Turner syndrome (TS) occurs in approximately 1:2000 – 1:2500 live-born female infants. The diagnosis is based on a total or partial absence of an X chromosome. Besides the characteristic phenotype, TS is associated with multiple conditions. Leading symptoms in this syndrome are short stature and ovarian dysgenesis leading to infertility in most cases. Particular attention should be paid to congenital heart defects, which affect approximately 20–50% of girls and women with TS and are directly related to an increased mortality in this patient group. Additionally, there is an increased risk of autoimmune diseases, such as autoimmune thyroiditis and coeliac disease. The other disturbances are kidneys abnormalities, recurrent otitis leading to conductive hearing loss, vision problems, and mental health issues.
Healthcare of patients with TS requires a multidisciplinary approach with a team consisting of endocrinologists, gynecologists, cardiologists, otolaryngologists, ophthalmologists, nephrologists, and psychologists. Most of the medical problems developed during childhood require further monitoring in adult life, with most patients requiring hormonal replacement therapy to maintain satisfactory sex development and bone health.
With this is in, issues typical for adulthood, such as infertility, should be taken into the consideration much earlier in life in order to prepare the TS patient for further consequences. Current studies suggest an opportunity for fertility preservation in patients with sufficient ovarian reserve, however eligibility for the procedure is still not established. Preparation for eventual pregnancy consists of proper estrogen dosage, cardiac monitoring, and mental consultancy in adolescence.
This Research Topic will focus on expanding our understanding of the transition period of TS from pediatric to adult healthcare, in particular as it relates to potential future fertility. The process of transition from pediatric to adult healthcare should be continuous and physicians should collaborate to provide patients with consistent further recommendations. However, there is currently insufficient data and support for this.
We welcome original research, methods, perspectives, reviews, mini reviews, and systematic reviews focused on the transitional care of TS in pediatric patients to adult healthcare. We will primarily focus on issues of fertility, fertility preservation, and ovarian reserve markers, but are also interested in the following subtopics:
• Fertility preservation
• Ovarian reserve markers
• Puberty induction
• Cardiac screening
• Heart defects
• Metabolic disorders
• Hypertension
• Hormonal replacement therapy
• Preparation for pregnancy
• Transition readiness
• Motherhood willingness
• Quality of life
Turner syndrome (TS) occurs in approximately 1:2000 – 1:2500 live-born female infants. The diagnosis is based on a total or partial absence of an X chromosome. Besides the characteristic phenotype, TS is associated with multiple conditions. Leading symptoms in this syndrome are short stature and ovarian dysgenesis leading to infertility in most cases. Particular attention should be paid to congenital heart defects, which affect approximately 20–50% of girls and women with TS and are directly related to an increased mortality in this patient group. Additionally, there is an increased risk of autoimmune diseases, such as autoimmune thyroiditis and coeliac disease. The other disturbances are kidneys abnormalities, recurrent otitis leading to conductive hearing loss, vision problems, and mental health issues.
Healthcare of patients with TS requires a multidisciplinary approach with a team consisting of endocrinologists, gynecologists, cardiologists, otolaryngologists, ophthalmologists, nephrologists, and psychologists. Most of the medical problems developed during childhood require further monitoring in adult life, with most patients requiring hormonal replacement therapy to maintain satisfactory sex development and bone health.
With this is in, issues typical for adulthood, such as infertility, should be taken into the consideration much earlier in life in order to prepare the TS patient for further consequences. Current studies suggest an opportunity for fertility preservation in patients with sufficient ovarian reserve, however eligibility for the procedure is still not established. Preparation for eventual pregnancy consists of proper estrogen dosage, cardiac monitoring, and mental consultancy in adolescence.
This Research Topic will focus on expanding our understanding of the transition period of TS from pediatric to adult healthcare, in particular as it relates to potential future fertility. The process of transition from pediatric to adult healthcare should be continuous and physicians should collaborate to provide patients with consistent further recommendations. However, there is currently insufficient data and support for this.
We welcome original research, methods, perspectives, reviews, mini reviews, and systematic reviews focused on the transitional care of TS in pediatric patients to adult healthcare. We will primarily focus on issues of fertility, fertility preservation, and ovarian reserve markers, but are also interested in the following subtopics:
• Fertility preservation
• Ovarian reserve markers
• Puberty induction
• Cardiac screening
• Heart defects
• Metabolic disorders
• Hypertension
• Hormonal replacement therapy
• Preparation for pregnancy
• Transition readiness
• Motherhood willingness
• Quality of life
