Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries
Küçük Resim Yok
Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Clinics Cardive Publ Pty Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Laron syndrome, hypoplasia, pulmonary arteries
Kaynak
Cardiovascular Journal of Africa
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
30
Sayı
2
