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				Physical Examination				History and Symptoms				Other Findings
	Bone age	Lab Test 2	Lab Test 3	Lab Test 4	Physical Finding 1	Height velocity	Physical Finding 3	Physical Finding 4	Finding 1	Finding 2	Finding 3	Finding 4
Growth hormone deficiency
Achondroplasia					Short arms and legs, midface hypoplasia, trident hands. Most cases identified prenatally or in early infancy.
Familial short stature					Short parents Adult height short for population
Constitutional growth delay					Normal bone age but delayed chronological age Family history of delayed growth and/or puberty. Delayed puberty Adult height usually normal.
Growth Hormone Resistance
Hyposomatotropism
Panhypopituitarism
Pediatric Hypothyroidism					Sluggishness, lethargy, cold intolerance, constipation, decreased reflexes
Turner Syndrome					Square "shield" chest, webbed neck, cubitus valgus◊, genu valgum, Madelung deformity§. Up to 50 percent have only short stature and absent pubertal development.
Silver-Russell Syndrome					Severe intrauterine growth restriction and postnatal growth retardation. Prominent forehead, triangular face, downturned corners of the mouth, and body asymmetry (hemihypertrophy)
Noonan Syndrome					Minor facial dysmorphism, heart disease, intellectual disability, webbed neck, pectus excavatum, cryptorchidism
Short stature from abuse and neglect
Short stature accompanying systemic disease