A Case with Laron Syndrome
Journal Title: Bezmiâlem Science - Year 2019, Vol 7, Issue 3
Abstract
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-I (IGF-I) levels. Several different genetic mutations have been documented up to date. In this article, a patient with LS is reported. A 2-year-old female patient was admitted to the hospital with the complaint of short stature. Her height and weight was 71.7 cm [<3 p., -4.09 standard deviations (SDS)] and 9.7 kg (<3 p., -2.2 SDS) respectively. She had dysmorphic features such as maxillary hypoplasia, blue sclera, small hands and feet, and extreme proportionate shortness. She had a high basal serum GH level (61.879 ng/mL), whereas serum IGF-I (<10 ng/mL) and IGFbinding protein 3 (<0.54 ng/mL) concentrations were significantly low. Both clinical and laboratory measurements were consistent with LS. A missense variation leading to a stop codon (W182X) was determined in GH receptor gene. Recombinant IGF-I therapy improved height z-score from -4.09 to -3.4 SDS after 24-month treatment. In this report, we presented a case with LS. The description of a mutation in a specific region may be helpful in defining the genetic pattern of other patients with LS and in determining whether it is a mutation with a founder effect that is unique in the Turkish population.
Authors and Affiliations
İlker Tolga ÖZGEN, Esra KUTLU, Yaşar CESUR, Gözde YEŞİL
Keywords
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- EP ID EP50756
- DOI 10.14235/bas.galenos.2018.2385
- Views 247
- Downloads 0
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