Mild phenotype in two siblings with a missense GHR variant
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Behiye Sarıkaya Özdemir
,
Semra Çetinkaya
,
Naz Güleray Lafcı
,
Merve Şakar
,
Gülin Karacan Küçükali
,
Selin Elmaoğullari
und
Şenay Savaş Erdeve
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.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: Ethics committee approval is not required for this case report.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- Stretched penile length at birth: a systematic review
- Original Articles
- Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis
- Cardiometabolic risk factors in children and adolescents from southern Brazil: comparison to international reference values
- Association of antimullerian hormone with the size of the appendix testis, the androgen and estrogen receptors and their expression in the appendix testis, in congenital cryptorchidism
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- Changes in the presentation of newly diagnosed type 1 diabetes in children during the COVID-19 pandemic in a tertiary center in Southern Turkey
- Partial remission in children and adolescents with type 1 diabetes: an analysis based on the insulin dose-adjusted hemoglobin A1c
- Short Communication
- Anti-SARS-CoV-2 antibodies in new-onset type 1 diabetes in children during pandemic in Belgium
- Case Reports
- An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
- Auto-destruction of the thyroid gland and coexisting glutamic acid decarboxylase mediated neurological disease in an adolescent: an unusual presentation of autoimmunity
- Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report
- The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series
- Mild phenotype in two siblings with a missense GHR variant
Artikel in diesem Heft
- Frontmatter
- Review Article
- Stretched penile length at birth: a systematic review
- Original Articles
- Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis
- Cardiometabolic risk factors in children and adolescents from southern Brazil: comparison to international reference values
- Association of antimullerian hormone with the size of the appendix testis, the androgen and estrogen receptors and their expression in the appendix testis, in congenital cryptorchidism
- The utility of serum inhibin B, anti-Müllerian hormone and insulin growth factor-1 in predicting a positive response to GnRH analogs for diagnosing central precocious puberty in girls
- Growth response to growth hormone (GH) treatment in children with GH deficiency (GHD) and those with idiopathic short stature (ISS) based on their pretreatment insulin-like growth factor 1 (IGFI) levels and at diagnosis and IGFI increment on treatment
- Association of muscle mass and fat mass on low-density-lipoprotein cholesterol and triglyceride plasma concentration in children and adolescents
- The effect of sickle cell anemia on the linear growth of Nigerian children
- Size-adjustment techniques of lumbar spine dual energy X-ray absorptiometry measurements in assessing bone mineralization in children on maintenance hemodialysis
- Changes in the presentation of newly diagnosed type 1 diabetes in children during the COVID-19 pandemic in a tertiary center in Southern Turkey
- Partial remission in children and adolescents with type 1 diabetes: an analysis based on the insulin dose-adjusted hemoglobin A1c
- Short Communication
- Anti-SARS-CoV-2 antibodies in new-onset type 1 diabetes in children during pandemic in Belgium
- Case Reports
- An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia
- Auto-destruction of the thyroid gland and coexisting glutamic acid decarboxylase mediated neurological disease in an adolescent: an unusual presentation of autoimmunity
- Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report
- The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series
- Mild phenotype in two siblings with a missense GHR variant
