disease]].
* The primary causes of growth failure in children include [[metabolic acidosis]], poor nutrition secondary to dietary restrictions,  disturbances of growth hormone metabolism and its main mediator, [[insulin-like growth factor-I]] ([[Insulin-like growth factor-I|IGF-I)]].  
* The primary causes of growth failure in children include [[metabolic acidosis]], poor nutrition secondary to dietary restrictions,  disturbances of growth hormone metabolism and its main mediator, [[insulin-like growth factor-I]] ([[Insulin-like growth factor-I|IGF-I)]].  
|Delayed
|Delayed
Line 229: Line 229:
|Normal
|Normal
|-
|-
|[[Idiopathic short stature]]  
|[[Idiopathic short stature]]<ref name="pmid18182313">{{cite journal| author=Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P| title=Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. | journal=Growth Horm IGF Res | year= 2008 | volume= 18 | issue= 2 | pages= 89-110 | pmid=18182313 | doi=10.1016/j.ghir.2007.11.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18182313  }}</ref>
|A height below 2 standard deviations (SD) of the mean for age, in the absence of any endocrine, metabolic, or other diagnosis
|A height below 2 standard deviations (SD) of the mean for age, in the absence of any endocrine, metabolic, or other diagnosis
|Normal
|Normal

Revision as of 20:43, 17 August 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohammed Abdelwahed M.D[2]

Overview

Growth hormone deficiency in children must be differentiated from other diseases that cause short stature in children such as: Achondroplasia, constitutional growth delay, familial short stature, growth hormone resistance, Noonan Syndrome, Panhypopituitarism, pediatric hypothyroidism, Short stature accompanying systemic disease, short stature from abuse and neglect, Silver-Russell Syndrome, Turner Syndrome, and idiopathic short stature.

Differentiating Growth Hormone Deficiency from other Diseases

Growth hormone deficiency in children must be differentiated from other diseases that cause short stature. Short stature is defined as height that is 2 standard deviations (SD) or more below the mean height for children of that sex and chronological age in a given population.[1] Theses causes include:

Diseases History and symptoms Physical Examination Laboratory findings
Puberty development Height velocity Parents height Characteristic facies Bone age Genetic analysis GH level
Growth hormone deficiency[2] Delayed Decreased Normal
  • Doll-like fat distribution pattern
  • Immature face with under developed nasal bridge
  • Infantile voice
 Dlayed
  • POU1F1 gene mutations 
  • GH1 gene mutations
 Low
Achondroplasia[3] Normal Decreased Decreased
  • Large heads
  • Prominent forehead
  • Midface hypoplasia
 Delayed

FGFR3 gene mutations

Normal
Familial short stature[4]
  • A normal variant with normal signs, investigations.
  • Positive family history
 Normal Decreased Decreased Normal Normal Heterozygous IGF1 Splicing mutation Normal
Constitutional growth delay[5]
  • Family history of delayed growth and puberty
  • Childhood short stature but relatively normal adult height
  • Normal size at birth
  • A delayed growth rate begins at three to six months of age
  • A family history of delayed growth and puberty in one or both parents
 Delayed

.

Normal Normal Normal Normal Mutations in Variation in FGFR1, GNRHR, TAC3, and TACR3 genes Normal
Growth Hormone Resistance[6] Delayed Decreased Normal
  • Small face in relation to head circumference
  • Delayed dentition
 Delayed Normal
Pediatric Hypothyroidism[7] Delayed Decreased Normal
  • Puffy facies
 Delayed

Mutations in:

