Current Recommended Estrogen Dosing for Pubertal Induction in Turner Syndrome Results in Normal Uterine Growth.

Context: Most individuals with Turner syndrome (TS) require estrogen for pubertal induction. Current estrogen dosing guidelines are based on expert consensus opinion.

Objective: Evaluate whether current international guidelines for estrogen dosing during pubertal induction of individuals with TS result in normal uterine growth.

Abnormal Uterine Bleeding during Pubertal Induction with Transdermal Estrogen in Individuals with Turner Syndrome.

Study Objective: Incidence of abnormal uterine bleeding (AUB) during pubertal induction among individuals with Turner syndrome (TS) has not been described previously. We estimated the incidence and characterized factors associated with AUB among individuals with TS. A secondary objective was to evaluate the management of AUB among this patient population.

Improving Anxiety Screening in Patients with Turner Syndrome.

Introduction: Turner syndrome (TS) results from a complete or partial loss of the X chromosome and affects 25-50 per 100,000 females. These individuals have characteristic neurocognitive and psychological profiles with an increased lifetime prevalence of mood disorders, such as depression and anxiety. Consensus guidelines recommend the use of psychometrically robust tools to screen for these conditions [Eur J Endocrinol.

Increased Prevalence of Beta-Cell Dysfunction despite Normal HbA1c in Youth and Young Adults with Turner Syndrome.

Introduction: Adult women with Turner syndrome (TS) have a high prevalence of diabetes and β-cell dysfunction that increases morbidity and mortality, but it is unknown if there is β-cell dysfunction present in youth with TS. This study aimed to determine the prevalence of β-cell dysfunction in youth with TS and the impact of traditional therapies on insulin sensitivity (SI) and insulin secretion.

Methods: Cross-sectional, observational study recruited 60 girls with TS and 60 healthy controls (HC) matched on pubertal status.

Age at and indication for diagnosis of Turner syndrome in the pediatric population.

Early diagnosis of Turner syndrome (TS) enables timely intervention and may improve outcomes, but many are still diagnosed late. The objectives of our study were to describe the age and clinical features leading to diagnosis of TS in a large referral center. We hypothesize that newer testing modalities, such as noninvasive prenatal testing (NIPT), may lead to a decline in the age of diagnosis.

Readiness for transition to adult care in adolescents and young adults with Turner syndrome.

Objectives Turner syndrome (TS) is a complex and chronic medical condition that requires lifelong subspecialty care. Effective transition preparation is needed for successful transfer from pediatric to adult care in order to avoid lapses in medical care, explore health issues such as fertility, and prepare caregivers as adolescents take over responsibility for their own care. The objective of this study was to evaluate accuracy of knowledge of personal medical history and screening guidelines in adolescents and young adults (AYA) with TS.

The Associations of Chronic Condition Type and Individual Characteristics With Transition Readiness.

Objective: Identifying differences in transition readiness according to chronic condition is essential for understanding whether special emphasis within specific populations is warranted. Youth with chronic conditions (type 1 diabetes, Turner syndrome, spina bifida, autism spectrum disorder [ASD]) representing various types of impairments were compared with youth without chronic conditions. It was hypothesized that differences would be observed according to condition type, with youth with cognitive/behavioral conditions showing less readiness than youth with other conditions and youth without chronic conditions showing the highest levels of transition readiness.