Turner Syndrome where are we?

N Khan, A Farooqui, R Ishrat - Orphanet Journal of Rare Diseases, 2024 - Springer
Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females,
leading to a range of complications such as short stature, cardiovascular issues …

Liver abnormalities in Turner syndrome: the importance of estrogen replacement

I Fedor, E Zold, Z Barta - Journal of the Endocrine Society, 2022 - academic.oup.com
Turner syndrome is one of the most frequently reported sex chromosomal abnormalities,
affecting approximately 40 in every 100 000 live female births. The underlying chromosomal …

Cytogenetic study of patients with primary amenorrhea in the northeast of Iran

N Soltani, F Mirzaei… - Iranian Journal of …, 2020 - pmc.ncbi.nlm.nih.gov
Background & Objective: Primary amenorrhea refers to the absence of menstruation in
females of reproductive by age 16 when the development of secondary sexual …

Childhood growth hormone treatment in women with Turner syndrome-benefits and adverse effects

T Irzyniec, W Jeż, K Lepska, I Maciejewska-Paszek… - Scientific Reports, 2019 - nature.com
Turner syndrome (TS) is characterized by the partial or complete loss of one sex
chromosome and results in growth failure, gonadal insufficiency and cardiac anomalies …

New insights into clinical features, karyotypes, and age at diagnosis in women with Turner syndrome

J Frelich, T Irzyniec, K Lepska… - Endokrynologia …, 2019 - journals.viamedica.pl
Introduction: Turner syndrome (TS) is due to a chromosomal abnormality in which only one
normal X chromosome is present. The purpose of the study was the assessment the …

[HTML][HTML] Visual Impairment in Women with Turner Syndrome—A 49-Year Literature Review

E Soszka-Przepiera, M Krzyścin… - Journal of Clinical …, 2024 - mdpi.com
Aim: Among the severe organ complications occurring in patients with Turner syndrome
(TS), ophthalmic dysmorphia and visual impairment are usually marginalized. There are …

The speech and language profile of a child with turner syndrome–a case study

I Bogavac, L Jeličić, V Nenadović… - Clinical Linguistics & …, 2022 - Taylor & Francis
Background Turner syndrome is a genetic disorder that affects only females. It has specific
cognitive characteristics, but speech and language data are scarce. Methods and …

Higher CNV frequencies in chromosome 14 of girls with Turner syndrome phenotype

N Purwar, P Tiwari, N Mathur, H Sharma… - The Journal of …, 2021 - academic.oup.com
Context Precise genotype-phenotype correlations in Turner syndrome (TS) have not yet
been deciphered. The chromosomal basis of the clinical TS phenotype in the absence of X …

[HTML][HTML] Genetic investigation of 261 cases of Turner syndrome patients referred to the genetic clinic

D Farhud, R Asgarian, A Seifalian… - Iranian Journal of …, 2021 - ncbi.nlm.nih.gov
Background: Turner syndrome (TS), also known as 45, X, is a genetic disorder caused by
the partial or complete lack of an X chromosome. TS can cause a variety of medical and …

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

MR Nunes, TG Pereira, HVD Correia… - Sao Paulo Medical …, 2021 - SciELO Brasil
ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease.
Understanding its clinical findings contributes to better management of clinical conditions …