Recombinant GH(Hamad General Hospital)

Growth hormone insensitivity syndrome (GHIS) is a rare genetic disorder characterized by short stature due to the body's inability to effectively utilize growth hormone (GH). This case report describes a patient with concurrent hypothyroidism and GHIS. This patient is an 11-year-old female presented with short stature; general examination suggested a prominent forehead and a depressed nasal bridge. Laboratory evaluations revealed elevated thyroid-stimulating hormone (TSH) levels alongside low levels of triiodothyronine (T3) and thyroxine (T4), indicating hypothyroidism. Additionally, elevated GH levels and significantly reduced insulin-like growth factor 1 (IGF-1) levels confirmed the diagnosis of GHIS. The patient was managed with thyroid hormone replacement therapy and recombinant GH. This dual therapeutic approach will lead to improvements in both thyroid function and growth parameters. This case underscores the importance of recognizing and addressing coexisting endocrine disorders in patients with GHIS to optimize their growth and developmental outcomes. Early diagnosis and a comprehensive treatment strategy are essential for managing such complex cases effectively.

Russell-Silver syndrome (RSS) is a rare genetic disorder characterized by intrauterine growth restriction (IUGR), postnatal growth failure, and distinctive dysmorphic features. We present a case of a four-year-old male presenting with a slow growth velocity with a history of IUGR and surgical interventions, exhibiting classic RSS features. Laboratory investigations revealed low insulin-like growth factor 1 (IGF-1) and low growth hormone (GH) levels on stimulation tests. Clinical exome sequencing revealed a de novo mutation in the insulin-like growth factor 2 (IGF2) gene. Additionally, a variant of uncertain significance in the DHX37 gene was noted in the patient and the asymptomatic father. After genetic counseling, recombinant GH therapy was initiated. This case underscores the genetic complexity of RSS and highlights the importance of early diagnosis, genetic testing, and multidisciplinary management in optimizing outcomes for patients with RSS.