Growth Hormone Disorders

Growth hormone deficiency (GHD) results from inadequate growth hormone (GH) release from the somatotroph cells of the anterior pituitary gland. GHD can occur in children, adolescents, and adults. Clinical features associated with GHD include short stature, poor height velocity, relative weight preservation, and delayed bone age.1,2 Incidence of child-onset GHD is approximately 1:4,000 to 1:10,000 live births. An estimated 6,000 new cases of adult-onset GHD are diagnosed each year in the US.3 Growth hormone replacement therapy is used to treat GHD in both children and adults.1,2  

Other growth hormone disorders present with similar clinical features are also treated using growth hormone replacement therapy. For example, Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature (50-70% of individuals with NS have short stature), facial dysmorphology, and congenital heart defects. NS occurs in 1:1,000 to 1:2,500 live births.4,5 Turner syndrome (TS), a congenital disorder affecting only females, is caused by the loss of all, or a critical part, of one X chromosome. TS occurs in approximately 1:2,000 to 1:4,000 live births.6 Clinical features of TS may include short stature, infertility, lymphedema, and webbed neck.7 Growth hormone therapy is also used in children born small for gestational age (SGA) who show no evidence of catch-up growth by ages 2-4. A child is considered SGA if he/she falls below a designated percentile for growth.8 In 2014, there were ~320,000 children born with SGA in the US.9

Growth Hormone Disorders

Growth hormone deficiency (GHD) results from inadequate growth hormone (GH) release from the somatotroph cells of the anterior pituitary gland. GHD can occur in children, adolescents, and adults. Clinical features associated with GHD include short stature, poor height velocity, relative weight preservation, and delayed bone age.1,2 Incidence of child-onset GHD is approximately 1:4,000 to 1:10,000 live births. An estimated 6,000 new cases of adult-onset GHD are diagnosed each year in the US.3 Growth hormone replacement therapy is used to treat GHD in both children and adults.1,2  

Other growth hormone disorders present with similar clinical features are also treated using growth hormone replacement therapy. For example, Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature (50-70% of individuals with NS have short stature), facial dysmorphology, and congenital heart defects. NS occurs in 1:1,000 to 1:2,500 live births.4,5 Turner syndrome (TS), a congenital disorder affecting only females, is caused by the loss of all, or a critical part, of one X chromosome. TS occurs in approximately 1:2,000 to 1:4,000 live births.6 Clinical features of TS may include short stature, infertility, lymphedema, and webbed neck.7 Growth hormone therapy is also used in children born small for gestational age (SGA) who show no evidence of catch-up growth by ages 2-4. A child is considered SGA if he/she falls below a designated percentile for growth.8 In 2014, there were ~320,000 children born with SGA in the US.9

References

  1. Reh CS, Geffner ME. Somatotropin in the treatment of growth hormone deficiency and Turner syndrome in pediatric patients: a review. Clin Pharmacol. 2010;2:111–122.
  2. Growth Hormone Research Foundation. Consensus guidelines for the diagnosis and treatment of growth hormone(GH) deficiency in childhood and adolescence. J Clin Endocinol Metab. 2000;85(11):3900-3993.
  3. Cook DM, et al. American association of clinical endocrinologists medical guidelines for clinical practice for growth hormone use in growth hormone-deficient adults and transition patients—2009 update. Endocr Pract. 2009;15(suppl 2):1-29.
  4. Romano AA et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126(4): 746-759.
  5. van der Burgt I, et al. Noonan syndrome. Orphanet J Rare Dis. 2007;2(4):1-6.
  6. Davenport MJ, et al. Approach to the patient with Turner syndrome. Clin Endocrinol Metab. 2010;95(4):1487-1495.
  7. Elsheik M, et al. Turner’s syndrome in adulthood. Endocr Rev. 2002;23(1):120-140.
  8. Clayton PE, et al. Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. J Clin Endocrinol Metab. 2007;92(3):804-810.
  9. Hamilton BE, et al. National Vital Statistics Reports. Centers for Disease Control and Prevention. 2015;64(12).