[Skip to Navigation]
February 1986

Russell-Silver Syndrome and Hypopituitarism: Patient Report and Literature Review

Author Affiliations

From the Divisions of Genetics (Drs Cassidy and Blonder and Ms Courtney) and Endocrinology (Drs Ratzan and Carey), University of Connecticut Health Center, Farmington; and the Department of Pediatrics, Newington (Conn) Children's Hospital (Drs Cassidy, Blonder, Ratzan, and Carey and Ms Courtney).

Am J Dis Child. 1986;140(2):155-159. doi:10.1001/archpedi.1986.02140160073037

• Russell-Silver syndrome (RSS) is a sporadic form of prenatal onset dwarfism with typical facial features, variable asymmetry, and linear growth 3 to 4 SDs below the mean. Endocrinologic studies are usually normal; however, six cases of RSS with growth hormone deficiency have been reported, three of which had additional pituitary abnormalities. We describe another case, a 7-year-old girl with RSS and deficiencies of growth hormone, corticotropin, and thyroid-stimulating hormone. Replacement therapy including growth hormone resulted in an improved growth velocity, though twice the usual dose of growth hormone was required and short stature persisted. Since growth hormone secretion is usually normal in RSS, the existence of individuals with RSS phenotype and hypopituitarism including growth hormone deficiency suggests etiologic heterogeneity. We recommend that those individuals with RSS phenotype and a continuous significant decline in height velocity be investigated for pituitary abnormalities. Unusually high replacement doses of growth hormone may be required to overcome deficiency.

(AJDC 1986;140:155-159)