Learn About Gigantism

Introduction to Gigantism

Gigantism is a rare but serious hormonal disorder that causes excessive height and body growth in children and adolescents. It occurs when the body produces too much growth hormone (GH) before the growth plates in the bones have closed. This leads to unusually tall stature, large hands and feet, and facial changes. Beyond appearance, gigantism can lead to serious complications affecting the heart, metabolism, and joints, which require lifelong medical care. 

Gigantism has long intrigued scientists and the public due to its striking physical manifestations, but it is a complex medical condition that reflects a deeper problem in the endocrine system—specifically the pituitary gland. Understanding its causes, symptoms, diagnosis, and treatment is crucial for early detection and management. This article provides a comprehensive overview of gigantism to help patients, families, and caregivers better understand the condition and available treatment options. 

What is Gigantism?

Gigantism is a condition where a child grows abnormally tall because of excessive secretion of growth hormone from the pituitary gland during the years before growth plates close. The disorder usually results from a benign tumor of the pituitary gland called an adenoma, which overstimulates GH production. 

Key features of gigantism include: 

  • Height well above the 97th percentile for age and sex 
  • Enlarged hands, feet, and facial features 
  • Persistently high GH and insulin-like growth factor 1 (IGF-1) levels 

While gigantism affects growing children, a similar condition in adults called acromegaly occurs after the growth plates have fused, leading to bone thickening rather than increased height. Both share similar underlying mechanisms and complications. 

Gigantism is extremely rare, with only a few hundred cases reported worldwide. It often becomes noticeable in late childhood or early adolescence when growth accelerates rapidly beyond expected patterns. 

How common is Gigantism?

Gigantism is extremely rare. Estimates suggest an incidence of about 1 in several million children. It affects both males and females, often becoming apparent during puberty when normal growth is already accelerated. Genetic factors or syndromes may account for a subset of cases, particularly in early childhood onset. 

Causes and risk factors for Gigantism

The primary cause of gigantism is excessive secretion of growth hormone, usually from the pituitary gland. This overproduction can result from tumors, genetic syndromes, or, rarely, other medical issues. 

Common causes include: 

Pituitary Causes: 

  • GH-secreting pituitary adenoma (most common) 
  • Mixed adenomas secreting both GH and prolactin 
  • Hyperplasia (overgrowth) of GH-producing cells 

Hypothalamic Causes: 

  • Tumors that produce growth hormone-releasing hormone (GHRH) 
  • Rare ectopic GHRH secretion from non-pituitary tumors 

Genetic and Syndromic Conditions: 

  • McCune-Albright syndrome 
  • Multiple Endocrine Neoplasia type 1 (MEN1) 
  • Carney complex 
  • Familial isolated pituitary adenomas (FIPA) 
  • Mutations in the AIP gene (Aryl hydrocarbon receptor-interacting protein) 

Other Rare Causes: 

  • Ectopic GH production 
  • Prolonged or inappropriate use of growth hormone therapy 

Family history of pituitary or endocrine disorders can increase the risk, emphasizing the importance of genetic counseling in affected families. 

How does Gigantism develop?

Under normal circumstances, the hypothalamus and pituitary gland work together to regulate growth. The hypothalamus releases GHRH to stimulate GH production and somatostatin to inhibit it. GH then acts on the liver and tissues to produce IGF-1, which promotes bone and tissue growth. 

In gigantism, a pituitary adenoma or other abnormality disrupts this balance, leading to unregulated GH production. This continuous stimulation causes: 

  • Overgrowth of long bones (leading to tall stature) 
  • Enlargement of soft tissues and facial bones 
  • Organ enlargement (organomegaly) 

Long-term GH excess also causes metabolic and cardiovascular strain, including insulin resistance, high blood pressure, and heart enlargement. 

Signs and symptoms of Gigantism

The hallmark of gigantism is rapid and excessive growth. However, the condition affects many body systems, leading to a broad range of symptoms. 

