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Society for Pediatric Radiology – Poster Archive
Final ID: Poster #: EDU-144
Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency
Purpose or Case Report: The objective of this poster is to expose the classical radiological signs associated to SHOX gene insufficiency, giving emphasis to those features that can be visualized in the hand and wrist.
Methods & Materials: Human growth is a multifactorial trait in which genetic factors play a crucial role in the individual’s final height and linear limb development. Short stature is defined as height that is more than 2 standard deviations below the mean for age and gender. It is one of the most common reasons for referral to paediatric endocrinologists, and a very important clue in its assessment is determining if it is disproportionate or not. SHOX gene haploinsufficiency (short stature homeobox), discovered in 1997, is an important cause of disproportionate short stature with a very varied fenotype, and has been found to be the molecular basis of the abnormal limb development and short stature seen in a number of diseases such as Turner syndrome and the discondrosteosis. Its clinical expression is more frequent and severe in women, and it tends to manifest and worsen during puberty, which is likely due to its complex interaction with estrogen at the level of the physis. The early recognition of its radiological manifestations can be very important to suggest the directed study of this patients and their siblings, some of which may benefit from therapy with GH.
Results:
Several constitutional osseous diseases (including over 100 skeletal dysplasias) are diagnosed postnatally. Most have familar history of short stature or minor skeletal malformations, and the moderate forms may be suspected only based upon mild disproportion of the osseous segments. The recommendations regarding the radiologic studies for short stature patients vary, but there is a general consensus that every child with a suspected disproportion should get a complete skeletal survey.
Conclusions:
SHOX gene abnormalities have proven to be the cause of short stature in several of this diseases. A lot of its radiological characteristics can be seen in the AP view of the hand indicated for bone age study, and recognition of these early features, sometimes very subtle, may be pivotal for the diagnosis.
Methods & Materials: Human growth is a multifactorial trait in which genetic factors play a crucial role in the individual’s final height and linear limb development. Short stature is defined as height that is more than 2 standard deviations below the mean for age and gender. It is one of the most common reasons for referral to paediatric endocrinologists, and a very important clue in its assessment is determining if it is disproportionate or not. SHOX gene haploinsufficiency (short stature homeobox), discovered in 1997, is an important cause of disproportionate short stature with a very varied fenotype, and has been found to be the molecular basis of the abnormal limb development and short stature seen in a number of diseases such as Turner syndrome and the discondrosteosis. Its clinical expression is more frequent and severe in women, and it tends to manifest and worsen during puberty, which is likely due to its complex interaction with estrogen at the level of the physis. The early recognition of its radiological manifestations can be very important to suggest the directed study of this patients and their siblings, some of which may benefit from therapy with GH.
Results:
Several constitutional osseous diseases (including over 100 skeletal dysplasias) are diagnosed postnatally. Most have familar history of short stature or minor skeletal malformations, and the moderate forms may be suspected only based upon mild disproportion of the osseous segments. The recommendations regarding the radiologic studies for short stature patients vary, but there is a general consensus that every child with a suspected disproportion should get a complete skeletal survey.
Conclusions:
SHOX gene abnormalities have proven to be the cause of short stature in several of this diseases. A lot of its radiological characteristics can be seen in the AP view of the hand indicated for bone age study, and recognition of these early features, sometimes very subtle, may be pivotal for the diagnosis.
More abstracts on this topic:
Poster____EDU-144.pdf
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