Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

TitleShort stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Publication TypeJournal Article
Year of Publication2020
AuthorsFranciskovich, R, Soler-Alfonso, C, Neira-Fresneda, J, Lupski, JR, McCann-Crosby, B, Potocki, L
JournalAm J Med Genet A
Date Published2020 Jul 13
ISSN1552-4833
Abstract

Potocki-Lupski Syndrome (PTLS, MIM 610883), or duplication of chromosome 17p11.2, is a clinically recognizable condition characterized by infantile hypotonia, failure to thrive, developmental delay, intellectual disability, and congenital anomalies. Short stature, classified as greater than two standard deviations below the mean, has not previously been considered a major feature of PTLS. Retrospective chart review on a cohort of 37 individuals with PTLS was performed to investigate the etiology of short stature. Relevant data included anthropometric measurements, insulin growth factor-1 (IGF-1), insulin-like growth factor binding protein 3 (IGFBP-3), growth hormone (GH) stimulation testing, blood glucose levels, brain MRI, and bone age. Approximately 25% (9/37) of individuals with PTLS had short stature. Growth hormone deficiency (GHD) was definitively identified in two individuals. These two PTLS patients with growth hormone deficiency, as well as three others with short stature and no documented GHD, received growth hormone and obtained improvement in linear growth. One individual was identified to have pituitary abnormalities on MRI and had complications of hypoglycemia due to unrecognized GHD. Individuals with PTLS can benefit from undergoing evaluation for GHD should they present with short stature or hypoglycemia. Early identification of GHD could facilitate potential therapeutic benefit for individuals with PTLS, including linear growth, musculoskeletal, and in cases of hypoglycemia, potentially cognitive development as well.

DOI10.1002/ajmg.a.61741
Alternate JournalAm. J. Med. Genet. A
PubMed ID32656927
Grant ListR35 NS105078 / NS / NINDS NIH HHS / United States
UM1HG006542 / HG / NHGRI NIH HHS / United States
K08 HD01149 / / National Institute of Child Health and Human Development /
U54HD083092 / / National Institute of Child Health and Human Development /