Growth hormone deficiency differential diagnosis

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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]

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:

• 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

Diseases	Physical Examination				Laboratory findings			History and Symptoms
	Puberty development	Height velocity	Parents height	Characteristic facies	Bone age	Genetic analysis	GH level
Growth hormone deficiency	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	Normal	Decreased	Decreased	midface hypoplasia	Delayed	FGFR3 gene mutations	Normal	Short arms and legs
Familial short stature	Short parents Adult height short for population	Decreased	Decreased	Normal	Normal		Normal
Constitutional growth delay	Delayed .	Normal	Normal	Normal	Normal	Normal	Normal	Family history of delayed growth and puberty
Growth Hormone Resistance	Delayed	Decreased		Face small in relation to head circumference Delayed dentition	Delayed	Growth hormone receptor mutations IGF-I gene mutations	Normal
Pediatric Hypothyroidism	Sluggishness, lethargy, cold intolerance, constipation, decreased reflexes	Decreased	Normal	Puffy facies Macroglossia Large fontanels Micrognathia	Delayed	Mutations in: Paired box 8 (PAX8) thyroid Transcription factor-2 (TTF2 Transcription factors NK2	Normal
Turner Syndrome	Absent	Decreased	Decreased		Normal	45 X0	Normal	Females only Infertility Webbed neck Widely spaced nipples broad chest Genu valgum Short neck Ovarian failure
Silver-Russell Syndrome	Delayed	Decreased	Decreased	Prominent forehead, triangular face, downturned corners of the mouth	Normal	Unknown defect	Normal	hemihypertrophy
Noonan Syndrome	Delayed	Decreased	Decreased	Minor facial dysmorphism	Normal	PTPN11 and SOS1 genes abnormality	Normal	Heart disease webbed neck cryptorchidism intellectual disability,
Short stature from abuse and neglect				Failure to thrive Poor dentition Bad hyegine Sad Affect	Normal	No
Short stature accompanying systemic disease	Delayed	Decreased	Normal		Delayed	Normal	Normal