Common signs and symptoms include: 

Growth Changes: 

  • Height significantly above normal for age and sex 
  • Rapid growth rate over months or years 
  • Enlarged hands and feet 

Facial and Musculoskeletal Changes: 

  • Enlarged jaw and forehead (prognathism, frontal bossing) 
  • Widened nose and thickened lips 
  • Spinal deformities (scoliosis, kyphosis) 
  • Joint pain and stiffness 

Neurological Symptoms: 

  • Headaches 
  • Visual problems (due to tumor pressure on the optic nerves) 

Metabolic and Cardiovascular Effects: 

  • Excessive sweating (hyperhidrosis) 
  • High blood sugar or diabetes 
  • High blood pressure 
  • Heart enlargement (cardiomegaly) 

Other Signs: 

  • Oily or thickened skin 
  • Delayed puberty or reproductive issues 
  • Milk discharge from breasts (galactorrhea) if prolactin is elevated 
How is Gigantism diagnosed?

Early detection is vital to prevent irreversible changes and complications. 

Diagnostic evaluation includes: 

Clinical Examination: 

  • Tracking growth patterns and comparing to growth charts 
  • Assessing facial and hand features 
  • Checking for vision loss or headaches 

Laboratory Testing: 

  • IGF-1 test: Confirms GH overproduction 
  • Oral Glucose Tolerance Test (OGTT): GH levels normally decrease after glucose intake; failure to suppress indicates GH excess 
  • Other hormone tests: Evaluate pituitary function and rule out associated hormone imbalances 

Imaging: 

  • MRI of the pituitary gland: Detects adenomas or other abnormalities 
  • Visual field testing: Evaluates optic nerve compression 

Genetic Testing: 

  • Recommended if there is family history or early onset, to identify MEN1, AIP, or Carney complex mutations. 

Additional Evaluations: 

  • Heart ultrasound (echocardiogram) 
  • Blood sugar and cholesterol levels 
  • Colonoscopy if risk of intestinal polyps is suspected 
Differential diagnosis of Gigantism

Several conditions can mimic gigantism but differ in cause or presentation: 

  • Marfan Syndrome: Tall, thin build with long limbs but normal GH levels 
  • Klinefelter Syndrome: Tall males with infertility and low testosterone 
  • Sotos Syndrome: Childhood overgrowth with developmental delay but normal GH levels 
  • Homocystinuria: Tall stature with learning difficulties and blood clotting issues 
  • Familial Tall Stature: Naturally tall family members with normal hormone levels 

Differentiating these from true gigantism requires hormone tests and imaging studies. 

Treatment of Gigantism

The goal of treatment is to reduce GH levels, control tumor growth, and manage complications. 

Medical Treatments 

  • Somatostatin analogues (Octreotide, Lanreotide): Inhibit GH secretion and may shrink the tumor. 
  • GH receptor antagonist (Pegvisomant): Blocks GH effects and normalizes IGF-1 levels. 
  • Dopamine agonists (Cabergoline, Bromocriptine): Useful for tumors that also secrete prolactin. 

Surgical Treatment 

Transsphenoidal surgery is the first-line treatment for pituitary adenomas. It involves removing the tumor through the nasal cavity. Surgical success depends on tumor size and location. Smaller tumors have higher cure rates. 

Radiation Therapy 

Used when surgery or medications are not fully effective. Options include stereotactic radiosurgery (e.g., Gamma Knife) or conventional radiotherapy. Radiation can take months to years to normalize GH levels and may cause later pituitary hormone deficiencies. 

Managing Complications 

  • Diabetes and hypertension: Controlled with medication and lifestyle changes 
  • Sleep apnea: Managed with breathing devices (CPAP) 
  • Joint pain: Treated with physical therapy and pain relief 
  • Emotional support: Counseling to address self-esteem and social challenges 
Complications of Gigantism

If untreated, gigantism can lead to serious and life-threatening complications: 

  • Heart disease and heart failure 
  • Diabetes and insulin resistance 
  • High blood pressure 
  • Arthritis and joint damage 
  • Sleep apnea and breathing problems 
  • Vision loss from tumor pressure 
  • Emotional distress, anxiety, and social isolation 
Prognosis of Gigantism

Outcomes depend on early diagnosis and treatment success. Early removal of small pituitary tumors can lead to full hormonal control. Delayed treatment may result in permanent skeletal changes, metabolic issues, and reduced life expectancy due to cardiovascular complications. 

