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]


Growth hormone deficiency in children must be differentiated from other diseases that cause short stature such as: Achondroplasia, constitutional growth delay, familial short stature, growth hormone resistance, Noonan Syndrome, Panhypopituitarism, pediatric hypothyroidism, short stature accompanying systemic disease, psychosocial short stature, Silver-Russell Syndrome, Turner Syndrome, and idiopathic short stature.

Differentiating Growth Hormone Deficiency from other Diseases

Growth hormone deficiency in children must be differentiated from other diseases that cause short stature. Short stature is defined as the height that is 2 standard deviations(SD) or more below the mean height for children of that sex and chronological age in a given population.[1] Theses causes include:

Diseases History and symptoms Physical Examination Laboratory findings
Puberty development Height velocity Parents height Characteristic facies Bone age Genetic analysis GH level
Growth hormone deficiency[2] Delayed Decreased Normal
  • Doll-like fat distribution pattern
  • Immature face with under developed nasal bridge
  • Infantile voice
Delayed Low
Achondroplasia[3] Normal Decreased Decreased
  • Large heads
  • Prominent forehead
  • Midface hypoplasia

FGFR3 gene mutations

Familial short stature[4]
  • A normal variant with normal signs, investigations.
  • Positive family history
Normal Decreased Decreased Normal Normal Heterozygous IGF1 Splicing mutation Normal
Constitutional growth delay[5]
  • Family history of delayed growth spurt and puberty
  • Childhood short stature but relatively normal adult height
  • Normal size at birth
  • A delayed growth rate begins at three to six months of age
  • A family history of delayed growth and puberty in one or both parents


Normal Normal Normal Normal Mutations in Variation in FGFR1GNRHR, TAC3, and TACR3 genes Normal
Growth Hormone Resistance[6] Delayed Decreased Normal
  • Small face in relation to head circumference
  • Delayed dentition
Delayed Normal
Pediatric hypothyroidism[7] Delayed Decreased Normal
  • Puffy face

Mutations in:

  • Thyroid Transcription factor-2 (TTF2)
  • Transcription factors NK2
Turner syndrome[8] Absent Decreased Decreased Normal 45 X0 Normal
Silver-Russell Syndrome[9] Delayed Decreased Decreased
  • Prominent forehead
  • Triangular face
  • Downturned corners of the mouth
  • Small jaw
  • Pointed chin
Normal Methylation involving the H19 and IGF2 genes  Normal
Noonan syndrome[10] Delayed Decreased Decreased Minor facial dysmorphism Normal PTPN11 and SOS1 genes abnormality Normal
Psychosocial short stature[11]
  • A disorder of short stature or growth that is observed in association with emotional deprivation
  • A disturbed relationship between child and caregiver is usually noted.
  • A history of abuse or neglect and emotional deprivation
  • The relationship between the caregiver and the child appears to be abnormal.
Delayed Decreased Normal Normal Normal Maybe low
Short stature accompanying systemic disease[12] Delayed Decreased Normal Failure to thrive Delayed Normal Normal
Idiopathic short stature[13] A height below 2 standard deviations (SD) of the mean for age, in the absence of any endocrine, metabolic, or other diagnosis Normal Decreased Normal Normal Delayed SHOX gene mutations[14] Normal


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