The presence (or reported history) of pubarche (eg, pubic hair) alone in boys and girls is often falsely assumed to indicate onset of true central puberty, thus leading to a missed diagnosis of delayed puberty.
There is wide variation in the timing of the onset of puberty, yet the genetic factors that underlie this physiologic variation are not well understood.
Constitutional delay of growth and puberty is one of the most common diagnoses referred to the endocrinology clinic with delayed puberty. Despite being considered a normal variant, it often causes significant concern/anxiety in patients, families, and health care providers due to the stigma associated with short stature and delayed puberty. To this day, there remains a wide sex disparity in referrals for constitutional delay, with boys far overrepresented.
Girls with mosaic Turner syndrome with minimal or no dysmorphic features may not be identified until they present with delayed menarche.
Klinefelter...
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August 2022
