Review
Cell Biology
Sang Hoon Yoon, Ga Yeon Kim, Gyu Tae Choi, Jeong Tae Do
Summary: Turner syndrome is a genetic disorder characterized by incomplete dosage compensation of X-linked genes. It affects multiple organ systems and leads to various manifestations, including hypogonadotropic hypogonadism, short stature, cardiovascular abnormalities, liver and kidney disease, brain abnormalities, and skeletal problems. Understanding the phenotypic and disease manifestations of Turner syndrome in different organs is important for comprehensive management of patients with this condition.
Article
Gastroenterology & Hepatology
Isani Singh, Gillian Noel, Jennifer M. Barker, Kathryn C. Chatfield, Anna Furniss, Amber D. Khanna, Natalie J. Nokoff, Sonali Patel, Laura Pyle, Leena Nahata, Francis S. Cole, Chijioke Ikomi, Vaneeta Bamba, Patricia Y. Fechner, Shanlee M. Davis
Summary: This study investigates liver abnormalities in children with Turner Syndrome (TS) and finds a higher prevalence of elevated liver enzymes and liver diseases compared to matched controls. These findings highlight the importance of early and consistent liver function screening in TS and the need for further research on the etiology and treatment of liver disease in this population.
LIVER INTERNATIONAL
(2022)
Article
Obstetrics & Gynecology
Ronald Peek, Sapthami Nadesapillai, Thu Yen Thi Nguyen, Sarah Vassart, Dominique Smeets, Guillaume van de Zande, Alessandra Camboni, Didi Braat, Janielle van der Velden, Jacques Donnez, Kathrin Fleischer, Marie-Madeleine Dolmans
Summary: The impact of aneuploid granulosa and stromal cells on folliculogenesis of small ovarian follicles from patients with mosaic Turner syndrome (TS) was studied using a murine xenograft model. It was found that despite the presence of aneuploid cells, small follicles from TS patients were able to undergo normal development, suggesting that ovarian tissue cryopreservation could be a valid option to preserve fertility in young TS patients, especially before the age of 12.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Sapthami Nadesapillai, Janielle van der Velden, Dominique Smeets, Guillaume van de Zande, Didi Braat, Kathrin Fleischer, Ronald Peek
Summary: This case report describes a young girl initially diagnosed with exclusively 45,X Turner syndrome, but with a cryptic mosaicism in the ovaries. Despite the presence of normal oocytes, the study found that all analyzed follicles contained exclusively 45,X granulosa cells embedded in mosaic 45,X/47,XXX stromal tissue, which may have functional consequences for follicular development.
FERTILITY AND STERILITY
(2021)
Article
Biochemistry & Molecular Biology
Lu Liu, He Chen, Cheng Sun, Jianyun Zhang, Juncheng Wang, Meijie Du, Jie Li, Lin Di, Jie Shen, Shuang Geng, Yuhong Pang, Yingying Luo, Chen Wu, Yusi Fu, Zhe Zheng, Jianbin Wang, Yanyi Huang
Summary: Using a single-cell whole-genome sequencing method, researchers discovered that about 7.5% of cells in healthy humans have large-size copy number alterations, with trisomy 21 being the most common among autosomal copy number alterations and monosomy X being frequent in females over 30 years old. In individuals with phased genomes and identified X-inactivation ratios, the inactive X chromosomes were more frequently lost than the active ones.
Review
Pediatrics
Jasmine Aly, Paul Kruszka
Summary: Turner syndrome is the most common sex chromosome abnormality in females, with clinical features involving multiple organ systems and various dysfunctions. The lack of genotype/phenotype correlation studies limits the ability to provide accurate treatment guidance. However, advancements in genetic testing and analysis are rapidly improving our understanding of the genetic basis of the condition.
CURRENT OPINION IN PEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Elisavet Kouvidi, Sophia Zachaki, Nikoletta Selenti, Danai Veltra, Theodora Evmorfopoulou, Eirini Tsoutsou, Garifallia Tzifa, Christalena Sofocleous, Sarantis Gagos, Ariadni Mavrou
Summary: The study describes a novel unbalanced X;21 translocation in a 16-year-old girl, resulting in a derivative pseudodicentric chromosome X;21 lacking critical region for ovarian development and function. The primary amenorrhea and Turner-like characteristics of the proband are apparently due to the loss of specific genes on the translocated chromosome X segment.
