With early diagnosis and appropriate treatment, children with GHD can achieve improved growth outcomes and lead healthy lives. Increasing understanding of GHD treatment options and closing knowledge gaps can make a difference in the patient and caregiver journey.
(Family Features)
Pediatric growth hormone deficiency (GHD) is a relatively rare condition, affecting an estimated 1 in 4,000-10,000 children. Despite its rarity, GHD can significantly impact a child’s growth and development, which can potentially lead to short stature, delayed puberty, decreased muscle mass, delay in bone maturation and psychosocial implications.
With early diagnosis and appropriate treatment, children with GHD can achieve improved growth outcomes and lead healthy lives. Increasing understanding of GHD treatment options and closing knowledge gaps can make a difference in the patient and caregiver journey.
What is PGHD?
Growth hormone plays a critical role in helping young bodies grow and develop, including improving muscle metabolism, growing bones and breaking down fats.
PGHD occurs when a child’s pituitary gland is unable to produce enough growth hormone which results in noticeable changes on the growth chart.
Children with PGHD may look younger than their peers of the same age and gender, and puberty may be delayed or absent. Muscle development, metabolism and bone strength may also be impacted by insufficient or inadequate levels of growth hormone.
While growth hormone stimulates height increase during development, its role in the body extends beyond childhood. Even after growth plates close, growth hormone plays a vital role for cardiovascular health and for maintaining normal body structure and metabolism. Research also indicates osteoporosis as a long-term implication of GHD, highlighting its importance in overall health and well-being.
What are the Symptoms?
PGHD may be apparent during infancy, or it may not be revealed until later in childhood. Children with PGHD tend to have typical body proportions but noticeably slow growth. Other symptoms may include an immature or significantly younger look than other children of the same age, chubby body build, slow hair and nail growth, teeth that come in late and episodes of low blood sugar.
Children who have experienced a brain injury, brain tumor or radiation treatment involving the head are at higher risk for PGHD. Genetic factors can also increase risk.
How are Children Diagnosed?
Generally, doctors attempt to rule out other causes of slow growth, which may include genetic short stature, poor nutrition – which may be the result of an underlying condition such as celiac disease – and other genetic conditions, such as a hypothyroidism or Turner syndrome.
X-rays to evaluate bone age and imaging to identify the location of the pituitary gland can support the diagnosis. Another common screening option is a growth hormone stimulation test, in which medications are administered to trigger the release of growth hormone and blood is drawn frequently to monitor the body’s response.
What Treatment Options are Available?
Once a diagnosis is confirmed, children with PGHD often work closely with an endocrinologist to develop a treatment plan that includes growth hormone replacement therapy and closely monitor future growth. Dosing is based on weight and requires ongoing monitoring for adjustments. Traditionally, treatment was through daily injections, but more recently, weekly injections became available.
Children with PGHD who begin treatment early in life are more likely to reach adult height consistent with their family’s stature.
Learn more about PGHD at GHDinKids.com.
During a visit to a friend’s house, Erin Swieter noticed her 18-month-old daughter, Ingrid, was about a head shorter than her peer who was six weeks younger. Upon learning her friend’s daughter was only in the 10th percentile for height, Swieter realized Ingrid must be even smaller.
While she was hitting her developmental milestones, she was still wearing 9-to-12-month clothes and had a baby-like appearance. Swieter took her concerns to Ingrid’s pediatrician; her growth charts were monitored closely for the next several months.
Following a move to a new city, the Swieters found a new pediatric endocrinologist, who was instrumental in diagnosing Ingrid. The endocrinologist reviewed previous labs and monitored Ingrid’s growth carefully, eventually diagnosing her with PGHD after a failed growth hormone stimulation test.
“Receiving Ingrid’s diagnosis was a relief, as it confirmed our suspicions and gave us a clear path forward,” Swieter said.
After learning about daily injections, the Swieters were hesitant about proceeding. The Swieters discussed their worries with Ingrid’s pediatric endocrinologist, who recommended weekly injections as a viable option due to Ingrid’s age and the duration of treatment she would likely need.
“We had heard from other parents about the challenges of daily medications, which could pose a problem during travel, day trips or sleepovers at Grandma’s house,” Swieter said. “The weekly injection eliminates the need for a daily treatment routine.”
Navigating the insurance approval process proved challenging, but once Swieter provided evidence of two failed growth hormone stimulation tests, the weekly injections were approved.
“Insurance and pharmacy challenges can be frustrating, but patience and persistence are key,” Swieter said. “Educate yourself about your insurance, treatment options, and medical literature to be a strong advocate for your child.”
Ingrid has embraced opportunities to share her journey with her condition through a school project, proudly engaging her classmates in conversations about her experience. At the same time, she is making strides physically, continuing to grow and thrive.
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