17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

Molecular Syndromology
Sofia Leka-EmiriStefanos Michalacos

Abstract

To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. We describe the first case of a young patient with a maternally inherited microduplication in 17p13.1 presenting with growth hormone deficiency. The boy was addressed to the endocrine division for growth retardation (weight and height <3rd percentile). Besides minor facial dysmorphisms, physical and neurological examinations were normal except for motor dyspraxia. Basic blood tests and endocrinological investigations were normal, but IGF1 levels were low for his age. Growth hormone deficiency was confirmed. Hypothalamic pituitary MRI was normal. His karyotype was 46XY. Array-CGH analysis detected a 422-kb copy number gain in the spanning region 17p13.1 inherited from his mother. Although familial short stature is considered a "normal" variation of growth retardation, hormonal and genetic investigation is essential in the etiological diagnosis.

References

Jan 30, 2010·Journal of Human Genetics·Yuta KomoikeToshiyuki Yamamoto
Aug 21, 2012·American Journal of Medical Genetics. Part a·Charles CouttonVéronique Satre
Oct 12, 2013·American Journal of Medical Genetics. Part a·Anya Blassnig-EzehDieter Kotzot
Mar 29, 2014·American Journal of Medical Genetics. Part a·Yukiko KurodaKenji Kurosawa
Aug 16, 2014·American Journal of Medical Genetics. Part a·Kathryn Anne MooneyhamMichael J Lyons
Jul 15, 2015·Archives of Disease in Childhood·P G MurrayP E Clayton
Nov 19, 2015·European Journal of Endocrinology·Jan M WitSarina G Kant

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Citations

Feb 26, 2020·International Journal of Molecular Sciences·Giuseppe BellastellaAnnamaria De Bellis

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