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Minerva Endocrinologica 2021 Jan 12

DOI: 10.23736/S0391-1977.20.03285-X


language: English

Pubertal induction in girls with Turner syndrome

Tommaso AVERSA , Domenico CORICA, Giorgia PEPE, Giovanni B. PAJNO, Mariella VALENZISE, Maria Francesca MESSINA, Malgorzata WASNIEWSKA

Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy


Turner syndrome (TS) is the most common female sex chromosome aneuploidy in females, and patients may present with hypergonadotropic hypogonadism due to gonadal dysgenesis. Timing and modalities of pubertal induction in these patients is still a matter of debate. Aim of this review is to focus on the latest update on pubertal induction in TS. Based on literature data, the following practical approach to this issue is recommended. Pubertal induction should begin between 11 and 12 years of age, starting with low doses of estradiol to preserve height potential. Transdermal 17β-Estradiol (17β-E2) could represent the first-choice induction regimen as it is more physiologic compared to an oral regimen and avoids the first-pass mechanism in the liver. In the case of poor compliance, administration of oral 17β-E2 or ethinyl estradiol could be offered. Incremental dose increases, approximately every 6 months, can contribute to mimic normal pubertal progression until adult dosing is reached over a 2- to 3- year period. Progestin should be added once breakthrough bleeding occurs or after 2 to 3 years of estrogen therapy or if ultrasound shows a mature uterus with thick endometrium. Treatment needs to be individualized and monitored by clinical assessment in relation to patient compliance and satisfaction. Well-designed prospective randomized clinical trials aimed to identify the best estrogen regimen for pubertal induction in TS girls are needed.

KEY WORDS: Estrogen; Hypogonadism; Puberty; Turner syndrome

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