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Laparoscopic Anterior Right Hepatectomy: A Single-Center Experience
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Published on: December 4, 2023

Laron syndrome. First report from Greece.

Assimina Galli-Tsinopoulou1, Sanda Nousia-Arvanitakis, Ioannis Tsinopoulos

  • 1Fourth Pediatric Department, Aristotle University of Thessaloniki, Thessaloniki, Greece. galtsin@otenet.gr

Hormones (Athens, Greece)
|September 28, 2006
PubMed
Summary

Laron syndrome, a rare genetic disorder, causes severe growth failure due to growth hormone receptor mutations. Insulin-like growth factor-I therapy effectively improved growth in a Greek infant with this condition.

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Published on: December 4, 2023

Area of Science:

  • Pediatrics
  • Genetics
  • Endocrinology

Background:

  • Laron-type dwarfism is an autosomal recessive disorder characterized by high growth hormone (GH) and low insulin-like growth factor I (IGF-I) levels.
  • Patients exhibit resistance to GH, leading to severe growth retardation, obesity, and hypoglycemia.
  • Recombinant human insulin-like growth factor-I (rhIGF-I) therapy is an effective treatment for accelerating linear growth.

Purpose of the Study:

  • To describe a case of Laron syndrome in a 2-year-old Greek girl.
  • To highlight the diagnostic features and treatment response in this patient.
  • To report a novel heterozygous mutation in the GH receptor gene.

Main Methods:

  • Clinical evaluation of a 2-year-old girl with postnatal growth failure and hypoglycemic seizures.
  • Hormonal assays including GH and IGF-I levels during a glucagon stimulation test.
  • Molecular analysis of the growth hormone receptor gene.
  • Assessment of growth velocity before and after IGF-I administration.

Main Results:

  • The patient presented with high GH and very low IGF-I levels, unresponsive to GH administration.
  • IGF-I therapy significantly improved growth velocity.
  • A heterozygous mutation in exon 4 of the GH receptor gene was identified, inherited from the mother.

Conclusions:

  • This case represents the first report of Laron syndrome in Greece.
  • The findings underscore the efficacy of IGF-I therapy in managing Laron syndrome.
  • The identified heterozygous mutation presents a unique genetic finding in the context of the patient's and mother's clinical presentation.