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Growth in a case of Russell-Silver syndrome treated for hypopituitarism
G Theintz1, L Alfonso Lopes, D Schorderet
1Department of Paediatrics and Genetics, University Canton Hospital, Geneva, Switzerland.
Insights
Russell-Silver syndrome (RSS) is linked to hypopituitarism, but growth hormone therapy may not improve final adult height. Careful evaluation of the hypothalamo-pituitary axis is crucial for affected children.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Russell-Silver syndrome (RSS) is characterized by prenatal dwarfism, delayed bone age, and normal postnatal height velocity.
- Hypopituitarism can occur in RSS, particularly following birth trauma.
- Evaluating endocrine function is essential in children with RSS.
Observation:
- A case of hypopituitarism in a girl with RSS following birth trauma is presented.
- Human growth hormone (hGH) therapy showed moderate IGF-I response and catch-up growth.
- Bone age advanced rapidly, exceeding chronological age, potentially enhanced by hGH therapy.
Findings:
- Growth hormone deficiency is not causally linked to RSS.
- hGH therapy in RSS patients may not significantly improve final adult height beyond typical RSS outcomes.
- Rapid bone age maturation is a notable feature in RSS, possibly influenced by hGH treatment.
Implications:
- hGH therapy should not be expected to significantly increase final adult height in RSS patients.
- Children with RSS exhibiting decreased height velocity, delayed bone age, or perinatal issues require thorough hypothalamo-pituitary axis evaluation.
- Prompt diagnosis and appropriate substitutive therapy are vital for managing hypopituitarism in RSS.
Abstract:
The growth characteristics of Russell-Silver syndrome (RSS) include dwarfism of prenatal onset, moderate retardation of bone age and normal postnatal height velocity. We describe a case of hypopituitarism in a girl with typical RSS who suffered from a severe trauma at birth. Signs of hypopituitarism appeared during childhood. Before substitutive treatment, a short course of human growth hormone (hGH) induced a moderate rise in plasma IGF-I levels which was within the range observed in other pituitary dwarfs. Under replacement therapy, catch-up growth was similar to what is observed in other growth hormone deficient children. However, bone age matured much faster than chronological age. This observation appears to be a particular feature of RSS, possibly enhanced by hGH therapy. An improvement of adult height beyond the final height usually observed in RSS children without endocrine disturbances should therefore not be expected from hGH therapy. Growth hormone deficiency and RSS do not appear to be causally related. However, in each child with RSS, a particular attention should be given to a decreased height velocity, a severely delayed bone age as well as a history of major perinatal problems. Should one of these factors be found, a careful evaluation of the hypothalamo-pituitary axis ought to be performed with, accordingly, an appropriate substitutive therapy.