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Mild phenotype in two siblings with a missense GHR variant
Behiye Sarıkaya Özdemir1, Semra Çetinkaya1, Naz Güleray Lafcı2
1Pediatric Endocrinology Department, Dr. Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, University of Health Sciences Turkey, Ankara, Turkey.
Objectives:
Laron syndrome (LS) is a disease caused by growth hormone receptor (GHR) defects. It is characterized by severe postnatal growth retardation and distinctive facial features.
Case Presentation:
In this case report, we describe the clinical and biochemical characteristics of two siblings with LS, a sister and a brother, and identify a homozygous c.344A> C (p.Asn115Thr) variant in GHR. The sister was 11 years 9 months old with a height of 127.5 cm (-3.86 SDS), and the brother was 14 years 10 months old with a height of 139 cm (-4.27 SDS). Their phenotype did not have features suggesting classical LS.
Conclusion:
In the current literature, there are three cases with the same missense variant. Our cases differ from them in clinical (higher height SDS, mild dysmorphism including a broad forehead, malar hypoplasia, prominent columella and chin, thick lips) and biochemical characteristics. Here, we present the variable expressivity in the two siblings.
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