Growth hormone deficiency differential diagnosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Growth_hormone_deficiency]] | |||
{{CMG}}; {{AE}} {{MAD}} | {{CMG}}; {{AE}} {{MAD}} | ||
==Overview== | ==Overview== | ||
Growth hormone deficiency in children must be differentiated from other diseases that cause [[short stature]] such as: [[Achondroplasia]], [[Constitutional growth delay|constitutional growth delay,]] [[Short stature|familial short stature]], growth hormone resistance, [[Noonan syndrome|Noonan Syndrome]], [[Panhypopituitarism]], [[Hypothyroidism|pediatric hypothyroidism]], short stature accompanying systemic disease, psychosocial short stature, [[Silver-Russell Syndrome|Silver-Russell Syndrome,]] [[Turner syndrome|Turner Syndrome]], and [[idiopathic short stature]]. | |||
==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 | Growth hormone deficiency in children must be differentiated from other diseases that cause [[short stature]]. [[Short stature]] is defined as the height that is 2 [[Standard deviation|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 | * [[Constitutional growth delay]] | ||
* Familial short stature | * Familial short stature | ||
* Growth | * [[Laron syndrome|Growth hormone resistance]] | ||
* [[Noonan syndrome|Noonan | * [[Noonan syndrome|Noonan syndrome]] | ||
* [[Panhypopituitarism]] | * [[Panhypopituitarism]] | ||
* [[Hypothyroidism|Pediatric | * [[Hypothyroidism|Pediatric hypothyroidism]] | ||
* | * Short stature accompanying systemic disease | ||
* | * Psychosocial short stature | ||
* [[Silver-Russell Syndrome]] | * [[Silver-Russell Syndrome|Silver-Russell syndrome]] | ||
* [[Turner syndrome|Turner | * [[Turner syndrome|Turner syndrome]] | ||
* [[Idiopathic short stature]] | |||
{| | {| | ||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
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!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]] | ||
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| 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;" | | | style="background: #F5F5F5; padding: 5px;" |Delayed | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
* ''POU1F1'' | * ''POU1F1'' [[Gene mutation|gene mutations]] | ||
* | * GH1 [[Gene mutation|gene mutations]] | ||
| 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;" |Delayed | | style="background: #F5F5F5; padding: 5px;" |Delayed | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
FGFR3 gene mutations | [[FGFR3 gene|FGFR3]] gene mutations | ||
| 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;" | | | 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 and puberty | * Family history of [[Delayed growth;|delayed growth]] spurt and [[puberty]] | ||
* Childhood short stature but relatively normal adult height | * Childhood short stature but relatively normal adult height | ||
* Normal size at birth | * Normal size at birth | ||
* A delayed growth rate begins at three to six months of age | * A delayed growth rate begins at three to six months of age | ||
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|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;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
* [[Growth hormone receptor]] mutations | * [[Growth hormone receptor]] mutations | ||
* [[Insulin-like growth factor-I|IGF-I]] gene mutations | * [[Insulin-like growth factor-I|IGF-I]] [[Gene mutation|gene mutations]] | ||
| style="background: #F5F5F5; padding: 5px;" |Normal | | style="background: #F5F5F5; padding: 5px;" |Normal | ||
|- | |- | ||
|[[Hypothyroidism|Pediatric | |[[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]] | ||
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|Normal | |Normal | ||
| | | | ||
* Puffy | * Puffy face | ||
* [[Macroglossia]] | * [[Macroglossia]] | ||
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* Paired box 8 [[PAX8 gene|(''PAX8)'']] | * Paired box 8 [[PAX8 gene|(''PAX8)'']] | ||
* Thyroid Transcription factor-2 (''TTF2'' | * Thyroid Transcription factor-2 (''TTF2)'' | ||
* Transcription factors NK2 | * Transcription factors NK2 | ||
|Normal | |Normal | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Turner syndrome|Turner | | 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 | ||
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| 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 181: | Line 184: | ||
|Normal | |Normal | ||
|- | |- | ||
|[[Noonan syndrome|Noonan | |[[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 197: | 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 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 | |||
| | | | ||
* [[Failure to thrive]] | * [[Failure to thrive]] | ||
* [[Poor dental hygiene|Poor dental | * [[Poor dental hygiene|Poor dental hygiene]] | ||
* Sad Affect | * Sad Affect | ||
|Normal | |Normal | ||
| | |Normal | ||
| | |Maybe 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. | * [[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 | * 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 | ||
|Decreased | |Decreased | ||
|Normal | |Normal | ||
|Failure to thrive | |[[Failure to thrive]] | ||
|Delayed | |Delayed | ||
|Normal | |Normal | ||
|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 deviation|standard deviations]] (SD) of the mean for age, in the absence of any endocrine, metabolic, or other diagnosis | ||
|Normal | |Normal | ||
|Decreased | |Decreased |
Latest revision as of 18:24, 25 February 2019
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 such as: Achondroplasia, constitutional growth delay, familial short stature, growth hormone resistance, Noonan Syndrome, Panhypopituitarism, pediatric hypothyroidism, short stature accompanying systemic disease, psychosocial short stature, 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 the 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:
- Achondroplasia
- Constitutional growth delay
- Familial short stature
- Growth hormone resistance
- Noonan syndrome
- Panhypopituitarism
- Pediatric hypothyroidism
- Short stature accompanying systemic disease
- Psychosocial short stature
- Silver-Russell syndrome
- Turner syndrome
- Idiopathic short stature
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 |
|
Delayed |
|
Low |
Achondroplasia[3] |
|
Normal | Decreased | Decreased |
|
Delayed |
FGFR3 gene mutations |
Normal |
Familial short stature[4] |
|
Normal | Decreased | Decreased | Normal | Normal | Heterozygous IGF1 Splicing mutation | Normal |
Constitutional growth delay[5] |
|
Delayed
. |
Normal | Normal | Normal | Normal | Mutations in Variation in FGFR1, GNRHR, TAC3, and TACR3 genes | Normal |
Growth Hormone Resistance[6] |
|
Delayed | Decreased | Normal |
|
Delayed |
|
Normal |
Pediatric hypothyroidism[7] |
|
Delayed | Decreased | Normal |
|
Delayed |
Mutations in:
|
Normal |
Turner syndrome[8] |
|
Absent | Decreased | Decreased |
|
Normal | 45 X0 | Normal |
Silver-Russell Syndrome[9] |
|
Delayed | Decreased | Decreased |
|
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] |
|
Delayed | Decreased | Normal |
|
Normal | Normal | Maybe 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
- ↑ 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.
- ↑ 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.
- ↑ Bouali H, Latrech H (2015). "Achondroplasia: Current Options and Future Perspective". Pediatr Endocrinol Rev. 12 (4): 388–95. PMID 26182483.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Wakeling EL (2011). "Silver-Russell syndrome". Arch Dis Child. 96 (12): 1156–61. doi:10.1136/adc.2010.190165. PMID 21349887.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.