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]

Overview

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
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

References

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