Smith-Magenis syndrome and growth hormone deficiency.
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome including physical and neurobehavioural features. The disease is commonly associated with a ca. 3.7 Mb interstitial deletion of chromosome 17p11.2, while a 1.1 Mb critical region has been identified, containing about 20 genes expressed in multiple tissues. Haploinsufficiency of one of them, RAI1, seems to be responsible for the neurobehavioural, craniofacial and otolaryngological features of the syndrome, but not for short stature, commonly seen in SMS patients with chromosome deletion, implying the role of other genes in the 17p11.2 region. Growth failure is a final result of several different mechanisms involving decreased growth hormone (GH) production, reduced tissue response to GH, or impaired activity of epistatic factors. To our knowledge, the association of GH deficiency with SMS has never been reported and rarely investigated, despite the very short stature of SMS patients. We describe a girl with a full SMS phenotype and a typical 3.7 Mb deletion of 17p11.2 who also has GH deficiency. After starting replacement therapy, growth has significantly improved, her stature being now above both the 10th percentile and her genetic target.


CONCLUSIONS
we suggest that an investigation of both growth hormone secretion and function is carried out in patients with Smith-Magenis syndrome and 17p11.2 deletion.
Spadoni
Emanuela
E
Biologia Generale e Genetica Medica, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy.
Colapietro
Patrizia
P
Bozzola
Mauro
M
Marseglia
Gian L
GL
Repossi
Luciana
L
Danesino
Cesare
C
Larizza
Lidia
L
Maraschio
Paola
P
D000015:Abnormalities, Multiple / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D013006:Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D010641:Phenotype; D013577:Syndrome; D016896:Treatment Outcome
D013006:Growth Hormone