Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

2007 ◽  
Vol 68 (5) ◽  
pp. 218-224 ◽  
Author(s):  
Vivian Hwa ◽  
Cecilia Camacho-Hübner ◽  
Brian M. Little ◽  
Alessia David ◽  
Lou A. Metherell ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Novel Mutation ◽  
Growth Hormone Insensitivity ◽  
Severe Short Stature ◽  
I Gene

scholarly journals X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene

2021 ◽  
Vol 30 (1) ◽  
pp. 61-64
Author(s):  
Fumika Kawano-Matsuda ◽  
Tomoki Maeda ◽  
Tadashi Kaname ◽  
Kumiko Yanagi ◽  
Kenji Ihara
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Novel Mutation ◽  
Severe Short Stature ◽  
I Gene

Specialty Drugs for the Treatment of Short Stature in Children—Pros, Cons, and Perspectives for the Future

2010 ◽  
Vol 06 (01) ◽  
pp. 78
Author(s):  
Michaela B Koontz ◽  
Leona Cuttler ◽  
◽  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Hormone Deficiency ◽  
Current Status ◽  
Current Evidence ◽  
Recombinant Human Insulin ◽  
Growth Hormone Insensitivity ◽  
Severe Short Stature

Specialty drugs are generally defined as medications that involve special drug handling and/or parenteral administration and are typically used to treat complex medical conditions. They are typically biologicals, often very expensive, and generally prescribed by specialists. The recent surge in use of specialty pharmaceuticals has placed these drugs in the spotlight as policy-makers struggle to contain healthcare costs. Specialty drugs are central to discussions about optimal ways to manage childhood short stature; recombinant human growth hormone (rhGH) and recombinant human insulin-like growth factor-1 (rhIGF-1)—specialty drugs with annual prices of $20,000 to $30,000 per child—are available to treat childhood short stature from specific causes. rhGH and rhIGF-1 revolutionized treatment of severe short stature resulting from growth hormone deficiency and growth hormone insensitivity, respectively. Over the past 20 years, use of rhGH has expanded to other conditions. Expanded use of the newer rhIGF-1 may occur in an analogous manner. This article reviews the background, current status, and potential for these drugs in view of current evidence and policies.

Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2

2019 ◽  
Author(s):  
Sumudu Seneviratne ◽  
Deepthi de Silva ◽  
Emily Cottrell ◽  
Piumi Kuruppu ◽  
KSH de Silva ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Therapy ◽  
Short Stature ◽  
Growth Hormone Therapy ◽  
Severe Short Stature

scholarly journals Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Nami Mohammadian Khonsari ◽  
Sahar Mohammad Poor Nami ◽  
Benyamin Hakak-Zargar ◽  
Tessa Voth
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Hormone Receptors ◽  
Bone Growth ◽  
Synergistic Effects ◽  
Signs And Symptoms ◽  
Bone Age ◽  
Pathogenic Mutation ◽  
Paracrine Factors ◽  
Severe Short Stature

Abstract Background Linear bone growth is achieved by the division of chondrocytes at the growth plate and is regulated by endocrine and paracrine factors such as growth hormone. Mutations that negatively affect chondrogenesis can be a contributor to short stature. One such mutation can occur in the ACAN gene, causing short stature and advanced bone age. Similarly, mutations in growth hormone receptors (GHR) can lead to Laron syndrome (LS), one of the several disorders that are collectively called growth hormone insensitivity syndrome (GHI). Another example is Floating-Harbor syndrome (FHS), a rare autosomal dominant due to mutations in the SRCAP gene that can also result in short stature. Case presentation We report the case of a 6-year-old female with concomitant mutations in the three genes mentioned above. The mutations reported here were found on genetic studies and are usually benign, causing a variant of undetermined significance. However, our patient’s phenotype could only be explained by the compounded effects of pathogenic mutations of these genes. Some of the same mutations were also found in the patient’s father and her paternal grandfather. Both also presented with short stature, though not to the same degree as our patient. While these mutations are often reported to be insignificant, they gave rise to severe short stature and a specific phenotype in the patient when presented together. We think that even though the GHI spectrum is inherited through an autosomal recessive pattern, the sum of these heterozygous mutations resulted in severe short stature despite the limited GHI seen in our patient, the father, and the grandfather, through a rare ACAN and SRCAP mutation that, to our knowledge, has not been previously reported as a pathogenic mutation in the literature. Conclusion We investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case.

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)

2020 ◽  
Vol 50 ◽  
pp. 61-70 ◽  
Author(s):  
Laura Ramírez ◽  
Nora Sanguineti ◽  
Paula Scaglia ◽  
Ana Keselman ◽  
María Gabriela Ballerini ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Growth Hormone Insensitivity

Evidence for partial growth hormone insensitivity among patients with idiopathic short stature

1995 ◽  
Vol 127 (2) ◽  
pp. 244-250 ◽  
Author(s):  
Kenneth M. Attie ◽  
Lena M.S. Carlsson ◽  
Amy Chen Rundle ◽  
Barry M. Sherman
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Idiopathic Short Stature ◽  
Growth Hormone Insensitivity
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