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«A Window of opportunity»

As clinicians we are trained to observe clinical
cues and develop differential diagnoses. Often
we are inclined to consider the most likely
possibilities, yet for patients with rare disorders,
this can result in lengtty delays in
diagnosis. Indeed, patients with rare diseased
are often initially misdiagnosed and have
delays in obtaining an accurate diagnosis1).
Misdiagnosis and delays in reaching a correct
diagnosis can have significant repercussions
on quality of life and can erode confidence in
the health system. Recently, there has been
growing attention to early life determinants of
health and disease. This article provides a
brief overview of how phenotypes in male
neonates male can provide important clues
that provide a neonatal window of opportunity
for making and early diagnosis of disorders
of puberty and reproduction later in life2).

Informations complémentaires

A. Dwyer