Growth hormone deficiency differential diagnosis
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Differentiating Growth hormone deficiency from other Diseases |
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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
Differentiating Growth Hormone Deficiency 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
Diseases | Laboratory Findings and imagings | Physical Examination | History and Symptoms | Other Findings | ||||||||
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Bone age | GH level | Genetic analysis | Puberty development | Height velocity | Parents height | Characteristic facies | ||||||
Growth hormone deficiency | Dlayed | Low |
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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 |
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Delayed | Decreased |
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Pediatric Hypothyroidism | Delayed | Normal |
Mutations in:
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Sluggishness, lethargy, cold intolerance, constipation, decreased reflexes | Decreased | Normal |
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Turner Syndrome | Normal | Normal | 45 X0 | Absent | Decreased | Decreased |
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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 |