The changing face of Turner syndrome

CH Gravholt, M Viuff, J Just, K Sandahl… - Endocrine …, 2023 - academic.oup.com
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Turner syndrome: mechanisms and management

CH Gravholt, MH Viuff, S Brun, K Stochholm… - Nature Reviews …, 2019 - nature.com
Turner syndrome is a rare condition in women that is associated with either complete or
partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is …

Current best practice in the management of Turner syndrome

RK Shankar, PF Backeljauw - Therapeutic advances in …, 2018 - journals.sagepub.com
Turner syndrome (TS) is characterized by partial or complete loss of the second X-
chromosome in phenotypic females resulting in a constellation of clinical findings that may …

Turner syndrome: updating the paradigm of clinical care

JE Pinsker - The Journal of Clinical Endocrinology & …, 2012 - academic.oup.com
Context: Turner syndrome (TS), in which there is loss of all or part of one sex chromosome,
occurs in one in 2500 live-born females and is associated with characteristic findings …

Turner's syndrome in adulthood

M Elsheikh, DB Dunger, GS Conway… - Endocrine …, 2002 - academic.oup.com
Turner's syndrome is the most common chromosomal abnormality in females, affecting 1:
2,500 live female births. It is a result of absence of an X chromosome or the presence of a …

The Turner syndrome life course project: Karyotype‐phenotype analyses across the lifespan

A Cameron‐Pimblett, C La Rosa, TFJ King… - Clinical …, 2017 - Wiley Online Library
Introduction Turner syndrome (TS) is associated with a variety of morbidities affecting nearly
every body system, some of which increase in prevalence in adult life. The severity of clinical …

Approach to the patient with Turner syndrome

ML Davenport - The Journal of Clinical Endocrinology & …, 2010 - academic.oup.com
Turner syndrome (TS) occurs in about 1: 4000 live births and describes females with a broad
constellation of problems associated with loss of an entire sex chromosome or a portion of …

Epigenetics in Turner syndrome

F Álvarez-Nava, R Lanes - Clinical Epigenetics, 2018 - Springer
Background Monosomy of the X chromosome is the most frequent genetic abnormality in
human as it is present in approximately 2% of all conceptions, although 99% of these …

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment

X Cui, Y Cui, L Shi, J Luan, X Zhou… - Intractable & rare diseases …, 2018 - jstage.jst.go.jp
Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs
when the X chromosome is partially or completely missing in females. Its main clinical …

Clinical practice in Turner syndrome

CH Gravholt - Nature clinical practice Endocrinology & metabolism, 2005 - nature.com
Turner syndrome (TS) is a common genetic disorder, resulting from the partial or complete
absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn …