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Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.
J Pediatr Adolesc Gynecol
November 2024
Pediatric and Adolescent Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.
Study Objective: To evaluate the prevalence of germ cell tumors and the clinical monitoring practices for those who deferred prophylactic gonadectomy in a large North American cohort of individuals with Turner syndrome with Y-chromosome mosaicism (TS+Y).
Method: A query of the medical records at multiple North American children's hospitals was done using ICD codes related to Turner Syndrome. A retrospective chart review was conducted on those patients between ages 0 to 30 years with Y-mosaicism.
Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation.
Fertil Steril
October 2024
Department of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, the Netherlands.
Article Synopsis
- - The study aimed to investigate how removing one ovary for ovarian tissue cryopreservation (OTC) affects the remaining ovary's function in girls with Turner syndrome, monitoring them over several years to track pubertal development and hormone levels.
- - Conducted at a university hospital in the Netherlands, the research involved 28 girls aged 5-19, each with different karyotypes associated with Turner syndrome, and analyzed their hormone levels and pubertal milestones post-OTC.
- - Results showed a mixed response; while many participants experienced normal pubertal developments like thelarche and menarche, a notable decline in anti-Müllerian hormone (AMH) levels occurred shortly after OTC, leading to some girls requiring hormone replacement
The clinical diversity of primary hypothyroidism presenting as a spontaneous ovarian hyperstimulation syndrome.
Endocrinol Diabetes Metab Case Rep
July 2024
Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Vellore, Tamil Nadu, India.
Article Synopsis
- * The study reviewed five patients with untreated hypothyroidism who showed complications like multicystic ovaries and delayed bone age, with some experiencing severe symptoms like menorrhagia and ovarian torsion.
- * Early detection and a collaborative approach between gynecology and endocrinology are crucial for managing spontaneous OHSS, which can be life-threatening but is easy to treat with proper care.
[Clinical characteristics and management status of Turner syndrome in 1 089 children].
Zhonghua Er Ke Za Zhi
October 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology (HUST), Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China.
To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China. As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.
View Article and Find Full Text PDFHistologic analysis of gonadal tissue in patients with Turner syndrome and Y chromosome material.
J Pediatr Urol
July 2024
Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
This study investigates gonadal histology in individuals with Turner syndrome assigned female at birth and Y-chromosome material (TS+Y) who underwent prophylactic gonadectomy. Despite case reports suggesting spontaneous menarche and pregnancies in TS+Y, this research reveals the absence of germ cells, indicating low fertility likelihood. Germ cell neoplasia in-situ was present in some patients, emphasizing a non-negligible risk of cancer precursor.
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