2 Growth Hormone Insensitivity Syndrome

Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report

INTRODUCTION Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormon...

DRUG EVALUATION Mecasermin rinfabate for severe insulin-like growth factor-I deficiency

10.2217/14750708.4.2.133 © 2 Recombinant human insulin-like growth factor (rhIGF)-I has been shown to increase growth velocity in children with IGF-I deficiency, either as a result of growth hormoneinsensitivity syndrome or IGF-I gene deletion (one case study). There have been adverse events, particularly hypoglycemia, reported with administration of unbound rhIGF-I. In addition, the serum half...

Complete Androgen Insensitivity Syndrome in Three Sisters

[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].

A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to ...

A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I.

Growth hormone insensitivity syndrome (GHIS), a genetic disease characterized by growth retardation combined with high serum concentration of growth hormone (GH) and low insulin-like growth factor 1 (IGF-1) levels, can be caused by mutations in the GH receptor (GHR) gene. We investigated the molecular defects in the GHR gene in a patient with neurofibromatosis type 1 (NF-1). The patient, a 2-ye...