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).
«A Window of opportunity»