• 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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