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:

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 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
	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	POU1F1 gene mutations  GH1 gene mutations	Delayed	Decreased	Normal	Doll-like fat distribution pattern Immature face with under developed nasal bridge Infantile voice
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	Growth hormone receptor mutations IGF-I gene mutations	Delayed	Decreased		Face small in relation to head circumference Delayed dentition
Pediatric Hypothyroidism	Delayed	Normal	Mutations in: Paired box 8 (PAX8) thyroid Transcription factor-2 (TTF2 Transcription factors NK2	Sluggishness, lethargy, cold intolerance, constipation, decreased reflexes	Decreased	Normal	Puffy facies Macroglossia Large fontanels Micrognathia
Turner Syndrome	Normal	Normal	45 X0	Absent	Decreased	Decreased						Females only Infertility Webbed neck Widely spaced nipples broad chest Genu valgum Short neck Ovarian failure
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				Failure to thrive Poor dentition Bad hyegine Sad Affect
Short stature accompanying systemic disease	Delayed	Normal	Normal	Delayed	Decreased	Normal