2019/02/26 by Philippe Backeljauw, Karen O. Klein · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Sexual Differentiation and Disorders #Sperm and Testicular Function
paper · doi:10.1002/ajmg.c.31685
openalex publication_date 2019/02/26 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
Turner syndrome is a relatively common genetic condition resulting from absence of all or part of the second sex chromosome. Individuals with Turner syndrome commonly exhibit cardiovascular, endocrine, renal, reproductive, and/or psychosocial abnormalities, among other conditions. Most girls with Turner syndrome have hypergonadotropic hypogonadism and therefore need sex steroid hormonal replacement therapy. The optimal estrogen replacement treatment regimen to induce pubertal development is still being determined. The goals of the estrogen replacement are to mimic the normal physical and social development for timing and progression of puberty. Treatment should begin at 11-12 years of age, with dose increases every 6 months over a 2-3 year period. Initiation with low doses of estrogen is crucial to preserve growth potential. On the other hand, delaying estrogen replacement may be deleterious to bone and uterine health.