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Turner Syndrome

open access: yesEndocrines, 2022
Turner syndrome (TS) affects approximately 1 out of every 1500–2500 live female births, with clinical features including short stature, premature ovarian failure, dysmorphic features and other endocrine, skeletal, cardiovascular, renal, gastrointestinal ...
Ethel Gonzales Clemente   +4 more
doaj   +4 more sources

Turner Syndrome: Phenotypic Variability of Chromosomal Polymorphism

open access: yesZdorovʹe Rebenka, 2015
Turner syndrome was firstly described by N. Shereshevskyi in 1925, and then by H. Turner in 1938. In 1959, Ch. Ford found that in patients with this syndrome one X chromosome is absent.
M.O. Ryznychuk, V.P. Pishak
doaj   +2 more sources

Turner syndrome with primary hyperparathyroidism [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2013
Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old
Jungmee Park   +6 more
doaj   +2 more sources

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

open access: yesOrphanet Journal of Rare Diseases
Background Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive approach to healthcare and research ...
Sara Mansoorshahi   +3 more
doaj   +2 more sources

Familial Turner syndrome

open access: yesClinical Genetics, 1992
A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries.
Speleman, Franki   +9 more
core   +3 more sources

Turner′s syndrome presenting as metabolic bone disease

open access: yesIndian Journal of Endocrinology and Metabolism, 2012
Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal.
Sadishkumar Kamalanathan   +3 more
doaj   +2 more sources

Craniofacial growth and development of Turner syndrome children

open access: yesPadjadjaran Journal of Dentistry, 2009
Turner syndrome is a genetic disorder which characterized by specific physical appearance and the lost of one of sex chromosome in females. The most frequent chromosome constitution in Turner syndrome is 45X.
Inne Suherna Sasmita   +2 more
doaj   +3 more sources

Mosaic Form of Turner Syndrome

open access: yesIndonesian Journal of Obstetrics and Gynecology
Objective: To report a case of breast growth disorder in a mosaic form of Turner Syndrome. Turner syndrome is a chromosomal condition characterized by small height and primary ovarian insufficiency that affects one in every 2500 female births.
Abdurahman Laqif   +4 more
doaj   +3 more sources

A 13-year-old female with Turner syndrome and achalasia

open access: yesThe Turkish Journal of Pediatrics, 2006
The most common gastrointestinal problems associated with Turner syndrome are intestinal telangiectasia, colon carcinomas, inflammatory bowel, and liver diseases. In this paper we present for the first time a 13-year-old female with 45,X karyotype
Sevim Balci   +4 more
doaj   +3 more sources

Health behavior of women with Turner Syndrome.

open access: yes, 2021
AIM This study assessed lifestyle-related risk factors for cardiovascular disease in young women with Turner Syndrome. METHODS In 2012, we sent a questionnaire to women with Turner Syndrome aged ≥18 years and living in Switzerland with questions
Sommer, Grit   +11 more
core   +2 more sources

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