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Laron Syndrome (Growth Hormone Insensitivity, IGF-1 Deficiency)

An autosomal recessive disorder caused by mutations in the growth hormone receptor (GHR) gene leading to severe postnatal growth failure with high circulating growth hormone but very low IGF-1 levels.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

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What is Laron Syndrome (Growth Hormone Insensitivity, IGF-1 Deficiency)?

Laron syndrome is a rare autosomal recessive form of severe primary insulin-like growth factor 1 deficiency caused by loss-of-function mutations or deletions of the growth hormone receptor (GHR) gene on chromosome 5p13, resulting in functional resistance of peripheral tissues to growth hormone.

Despite normal or markedly elevated serum growth hormone, hepatic IGF-1 production is severely impaired and serum IGF-1 and IGFBP-3 are very low, producing extreme postnatal growth failure with adult heights typically below minus 4 to minus 9 standard deviations from the mean and characteristic facial dysmorphism (frontal bossing, saddle nose, blue sclerae).

Patients have a remarkably reduced incidence of type 2 diabetes and certain cancers despite obesity and dyslipidemia; treatment is daily or twice-daily subcutaneous recombinant human IGF-1 (mecasermin), which improves growth velocity and final adult height when started in early childhood under specialist supervision.

Symptoms

Severe postnatal growth failure with proportionate short stature appearing within the first year of life
Distinctive facial appearance: frontal bossing, depressed nasal bridge, blue sclerae, sparse hair, and small face relative to skull
Recurrent fasting hypoglycemia, especially in infancy and childhood
Truncal obesity with reduced muscle mass and delayed motor milestones
Small genitalia, micropenis, and delayed puberty in some patients
High-pitched voice and small hands and feet

Risk Factors

Consanguineous parents or family history of severe short stature
Specific founder populations such as Sephardic Jewish, Ecuadorian, and Mediterranean ancestry
Affected sibling with confirmed GHR mutation
Severe IGF-1 deficiency on screening of children with extreme short stature

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Pediatric endocrinology referral for any child with height below minus 3 SD plus low serum IGF-1 and high growth hormone
  • Recurrent fasting hypoglycemia in an infant with growth failure and characteristic facial features
  • Family history of an unequivocally affected sibling — early genetic evaluation is recommended
  • Failure to respond to a standard course of recombinant growth hormone therapy in a child with short stature

Treatment Methods

01
Daily subcutaneous recombinant human IGF-1 (mecasermin), usually twice daily with meals to reduce hypoglycemia risk, with dose titration based on growth response and side effects
02
Strict feeding schedule and parental education to prevent insulin-like hypoglycemia after IGF-1 injections
03
Multidisciplinary follow-up by pediatric endocrinology, dietetics, and genetics — with periodic measurement of IGF-1, IGFBP-3, glucose, and growth velocity
04
Genetic counseling for the family with offer of carrier testing and prenatal diagnosis where applicable
05
Surveillance for known complications of long-term mecasermin therapy: tonsillar hypertrophy, papilledema, slipped capital femoral epiphysis, and lipohypertrophy at injection sites

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You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.