Growth hormone deficiency in children - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Growth hormone deficiency (GHD) in children is a rare but treatable cause of growth failure in children. Growth hormone (GH) also has effects on bone mineral density, body composition, metabolic profile, and quality of life.
May be isolated (IGHD) or combined with other anterior and/or posterior pituitary hormone deficiencies (CPHD). The cause may be congenital or acquired.
Diagnosis is based on a combination of biochemistry, neuroradiology, and clinical phenotype.
Treatment in the form of recombinant human GH (rhGH) is safe and highly efficacious. Rapid diagnosis with early treatment results in attainment of a normal final height in most individuals.
Associated pituitary hormone deficiencies require treatment with hormone replacement and can evolve over time.

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History & Exam
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Definition

Epidemiology

Etiology

Pathophysiology

Images

Types of familial isolated growth hormone deficiency syndromes. CPHD, combined pituitary hormone deficiencies; GH, growth hormone; IGHD, isolated growth hormone deficiency; rhGH, recombinant human growth hormone; TSH, thyroid-stimulating hormone; PRL, prolactin

Citations

Key Articles

Mehta A, Dattani MT. Congenital disorders of the hypothalamic-pituitary axis. In: Brook CG, Clayton PE, Brown RS, et al., eds. Clinical pediatric endocrinology. 5th ed. Oxford, United Kingdom: Blackwell Publishing; 2005:62-89.
Hage C, Gan HW, Ibba A, et al. Advances in differential diagnosis and management of growth hormone deficiency in children. Nat Rev Endocrinol. 2021 Oct;17(10):608-24.[Abstract]
Grimberg A, DiVall SA, Polychronakos C, et al. Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency. Horm Res Paediatr. 2016;86(6):361-97.[Abstract][Full Text]
Sklar CA, Antal Z, Chemaitilly W, et al. Hypothalamic-pituitary and growth disorders in survivors of childhood cancer: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018 Aug 1;103(8):2761-84.[Abstract][Full Text]
Segal TY, Mehta A, Anazodo A, et al. Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty. J Clin Endocrinol Metab. 2009 Mar;94(3):780-5.[Abstract]
Dattani M, Preece M. Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. Lancet. 2004 Jun 12;363(9425):1977-87.[Abstract]
Ho KK, 2007 GH Deficiency Consensus Workshop Participants. Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: a statement of the GH Research Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia. Eur J Endocrinol. 2007 Dec;157(6):695-700.[Abstract][Full Text]

Other Online Resources

Child Growth Foundation: growth hormone deficiency - a guide for parents and patients
The Growth Hormone Research Society

Referenced Articles

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