Mild phenotype in two siblings with a missense GHR variant

J Pediatr Endocrinol Metab. 2021 Jul 1;34(10):1349-1354. doi: 10.1515/jpem-2021-0044. Print 2021 Oct 26.

Abstract

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.

Keywords: Laron syndrome; growth hormone receptor; variable clinical expressivity.

Publication types

  • Case Reports