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 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	Lab Test 4	Puberty development	Height velocity	Parents height	Characteristic facies	Finding 1	Finding 2	Finding 3	Finding 4
Growth hormone deficiency	Dlayed	Low			Delayed
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	+		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
Short stature accompanying systemic disease	Delayed	Normal	Normal		Delayed	Decreased	Normal