Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.

Abstract

Laron syndrome, also known as growth hormone insensitivity, is an autosomal recessive disorder characterised by short stature due to mutations or deletions in the growth hormone receptor (GHR), leading to congenital insulin-like growth factor 1 (IGF1) deficiency. Cardiac abnormalities, such as patent ductus arteriosus or peripheral vascular disease are rare in patients with Laron syndrome, but cardiac hypertrophy has been observed after IGF1 therapy. In this report, we present a 10-year-and-5-month-old girl with severe peripheral-type pulmonary artery hypoplasia and Laron syndrome related to homozygous GHR c.784>C mutation.

• Authors: Ayşehan Akinci, Cemşit Karakurt, Vivian Hwa, Ismail Dündar, Emine Çamtosun
• Journal: Cardiovascular journal of Africa (Cardiovasc J Afr) 2019 Mar/Apr 23 Vol. 30 Issue 2 Pg. e7-e8 ISSN: 1680-0745 [Electronic] South Africa
• PMID: 30720842 (Publication Type: Case Reports)

Chemical References

• Carrier Proteins
• somatotropin-binding protein

Topics

• Carrier Proteins (genetics)
• Child
• Female
• Genetic Predisposition to Disease
• Homozygote
• Humans
• Laron Syndrome (diagnosis, genetics)
• Mutation
• Phenotype
• Pulmonary Artery (abnormalities, diagnostic imaging, surgery)