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Sex hormone replacement therapy for individuals with Turner syndrome
Author(s) -
Backeljauw Philippe,
Klein Karen
Publication year - 2019
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31685
Subject(s) - turner syndrome , estrogen , hormone replacement therapy (female to male) , endocrine system , medicine , sex steroid , hypergonadotropic hypogonadism , endocrinology , regimen , physiology , gynecology , pediatrics , hormone , testosterone (patch) , steroid
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.