AACE MENA 2025-Turner's Syndrome Across the Lifespan

Video Transcription

Video Summary

The speaker outlines Turner syndrome as a sex chromosome disorder affecting phenotypic females, caused by complete or partial loss of a second X chromosome. They review its history, prevalence (about 1 in 2,000–2,500 female births), and emphasize that diagnosis is often missed. Karyotyping remains the gold standard, with newer sequencing improving mosaicism detection. Case examples illustrate prenatal detection (cystic hygroma, coarctation), childhood short stature, and delayed/absent puberty or amenorrhea. Key endocrine management includes early, relatively high-dose growth hormone and carefully titrated estrogen replacement for puberty induction, with later progesterone and monitoring of growth, uterine development, and bone density. The talk stresses lifelong multidisciplinary care, especially cardiovascular surveillance due to common congenital defects and high rates of hypertension and aortic disease, which critically impact pregnancy safety. Transition planning to adult care and fertility counseling (using AMH to assess ovarian reserve) are highlighted, noting limited success of fertility preservation and significant maternal risks. New diagnostic and potential future therapies are briefly noted.

Keywords

Turner syndrome

X chromosome monosomy and mosaicism

Karyotyping and genetic sequencing diagnosis

Growth hormone therapy for short stature

Estrogen replacement and puberty induction

Cardiovascular surveillance and pregnancy risk