  • Thyroid Transcription factor-2 (TTF2
  • Transcription factors NK2
 Normal
Turner Syndrome[8] Absent Decreased Decreased Normal 45 X0 Normal
Silver-Russell Syndrome[9] Delayed Decreased Decreased
  • Prominent forehead
  • Triangular face
  • Downturned corners of the mouth
  • Small jaw
  • Pointed chin
 Normal Methylation involving the H19 and IGF2 genes  Normal
Noonan Syndrome[10] Delayed Decreased Decreased Minor facial dysmorphism Normal PTPN11 and SOS1 genes abnormality Normal
Psychosocial Short Stature[11]
  • A disorder of short stature or growth that is observed in association with emotional deprivation
  • A disturbed relationship between child and caregiver is usually noted.
  • A history of abuse or neglect and emotional deprivation
  • The relationship between the caregiver and the child appears to be abnormal.
 Delayed Decreased Normal Normal Normal May be low
Short stature accompanying systemic disease[12] Delayed Decreased Normal Failure to thrive Delayed Normal Normal
Idiopathic short stature[13] A height below 2 standard deviations (SD) of the mean for age, in the absence of any endocrine, metabolic, or other diagnosis Normal Decreased Normal Normal Delayed SHOX gene mutations[14] Normal

References

  1. ↑ Yadav S, Dabas A (2015). "Approach to short stature". Indian J Pediatr. 82 (5): 462–70. doi:10.1007/s12098-014-1609-y. PMID 25465677.
  2. ↑ Colao A, Di Somma C, Pivonello R, Loche S, Aimaretti G, Cerbone G; et al. (1999). "Bone loss is correlated to the severity of growth hormone deficiency in adult patients with hypopituitarism". J Clin Endocrinol Metab. 84 (6): 1919–24. doi:10.1210/jcem.84.6.5742. PMID 10372687.
  3. ↑ Bouali H, Latrech H (2015). "Achondroplasia: Current Options and Future Perspective". Pediatr Endocrinol Rev. 12 (4): 388–95. PMID 26182483.
  4. ↑ Kawashima Y, Hakuno F, Okada S, Hotsubo T, Kinoshita T, Fujimoto M; et al. (2014). "Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation". Clin Endocrinol (Oxf). 81 (2): 312–4. doi:10.1111/cen.12317. PMID 24033502.
  5. ↑ Vaaralahti K, Wehkalampi K, Tommiska J, Laitinen EM, Dunkel L, Raivio T (2011). "The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty". Fertil Steril. 95 (8): 2756–8. doi:10.1016/j.fertnstert.2010.12.059. PMID 21292259.
  6. ↑ Kurtoğlu S, Hatipoglu N (2016). "Growth hormone insensitivity: diagnostic and therapeutic approaches". J Endocrinol Invest. 39 (1): 19–28. doi:10.1007/s40618-015-0327-2. PMID 26062520.
  7. ↑ Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G; et al. (2014). "European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism". Horm Res Paediatr. 81 (2): 80–103. doi:10.1159/000358198. PMID 24662106.
  8. ↑ Trovó de Marqui AB (2015). "[Turner syndrome and genetic polymorphism: a systematic review]". Rev Paul Pediatr. 33 (3): 364–71. doi:10.1016/j.rpped.2014.11.014. PMC 4620965. PMID 25765448.
  9. ↑ Wakeling EL (2011). "Silver-Russell syndrome". Arch Dis Child. 96 (12): 1156–61. doi:10.1136/adc.2010.190165. PMID 21349887.
  10. ↑ Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R; et al. (2007). "Germline gain-of-function mutations in RAF1 cause Noonan syndrome". Nat Genet. 39 (8): 1013–7. doi:10.1038/ng2078. PMID 17603482.
  11. ↑ Sandberg DE, Gardner M (2015). "Short Stature: Is It a Psychosocial Problem and Does Changing Height Matter?". Pediatr Clin North Am. 62 (4): 963–82. doi:10.1016/j.pcl.2015.04.009. PMID 26210627.
  12. ↑ Sanderson IR (2014). "Growth problems in children with IBD". Nat Rev Gastroenterol Hepatol. 11 (10): 601–10. doi:10.1038/nrgastro.2014.102. PMID 24957008.
  13. ↑ Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P (2008). "Idiopathic short stature: definition, epidemiology, and diagnostic evaluation". Growth Horm IGF Res. 18 (2): 89–110. doi:10.1016/j.ghir.2007.11.004. PMID 18182313.
  14. ↑ Ouni M, Castell AL, Rothenbuhler A, Linglart A, Bougnères P (2015). "Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature". Clin Endocrinol (Oxf). doi:10.1111/cen.12867. PMID 26218795.

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