Transition from pediatrics to adult health care in girls with turner syndrome

ABSTRACT

Introduction

Turner Syndrome is a rare condition secondary to a complete or partial loss of one X chromosome, leading to a wide spectrum of clinical manifestations. Short stature, gonadal dysgenesis, cardiovascular malformations, and dysmorphic features characterize its common clinical picture.

Areas covered

The main endocrine challenges in adolescent girls with Turner Syndrome are puberty induction (closely intertwined with growth) and fertility preservation. We discuss the most important clinical aspects that should be faced when planning an appropriate and seamless transition for girls with Turner Syndrome.

Expert opinion

Adolescence is a complex time for girls and boys: the passage to young adulthood is characterized by changes in the social, emotional, and educational environment. Adolescence is the ideal time to encourage the development of independent self-care behaviors and to make the growing girl aware of her health, thus promoting healthy lifestyle behaviors. During adulthood, diet and exercise are of utmost importance to manage some of the common complications that can emerge with aging. All clinicians involved in the multidisciplinary team must consider that transition is more than hormone replacement therapy: transition in a modern Healthcare Provider is a proactive process, shared between pediatric and adult endocrinologists.

KEYWORDS:

• Turner syndrome
• transition
• puberty
• growth hormone
• fertility preservation

Article highlights

• All Referral Healthcare Providers for rare conditions must adopt a multidisciplinary group to offer the best-practice care to patients with Turner Syndrome. The group should include endocrinologists (both pediatric and adult physicians), relevant specialists (medical geneticists, cardiologists, psychologists, gynecologists, ENTs, and so on), and stakeholders (including patient’s association).

• Several concerns might emerge in all teenagers because adolescence is a complex time. The transition from pediatric to adult care should be seamless, with appropriate involvement of girls and caregivers, in order to avoid the risk of dropping-out.

• Growth should start in early infancy (6–8 years old) and must be completed before the transition; puberty should be induced at 11–12 years of age in those patients with amenorrhea, and hormonal replacement therapy should be continued until menopause.

• An appropriate fertility counseling should be offered: controlled ovarian stimulation and oocyte cryopreservation can increase the chance of pregnancy. An adequate cardiovascular assessment must be performed before pregnancy, since a high risk of complications.

• Several factors in patients with Turner Syndrome enhance cardiometabolic risk, increasing cardiovascular-related morbidity and mortality. Therefore, we suggest increasing the awareness to adopt a healthy lifestyle and to promote adherence to treatment and periodic follow-up during transition.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.