A Case with Laron Syndrome

Özgen, İlker; ÖZGEN, İLKER; Kutlu, Esra; Kutlu, Esra; CESUR, Yaşar; Cesur, Yaşar; Yesil, Gözde; Yesil, Gözde

doi:10.14235/bas.galenos.2018.2385

A Case with Laron Syndrome

Özgen İ. T., ÖZGEN İ. T., Kutlu E., Kutlu E., CESUR Y., Cesur Y., ...Daha Fazla

BEZMIALEM SCIENCE, cilt.7, sa.3, ss.251-254, 2019 (ESCI, Scopus, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 7 Sayı: 3
Basım Tarihi: 2019
Doi Numarası: 10.14235/bas.galenos.2018.2385
Dergi Adı: BEZMIALEM SCIENCE
Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.251-254
İstanbul Üniversitesi Adresli: Hayır

Özet

Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial abnormalities, high serum GH and low insulin-like growth factor-1 (IGF-I) levels. Several different genetic mutations have been documented up to date. In this article, a patient with LS is reported.