Regular follow-up is essential to monitor GH and IGF-1 levels, pituitary function, and tumor recurrence. With modern therapies, many patients achieve long-term control and lead healthy lives. 

Prevention and risk reduction for Gigantism

While gigantism cannot always be prevented, certain measures help with early detection and complication management: 

  • Routine growth monitoring in children 
  • Prompt endocrinology referral for unexplained rapid growth 
  • Pituitary imaging when GH excess is suspected 
  • Genetic counseling for families with known syndromes 
  • Ongoing screening for heart and metabolic health 
Living with Gigantism

Living with gigantism requires ongoing medical care and emotional support. Regular endocrinology visits help manage hormone levels and detect tumor recurrence early. Support groups and counseling can help children and families cope with body image concerns and social challenges. Adopting a healthy lifestyle with balanced nutrition, regular exercise, and stress management supports overall well-being. 

Conclusion

Gigantism is a rare endocrine disorder caused by excess growth hormone secretion before bone growth plates close. While it leads to dramatic physical changes, early detection and treatment can prevent severe complications. A multidisciplinary care team—including endocrinologists, neurosurgeons, cardiologists, and mental health professionals—is essential for comprehensive management. Advances in medical and surgical therapies have significantly improved outcomes, offering affected individuals the chance for normal development and a better quality of life. 

References
  1. Melmed S, Bronstein MD, Chanson P, et al. A Consensus Statement on acromegaly therapeutic outcomes. Nat Rev Endocrinol. 2018;14(9):552–561. 
  1. Colao A, Grasso LFS, Giustina A, et al. Acromegaly: epidemiology and treatment-related morbidity. Pituitary. 2019;22(2):211–222. 
  1. Savastano S, Colao A. Acromegaly and Gigantism. In: Feingold KR, Anawalt B, Boyce A, et al., editors. Endotext [Internet]. MDText.com, Inc.; 2000. 
  1. Rostomyan L, Daly AF, Beckers A. Clinical and genetic aspects of gigantism: a review. Endocrine. 2015;48(3):687–694. 
  1. Giustina A, Chanson P, Bronstein MD, et al. Acromegaly consensus guidelines: The 2020 update. Nat Rev Endocrinol. 2020;16(12):655–666. 
Who are the top Gigantism Local Doctors?
Maya Lodish
Elite in Gigantism
Pediatric Endocrinology
Elite in Gigantism
Pediatric Endocrinology

Ucsf

1500 Owens St, Suite 300, 
San Francisco, CA 
Languages Spoken:
English
Offers Telehealth

Maya Lodish is a Pediatric Endocrinologist in San Francisco, California. Dr. Lodish is rated as an Elite provider by MediFind in the treatment of Gigantism. Her top areas of expertise are Cushing's syndrome, Cushing's disease, Gigantism, Pituitary Tumor, and Thyroidectomy.

Elite in Gigantism
Elite in Gigantism
Liege, WAL, BE 

Adrian Daly practices in Liege, Belgium. Mr. Daly is rated as an Elite expert by MediFind in the treatment of Gigantism. His top areas of expertise are Gigantism, Pituitary Tumor, Hypothalamic Tumor, and Acromegaloid Facial Appearance Syndrome.

 
 
 
 
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Elite in Gigantism
Elite in Gigantism
Liege, WAL, BE 

Albert Beckers practices in Liege, Belgium. Mr. Beckers is rated as an Elite expert by MediFind in the treatment of Gigantism. His top areas of expertise are Gigantism, Pituitary Tumor, Hypothalamic Tumor, and Brain Tumor.

What are the latest Gigantism Clinical Trials?
A Clinical and Genetic Investigation of Pituitary and Hypothalamic Tumors and Related Disorders

Summary: There is a variety of tumors affecting the pituitary gland in childhood; some of these tumors (eg craniopharyngioma) are included among the most common central nervous system tumors in childhood. The gene(s) involved in the pathogenesis of these tumors are largely not known; their possible association with other developmental defects or inheritance pattern(s) has not been investigated. The present...

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MEASuRE: Metreleptin Effectiveness And Safety Registry

Summary: The study is a post-authorization, prospective, voluntary registry of patients treated with commercial metreleptin including, but not limited to, patients in the US and EEA.