Sex hormone replacement in Turner syndrome

Abstract

The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects of estrogen and androgen insufficiency as well as the effects of sex HRT on morbidity and mortality with special emphasis on evidence based research and areas needing further studies.

Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome

“…Although several reports have mentioned the efficacy of ERT in increasing UL or BMD [4,5,6] few studies have addressed its effects on both uterine growth and bone maturation in a single study, in adolescents with TS [7,8]. Our results demonstrate that ERT is effective in increasing both UL and BMD in adult TS patients with PA.…”

Acne Tarda and Male-Pattern Baldness Unmasking Primary Ovarian Insufficiency: A Case and Review

“…In several studies POI has been described in patients with Turner syndrome (45,X or mosaic 45,X/46,XX), trisomy or polysomy X, macrodeletions p or Xq and autosomal or X translocations [11,12,13,14]. Mutations have been described in several genes, however no mutation accounts for several cases and clinical management of POI does not depend on the presence of a specific mutation [15,16].…”

Chromosomal Abnormalities and Menstrual Cycle Disorders

“…The definite cause of the accelerated apoptosis is unknown. Two genes on the X chromosome are clearly implicated in premature ovarian insufficiency: bone morphogenetic protein 15 (BMP15) and fragile X mental retardation 1 (FMR1) [5,11,12]. Additional genes on the X chromosome have been implicated, however, but not proven, to have a role in ovarian failure specifically in females with 45,X.…”