Russell-Silver Syndrome With Growth Hormone Deficiency

• Published in: Curēus (Palo Alto, CA) Vol. 16; no. 5; p. e60018
• Main Authors: Boro, Hiya, Patra, Shinjan, Pasam, Kiran Kumar, Dalvi, Mazhar, Bundela, Vikash
• Format: Journal Article
• Language: English
• Published: United States Cureus Inc 10-05-2024; Cureus
• Subjects: Asymmetry; Asymptomatic; Case reports; Children & youth; Chromosomes; Endocrinology/Diabetes/Metabolism; Fetal alcohol syndrome; Genetic counseling; Genetic testing; Genetics; Gestational age; Growth hormones; Hypoglycemia; Insulin; Insulin-like growth factors; Microcephaly; Mutation; Pediatrics; clinodactyly; growth hormone stimulation test; russell-silver syndrome; insulin-like growth factor 1; insulin-like growth factor ii; growth hormone deficiency; growth hormone therapy
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.60018

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
gene. Additionally, a variant of uncertain significance in the
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.