GYNECOLOGICAL ENDOCRINOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Riku Kuse, Kojiro Ishii
Summary: Accurate transmission of genomic information is crucial for all living organisms, and eukaryotes have developed chromosomes to achieve this goal. While centromeres and telomeres are essential for chromosome function, they have the potential to detach and reattach to new chromosomal positions. These events, such as telomere fusion and centromere inactivation, occur spontaneously but have not yet been fully understood. Experimental setups using model organisms like yeast have provided valuable insights into the nature of these events.
Article
Multidisciplinary Sciences
Darcy T. Ahern, Prakhar Bansal, Maria K. Armillei, Isaac V. Faustino, Yuvabharath Kondaveeti, Heather R. Glatt-Deeley, Erin C. Banda, Stefan F. Pinter
Summary: This study investigates the impact of monosomy X on syncytiotrophoblast development in humans using X-monosomic human induced pluripotent stem cells (hiPSCs). The results suggest that monosomy X may alter the levels of placental genes and secretion of placental growth factor (PlGF) and human chorionic gonadotropin (hCG). The findings also demonstrate that the corresponding gene coexpression network modules are preserved in chorionic villi and term placenta.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Catherina T. Pinnaro, Chloe B. Beck, Heather J. Major, Benjamin W. Darbro
Summary: Turner syndrome (TS) is a chromosomal disorder characterized by the loss of the second sex chromosome and displays phenotypic heterogeneity. Congenital heart defects (CHD), including bicuspid aortic valve (BAV), are common in TS. Recent studies have shown the impact of X chromosome haploinsufficiency on the TS epigenome and transcriptome and suggested that genetic modifiers outside the X chromosome may influence CHD risk in TS. This study aimed to identify genetic variants associated with BAV in TS and found that rare variants in CRELD1 were significantly enriched in TS individuals with BAV.
Article
Medicine, General & Internal
Ming-Ching Shen, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma
Summary: This study analyzed three families with female hemophilia patients and found that all females were heterozygous carriers of F8 or F9 mutations, with skewed X chromosome inactivation. Additionally, two sporadic cases showed hypomethylation or unmethylation in the paternal X chromosome, suggesting the presence of paternal gonadal mosaicism. The results confirm that skewed XCI plays a role in hemophilia in heterozygous female patients and imply that parental gonadal mosaicism, followed by skewed XCI, contributes to hemophilia in sporadic female patients.
Article
Endocrinology & Metabolism
Jenifer P. Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, Sinead M. McGlacken-Byrne, Federica Buonocore, Ignacio del Valle, Gaganjit Kaur Madhan, Tony Brooks, Gerard S. Conway, John C. Achermann
Summary: This study aimed to investigate the global genetic variability in women with Turner syndrome (TS), whether common variants in X genes are associated with phenotype, and the replication of the association between autosomal TIMP3 variants and congenital cardiovascular anomalies (CCA). The results showed that there was no excess of genetic variability in women with TS, no obvious X-chromosome variants driving phenotype were found, but several possible genes/variants of interest emerged. Additionally, the association between autosomal TIMP3 variants and CCA was replicated.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Amal Essouabni, Mohamed Ahakoud, Hayat Aynaou, Laila Bouguenouch, Houda Salhi, Ouldim Karim, Hanan Elouahabi
Summary: Turner's syndrome is a rare genetic disease characterized by gonadal dysgenesis and chromosomal abnormalities. Triple X cell line mosaicism is found in only a small percentage of Turner syndrome patients. This study presents a rare and atypical case of a patient with three chromosomal lineages, in contrast to the typical clinical picture of Turner syndrome.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Infectious Diseases
Mateus V. de Castro, Monize V. R. Silva, Luana de M. Oliveira, Sarah C. Gozzi-Silva, Michel S. Naslavsky, Marilia O. Scliar, Monize L. Magalhaes, Katia M. da Rocha, Kelly Nunes, Erick C. Castelli, Jhosiene Y. Magawa, Keity S. Santos, Edecio Cunha-Neto, Maria N. Sato, Mayana Zatz
Summary: Researchers have found that patients with Turner syndrome have a weakened immune response to SARS-CoV-2, making them more susceptible to COVID-19. They also identified rare genetic variants related to interferon immunity in their genes. These findings are important for understanding the impact of COVID-19 in different populations.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2023)
Article
Multidisciplinary Sciences
Ying Zhang, Yongchen Yang, Pin Li, Sheng Guo
Summary: This study found that the retained X-chromosome derived from both parents is associated with a poorer response to GH therapy in Turner syndrome patients. The mother's age and height at the time of birth can significantly impact the patient's body/sexual development and the response to GH treatment. Therefore, careful consideration of the mother's age and height at birth, as well as the parental origin of the X-chromosome, is essential before developing a treatment plan for TS.