Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations.
We describe an 18-month-old boy with Costello syndrome (CS) with proven partial growth hormone (GH) deficiency and hypoglycemic episodes. The hypoglycemia is deemed to be due to cortisol deficiency. This report represents the second published case of cortisol deficiency in the CS. A brief review of the endocrine disturbances in the syndrome is provided. We highlight the need for careful endocrinological evaluation of individuals with CS.
Gregersen
Nerine
N
Division of Human Genetics, School of Pathology, National Health Laboratory Services, University of the Witwatersrand, Johannesburg, South Africa. nerine.gregersen@nhls.ac.za
Viljoen
Denis
D
D000015:Abnormalities, Multiple; D000367:Age Factors; D003348:Cortisone / Q000627:therapeutic use; D006128:Growth / Q000187:drug effects*; D006130:Growth Disorders / Q000150:complications / Q000151:congenital / Q000188:drug therapy* / Q000473:pathology; D013006:Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome
D013006:Growth Hormone; D003348:Cortisone