Genes on the X chromosome regulate the development and function of the ovaries, and because Turner syndrome (TS) results in a missing or altered X chromosome, most individuals with TS experience loss of ovarian function early in childhood.  In girls with two X chromosomes, the ovaries produce the hormone estrogen which stimulates puberty.  Therefore, a majority of girls with TS will not experience spontaneous puberty.

According to the Clinical Practical Guidelines  a lack of spontaneous pubertal development is one of the most common clinical features of TS. It is standard medical practice to prescribe estrogen to girls with TS to induce breast development and other features of puberty.  Up to 30% of girls will experience some pubertal development, and spontaneous pregnancies might occur in 2-5% of women with TS.  However, over 90% of individuals with TS will ultimately have gonadal failure.

Long term treatment with estrogen-progesterone will help girls and women with Turner syndrome maintain their secondary sexual development and to protect their bones from osteoporosis until the age of menopause.

Helpful Definitions

What is Gonadal Failure?

Definition of Gonadal Dysgenesis

Definition of Amenorrhea

Definition of Ovarian Hypofunction

What is the Follicle-stimulating hormone (FSH) blood test?

What is an estradiol blood test?

Sex hormone replacement in Turner syndrome 2012  – 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 …

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype:  longitudinal study of 70 Turner girls with or without spontaneous puberty   2010  – Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary –gonadal axis during infancy, childhood and …

Hormone Replacement and the Risk of Breast Cancer in Turner’s Syndrome – 2006 – Summary  – …long-term hormone-replacement therapy does not increase the risk of breast cancer in women with Turner’s syndrome. Additional factors, perhaps including ovarian cofactors, may be involved in the apparent increase in the risk of breast cancer associated with…

Evidence for early initiation of growth hormone and transdermal estradiol therapies in girls with Turner syndrome.  2006 – …these studies suggest that girls with TS should begin GH therapy as soon as growth failure is demonstrated and that puberty should be induced with transdermal or IM estradiol. Girls for whom height is normalized with GH therapy in early…

The Importance of Estrogen Replacement in Young Women with Turner Syndrome 2003 – Most girls with Turner syndrome (TS) need estrogen replacement treatment (ERT) to induce and maintain feminization and prevent osteoporosis. There is abundant information on ERT use in postmenopausal women, but there is little information on this issue in women with TS.

Estradiol levels in girls with Turner’s syndrome compared to normal prepubertal girls as determined by an ultrasensitive assay.  – 2003 Based on growing evidence that estradiol is produced in small amounts even in the prepubertal ovary, we hypothesized that estradiol levels in girls with Turner’s syndrome (TS) are lower than in normal prepubertal girls …

Optimizing Estrogen Replacement Treatment in Turner Syndrome  1998 – Estrogen has a biphasic effect on growth, stimulatory at low doses but inhibitory at higher doses. Therefore, designing optimal sex hormone replacement treatment in girls with Turner syndrome (TS) who are being treated with growth hormone (GH) involves …

Estrogen Replacement Therapy for Turner Syndrome  2014 ,- Like growth hormone, estrogen replacement therapy is a standard treatment for Turner syndrome (TS). The purpose of estrogen therapy is two-fold—to prompt the body into beginning puberty and to maintain healthy sexual development and functioning throughout adulthood.

Breast cancer risk low in women with Turner’s syndrome  2008 – Researchers at the U.K. Clinical Cytogenetics Group in Surrey, United Kingdom, developed a national cohort of 3,425 women diagnosed with Turner’s syndrome between 1959 and 2002. They followed the patients for cancer incidence for a mean 17 years per patient.

Understanding alternatives for estrogen preparations – 2009 Estrogen is one of the most commonly prescribed drugs used by both menopausal woman and young women with premature ovarian failure. Estrogen replacement therapy is prescribed to replace the three principal forms of estrogen found in the human female body: estrone, estradiol and estriol.