Growth Hormone Deficiency in Children: Signs, Causes, and Treatment

Most short children don't have growth hormone deficiency. But for the small percentage who do, it's the most treatable cause of short stature — and early diagnosis makes a meaningful difference in adult height and quality of life.

Here's how to tell the difference between normal short stature and GHD, what the diagnostic process looks like, and what treatment actually achieves.

What Growth Hormone Does

Growth hormone (GH) is released from the pituitary gland — a pea-sized gland at the base of the brain — in pulses, primarily during deep sleep. It drives growth at the skeletal level by stimulating the liver to produce insulin-like growth factor 1 (IGF-1), which directly promotes bone lengthening at the growth plates in long bones.

GH also affects:

• Fat metabolism (shifts energy use toward fat burning)
• Muscle mass development
• Glucose regulation
• Bone density

A child with GHD is deficient in this signal — not in the bones' ability to grow, but in the hormone that tells them to.

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Who Gets Growth Hormone Deficiency

GHD can be present from birth (congenital) or develop later (acquired):

Source: AAP Endocrine Section; Grimberg et al., Pediatrics 2016

Importantly, most GHD causes don't involve a tumour. The majority of congenital GHD cases have no identified structural abnormality.

The Warning Signs: When to Suspect GHD

Short stature alone rarely justifies a GHD workup. The more specific indicators are:

1. Growth velocity consistently below 4 cm/year

A normal 5-year-old grows 5–7 cm per year. A child growing only 2–3 cm per year is falling further behind their peers with each passing year, regardless of their starting percentile.

2. Height below the 3rd percentile AND decelerating

A child who has always been at the 3rd percentile and is growing parallel to the curve likely has familial short stature, not GHD. A child who was at the 25th percentile and has been crossing lines downward over 2–3 years is a more urgent evaluation priority.

3. Bone age significantly younger than chronological age

GHD children typically have a bone age that lags their chronological age by 2+ years. This is assessed via hand/wrist X-ray. A younger bone age means more growth potential remains — and is associated with better treatment outcomes.

4. Physical features associated with GHD

• Frontal bossing (prominent forehead)
• Mid-face underdevelopment (nasal root looks flattened)
• Adiposity (chubby appearance despite short stature — fat metabolism is impaired)
• Small hands and feet for age
• High-pitched voice
• Delayed tooth eruption

5. Neonatal hypoglycaemia or prolonged jaundice

Congenital GHD often presents at birth with low blood sugar (GH is involved in glucose regulation) and prolonged jaundice. Neonatologists screen for this.

The Diagnostic Pathway

If your paediatrician is concerned about growth velocity, the referral pathway is to a paediatric endocrinologist — a specialist in childhood hormone disorders. The workup typically involves:

The GH stimulation test is the gold standard. The child receives either arginine, insulin (in older children), clonidine, or glucagon, and blood GH levels are drawn over 2–3 hours. A peak response below 10 ng/mL (threshold varies by lab protocol) confirms GHD.

IGF-1 levels are the best screening blood test — a single GH level is essentially useless because GH is secreted in bursts throughout the day.

Treatment: Recombinant Growth Hormone

The standard treatment for confirmed GHD is recombinant human growth hormone (rhGH) — synthetically produced GH identical to human GH. It has been used since 1985, replacing the earlier (now discontinued) cadaveric pituitary-derived GH.

Administration: Daily subcutaneous injections, typically given by parents at home in the evening (to mimic the natural nocturnal GH secretion pattern). Injection devices are now insulin-pen-like and well-tolerated by most children.

Response: Growth acceleration is typically dramatic in the first year — often 10–12 cm/year compared to the pre-treatment velocity of 3–4 cm/year.

Expected height gain from treatment:

• Most studies show an additional 5–10 cm of adult height compared to untreated GHD
• Earlier diagnosis → more years of treatment before growth plates close → more height gained
• Children with lower IGF-1 and more severe GHD typically respond more robustly

Other approved uses of rhGH: rhGH is also FDA-approved for small for gestational age (SGA) children without catch-up growth by age 2, Turner syndrome, Prader-Willi syndrome, chronic kidney disease, and idiopathic short stature. These are different indications from GHD and have different evidence profiles.

Side Effects and Monitoring

rhGH is generally very well-tolerated. Known risks:

• Slipped capital femoral epiphysis (SCFE): Hip pain or a limp during rapid growth — requires immediate evaluation
• Intracranial hypertension: Headache, vision changes — rare, typically resolves with dose adjustment
• Scoliosis acceleration: Rapid growth can exacerbate existing mild scoliosis
• Blood glucose changes: GH is counter-regulatory to insulin; watch in children with risk factors for diabetes

Annual monitoring includes IGF-1 levels (to calibrate dosing), bone age repeat X-ray, and growth velocity assessment.

When to Call Your Doctor

Discuss with your paediatrician at any upcoming visit if:

• Your child's height velocity looks slower than their peers' (consistently less than 5 cm/year after age 3)
• They've fallen from a higher to a lower percentile channel over 1–2 years
• They have a history of delayed tooth eruption, prolonged neonatal jaundice, or neonatal hypoglycaemia

Request a referral to paediatric endocrinology if:

• Two years of measurements show velocity below 4 cm/year
• Height is below the 3rd percentile and family history doesn't account for it
• Your child shows physical signs of GHD (front bossing, adiposity without explanation)

GHD is rare — but it's diagnosable, treatable, and responds best to early identification. The measurement you do today, compared to the one from a year ago, is often the first data point that starts the right conversation. If you're wondering whether a referral is warranted, when to see a pediatric endocrinologist for growth lays out the specific thresholds.