Síndrome da deleção do cromossomo 18q associada à deficiência de hormônio de crescimento

Abstract

INTRODUCTION: The 18q Chromosome Deletion Syndrome is caused by the deletion of the long arm of chromosome 18, and its phenotype is widely variable, with associated short stature. CASE REPORT: preschooler, female, presented congenital cardiomyopathy, recurrent wheezing, clubfoot, and typical 18q deletion syndrome characteristics, confirmed by chromosomal analysis, depicting chromosomes 18 long arm deletion (46, XX, del (18) (q23)). She manifested severe short stature (initial stature Z score - 4,62) due to growth hormone deficiency, which improved after growth hormone treatment (current stature Z score -2,51). DISCUSSION: untreated comorbidities such as congenital cardiomyopathy, orthopedic abnormalities, and steroid usage notably decrease final stature in patients affected by genetic syndromes. However, associated growth hormone deficiency must be investigated and treated to improve stature. CONCLUSION: in 18q23 deletion syndrome, early growth hormone deficiency treatment and comorbidities management increase the patients final height memorably.

Keywords

• chromosome deletion
• human growth hormone
• chromosomes human pair 18