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Uncommon presentation: monozygotic twins with Turner syndrome.
BMJ Case Rep
October 2024
Pediatrics and Child Health, The Aga Khan University Hospital Main Campus Karachi, Karachi, Sindh, Pakistan
Turner syndrome (TS) affects approximately 1 in 2500 female live births globally, making it the most common sex chromosomal abnormality in females. It results from a partially or completely missing X chromosome, often occurring in mosaic karyotypes. TS is associated with various health issues, including short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital heart defects, endocrine disorders and autoimmune disorders.
View Article and Find Full Text PDFPrenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report.
Cureus
October 2024
Cellular Biology and Anatomy, Louisiana State University Health Sciences Center, Shreveport, USA.
Turner syndrome is a chromosomal disorder affecting females characterized by the partial or complete absence of one X chromosome. The pathogenesis of Turner syndrome primarily arises from chromosomal nondisjunction during gametogenesis, leading to various genotypic presentations. The most common genotype is 45, XO, representing a monosomy of the X chromosome.
View Article and Find Full Text PDFVariability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam.
Indian J Endocrinol Metab
August 2024
Department of Endocrinology, Gauhati Medical College and Hospital, Guwahati, Assam, India.
Article Synopsis
- The study examines the spectrum of differences of sex development (DSD) in Assam, focusing on various conditions, sex assignment at birth, and factors influencing these decisions.
- It reviews a decade's worth of records from patients with DSD, highlighting that 46, XY DSD is the most common type, particularly due to androgen biosynthesis disorders.
- Findings indicate variability in age of presentation and the degree of ambiguity, emphasizing the need for comprehensive diagnostic and management strategies in resource-limited settings.
Objective: To determine whether we can safely and successfully transplant an ovary tissue allograft from a nonidentical donor to her Turner syndrome sister.
Design: Transplantation of cryopreserved ovary tissue, as well as fresh transplantation of ovarian tissue between identical twins, is now well established with numerous reported successful cases. However, there have not yet been any ovary transplants between nonidentical women requiring immunosuppression (ovary allotransplant).
Successful management of pregnancy in Turner syndrome (Monosomy X): A rare condition-based learning experience from Vietnam.
Int J Reprod Biomed
May 2024
Department of High-Risk Pregnancy, Tu Du Hospital, Ho Chi Minh City, Vietnam.
Background: Turner syndrome (TS) is recognized with partial or complete loss of the second sex chromosome, occurring in approximately one in 2500 live births, and related to high failure of pregnancy. However, along with the advantage of assisted reproductive technology, the cases of TS pregnant women have been recently addressed worldwide. Therefore, the reproductive health of TS pregnant women should be a concern by physicians and obstetricians, particularly, in the low-middle income countries with low-resource settings.
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