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

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
Delayed

FGFR3 gene mutations

Normal
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
Delayed

.

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
Delayed

Mutations in:

  • Thyroid Transcription factor-2 (TTF2)
  • Transcription factors NK2
Normal
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

References

  1. Yadav S, Dabas A (2015). "Approach to short stature". Indian J Pediatr. 82 (5): 462–70. doi:10.1007/s12098-014-1609-y. PMID 25465677.
  2. Colao A, Di Somma C, Pivonello R, Loche S, Aimaretti G, Cerbone G; et al. (1999). "Bone loss is correlated to the severity of growth hormone deficiency in adult patients with hypopituitarism". J Clin Endocrinol Metab. 84 (6): 1919–24. doi:10.1210/jcem.84.6.5742. PMID 10372687.
  3. Bouali H, Latrech H (2015). "Achondroplasia: Current Options and Future Perspective". Pediatr Endocrinol Rev. 12 (4): 388–95. PMID 26182483.
  4. Kawashima Y, Hakuno F, Okada S, Hotsubo T, Kinoshita T, Fujimoto M; et al. (2014). "Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation". Clin Endocrinol (Oxf). 81 (2): 312–4. doi:10.1111/cen.12317. PMID 24033502.
  5. Vaaralahti K, Wehkalampi K, Tommiska J, Laitinen EM, Dunkel L, Raivio T (2011). "The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty". Fertil Steril. 95 (8): 2756–8. doi:10.1016/j.fertnstert.2010.12.059. PMID 21292259.
  6. Kurtoğlu S, Hatipoglu N (2016). "Growth hormone insensitivity: diagnostic and therapeutic approaches". J Endocrinol Invest. 39 (1): 19–28. doi:10.1007/s40618-015-0327-2. PMID 26062520.
  7. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G; et al. (2014). "European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism". Horm Res Paediatr. 81 (2): 80–103. doi:10.1159/000358198. PMID 24662106.
  8. Trovó de Marqui AB (2015). "[Turner syndrome and genetic polymorphism: a systematic review]". Rev Paul Pediatr. 33 (3): 364–71. doi:10.1016/j.rpped.2014.11.014. PMC 4620965. PMID 25765448.
  9. Wakeling EL (2011). "Silver-Russell syndrome". Arch Dis Child. 96 (12): 1156–61. doi:10.1136/adc.2010.190165. PMID 21349887.
  10. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R; et al. (2007). "Germline gain-of-function mutations in RAF1 cause Noonan syndrome". Nat Genet. 39 (8): 1013–7. doi:10.1038/ng2078. PMID 17603482.
  11. Sandberg DE, Gardner M (2015). "Short Stature: Is It a Psychosocial Problem and Does Changing Height Matter?". Pediatr Clin North Am. 62 (4): 963–82. doi:10.1016/j.pcl.2015.04.009. PMID 26210627.
  12. Sanderson IR (2014). "Growth problems in children with IBD". Nat Rev Gastroenterol Hepatol. 11 (10): 601–10. doi:10.1038/nrgastro.2014.102. PMID 24957008.
  13. Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P (2008). "Idiopathic short stature: definition, epidemiology, and diagnostic evaluation". Growth Horm IGF Res. 18 (2): 89–110. doi:10.1016/j.ghir.2007.11.004. PMID 18182313.
  14. Ouni M, Castell AL, Rothenbuhler A, Linglart A, Bougnères P (2015). "Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature". Clin Endocrinol (Oxf). doi:10.1111/cen.12867. PMID 26218795.



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