Growth hormone deficiency differential diagnosis: Difference between revisions
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! rowspan="2" |Diseases | ! rowspan="2" |Diseases | ||
! colspan=" | ! colspan="3" |Laboratory Findings and imagings | ||
! colspan="4" |Physical Examination | ! colspan="4" |Physical Examination | ||
! colspan="4" |History and Symptoms | ! colspan="4" |History and Symptoms | ||
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!GH level | !GH level | ||
!Genetic analysis | !Genetic analysis | ||
!Puberty development | !Puberty development | ||
!Height velocity | !Height velocity | ||
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| style="background: #F5F5F5; padding: 5px;" |Low | | style="background: #F5F5F5; padding: 5px;" |Low | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
* ''POU1F1'' gene mutations | |||
* GH1 gene mutations | |||
| style="background: #F5F5F5; padding: 5px;" |Delayed | | style="background: #F5F5F5; padding: 5px;" |Delayed | ||
| style="background: #F5F5F5; padding: 5px;" |Decreased | |||
| style="background: #F5F5F5; padding: 5px;" |Normal | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
* Doll-like fat distribution pattern | |||
* Immature face with under developed nasal bridge | |||
* Infantile voice | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
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| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
FGFR3 gene mutations | FGFR3 gene mutations | ||
| style="background: #F5F5F5; padding: 5px;" |Normal | | style="background: #F5F5F5; padding: 5px;" |Normal | ||
| style="background: #F5F5F5; padding: 5px;" |Decreased | | style="background: #F5F5F5; padding: 5px;" |Decreased | ||
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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;" | | ||
| style="background: #F5F5F5; padding: 5px;" |Short parents | | style="background: #F5F5F5; padding: 5px;" |Short parents | ||
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|Normal | |Normal | ||
|Normal | |Normal | ||
|Delayed | |Delayed | ||
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* Growth hormone receptor mutations | * Growth hormone receptor mutations | ||
* IGF-I gene mutations | * IGF-I gene mutations | ||
| style="background: #F5F5F5; padding: 5px;" |Delayed | | style="background: #F5F5F5; padding: 5px;" |Delayed | ||
| style="background: #F5F5F5; padding: 5px;" |Decreased | | style="background: #F5F5F5; padding: 5px;" |Decreased | ||
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|Normal | |Normal | ||
| | | | ||
Mutations in: | Mutations in: | ||
* Paired box 8 (''PAX8)'' | * Paired box 8 (''PAX8)'' | ||
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* thyroid Transcription factor-2 (''TTF2'' | * thyroid Transcription factor-2 (''TTF2'' | ||
* Transcription factors NK2 | * Transcription factors NK2 | ||
|Sluggishness, lethargy, cold intolerance, constipation, decreased reflexes | |Sluggishness, lethargy, cold intolerance, constipation, decreased reflexes | ||
|Decreased | |Decreased | ||
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| style="background: #F5F5F5; padding: 5px;" |Normal | | style="background: #F5F5F5; padding: 5px;" |Normal | ||
| style="background: #F5F5F5; padding: 5px;" |45 X0 | | style="background: #F5F5F5; padding: 5px;" |45 X0 | ||
| style="background: #F5F5F5; padding: 5px;" |Absent | | style="background: #F5F5F5; padding: 5px;" |Absent | ||
| style="background: #F5F5F5; padding: 5px;" |Decreased | | style="background: #F5F5F5; padding: 5px;" |Decreased | ||
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|Normal | |Normal | ||
|Normal | |Normal | ||
| | | Unknown defect | ||
|Delayed | |Delayed | ||
|Decreased | |Decreased | ||
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|Normal | |Normal | ||
|PTPN11 and SOS1 genes abnormality | |PTPN11 and SOS1 genes abnormality | ||
|Delayed | |Delayed | ||
|Decreased | |Decreased | ||
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|- | |- | ||
|Short stature from abuse and neglect | |Short stature from abuse and neglect | ||
|Normal | |||
| | | | ||
|No | |||
| | | | ||
| | | | ||
| | | | ||
| | | | ||
* Failure to thrive | |||
* Poor dentition | |||
* Bad hyegine | |||
* Sad Affect | |||
| | | | ||
| | | | ||
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|Normal | |Normal | ||
|Normal | |Normal | ||
|Delayed | |Delayed | ||
|Decreased | |Decreased |
Revision as of 22:50, 16 August 2017
Growth hormone deficiency Microchapters |
Differentiating Growth hormone deficiency from other Diseases |
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Diagnosis |
Treatment |
Case Studies |
Growth hormone deficiency differential diagnosis On the Web |
American Roentgen Ray Society Images of Growth hormone deficiency differential diagnosis |
Growth hormone deficiency differential diagnosis in the news |
Risk calculators and risk factors for Growth hormone deficiency differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
- [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
- [Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
Differentiating X from other Diseases
Growth hormone deficiencyin 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
- Hyposomatotropism
- Noonan Syndrome
- Panhypopituitarism
- Pediatric Hypothyroidism
- Psychosocial Short Stature
- Short stature accompanying systemic disease
- Short stature from abuse and neglect
- Short stature related to a metabolic abnormality (ie, renal tubular acidosis, poorly controlled diabetes mellitus)
- Short stature related to endocrinopathy (eg, hypothyroidism, Cushing syndrome)
- Silver-Russell Syndrome
- Turner Syndrome
Preferred Table
Minor facial dysmorphism, heart disease, intellectual disability, webbed neck, pectus excavatum, cryptorchidism |
Diseases | Laboratory Findings and imagings | Physical Examination | History and Symptoms | Other Findings | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Bone age | GH level | Genetic analysis | Puberty development | Height velocity | Parents height | Characteristic facies | Finding 1 | Finding 2 | Finding 3 | Finding 4 | ||
Growth hormone deficiency | Dlayed | Low |
|
Delayed | Decreased | Normal |
|
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Achondroplasia | Delayed | Normal |
FGFR3 gene mutations |
Normal | Decreased | Decreased | midface hypoplasia | Short arms and legs | ||||
Familial short stature | Normal | Normal | Short parents
Adult height short for population |
Decreased | Decreased | Normal | ||||||
Constitutional growth delay | Normal | Normal | Normal | Delayed
. |
Normal | Normal | Normal | Family history of delayed growth and puberty | ||||
Growth Hormone Resistance | Delayed | Normal |
|
Delayed | Decreased |
|
||||||
Pediatric Hypothyroidism | Delayed | Normal |
Mutations in:
|
Sluggishness, lethargy, cold intolerance, constipation, decreased reflexes | Decreased | Normal |
|
|||||
Turner Syndrome | Normal | Normal | 45 X0 | Absent | Decreased | Decreased |
| |||||
Silver-Russell Syndrome | Normal | Normal | Unknown defect | Delayed | Decreased | Decreased | Prominent forehead, triangular face, downturned corners of the mouth | hemihypertrophy | ||||
Noonan Syndrome | Normal | Normal | PTPN11 and SOS1 genes abnormality | Delayed | Decreased | Decreased | Minor facial dysmorphism | Heart disease
webbed neck cryptorchidism intellectual disability, | ||||
Short stature from abuse and neglect | Normal | No |
|
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Short stature accompanying systemic disease | Delayed | Normal | Normal | Delayed | Decreased | Normal |