When children aren’t growing properly, it may be an indication of a treatable medical condition!

Sept 20th – International Children’s Growth Awareness DayICOSEP- International Coalition of Organizations Supporting Endocrine Patients

Here are some rare diseases that are characterized by abnormal growth:

  • CAH (Congenital Adrenal Hyperplasia)
  • ONH/SOD (Optic Nerve Hypoplasia / Septo Optic Dysplasia)
  • Hypothyroidism
  • PGHD (Pediatric Growth Hormone Deficiency)
  • RSS (Russell Silver Syndrome)
  • SGA (Small for Gestational Age)
  • Hypophosphatasia
  • Turner Syndrome
  • Panhypopituitarism
  • IGFD (Insulin-like Growth Factor Deficiency)
  • MAS (McCune-Albright Syndrome
  • Precocious Puberty ISS (Idiopathic Short Stature)


  • Early identification of abnormal growth patterns and prompt referral to specialist care (pediatric endocrinology) offer children with growth failure and/or short stature the greatest chance for appropriate diagnosis, treatment, and improved clinical outcomes¹
    Infants and children with PGHD have growth failure
  • Short stature and growth failure may be the only clinical features present
  • Deficiency in growth could range from severe to moderate


  • PGHD can be one or more of the following:
    • Congenital (children are born with the condition)
    • Acquired (brain tumor, head injuries or other causes)
    • Iatrogenic (induced by treatment for cancer)
    • Idiopathic (of unknown cause)

PGHD may affect one in 4000 children²


These are the GH Research Society’s consensus guidelines on when to consider investigating for PGHD¹.

  • Severe short stature, defined as a height more than 3 SD below the mean
  • Height more than 1.5 SD below the mid-parental height
  • Height more than 2 SD below the mean and a height velocity over 1 year more than 1 SD below the mean for chronological age, or a decrease in height SD of more than 0.5 over 1 year in children over 2 years of age
  • In the absence of short stature, a height velocity more than 2 SD below the mean over 1 year or more than 1.5 SD sustained over 2 years; this may occur in growth hormone deficiency (GHD), presenting in infancy, or in organic acquired GHD.
  • Signs indicative of an intracranial lesion
  • Signs of Multiple Pituitary Hormone
    Deficiency (MPHD)
  • Neonatal symptoms and signs of GHD


Patient history (past medical, family, and social) and a review of systems are important areas to review in children presenting with growth impairment 2


The diagnosis of PGHD in childhood is a multifaceted process requiring comprehensive clinical and auxological assessment*, combined with biochemical tests.

  • Evaluation and management by a pediatric endocrinologist
  • Radiologic evaluation of bone age
  • Central nervous system magnetic resonance imaging (MRI) or computed tomography scan (CT) to evaluate the hypothalamic-pituitary region and to exclude other conditions
  • Laboratory measurements and evaluations:
    • GH (growth hormone)
    • IGF-1 (insulin-like growth factor 1)
    • IGF binding protein levels
  • Stimulation Test: Determination of peak GH levels
  • Genetic testing (if applicable) Family history and genetic analyses (ex. search for mutations in POU1F1, PROP1, LHX3, LHX4, HESX1, OTX2, SOX2, SOX3, GLI2, GLI3, FGFR1, FGF8 and PROKR2)


*auxology is a meta-term covering the study of all aspects of human physical growth.



  • Once the diagnosis of pediatric growth hormone deficiency is established, existing available treatment is once daily subcutaneous injection of recombinant human GH
  • The endocrinologist will decide on the dosing and titration of the therapy based on multiple factors (e.g. IGF-1 levels, response to therapy).
  • Compliance is a major concern as the therapy involves daily injections of GH



Pediatric Endocrinologists are the healthcare providers that diagnose and treat PGHD

Connecting with others who understand and can help with patient/caregiver support for Pediatric Growth Hormone Deficiency is important.

Here are some organizations that could help: (links are displayed in yellow)

Human Growth Foundation

Child Growth Foundation

The MAGIC Foundation

If you are a member of a Pediatric Growth Hormone Deficiency patient organization and would like to be listed here, please contact us



1.  GH Research Society. Consensus Guidelines for the Diagnosis and Treatment of Growth Hormone (GH) Deficiency in Childhood and Adolescence: Summary Statement of the GH Research Society The Journal of Clinical Endocrinology & Metabolism, Volume 85, Issue 11, 1 November 2000, Pages 3990–3993 https://doi.org/10.1210/jcem.85.11.6984

2. PG Murray, M T Dattani, P E Clayton Controversies in the diagnosis and management of growth hormone deficiency in childhood and adolescence, BMJ Journals Archives of Disease in Childhood July 2015 https://adc.bmj.com/content/101/1/96.long