The authors describe the first case reported in Ivory Coast of an 18-year-old African girl for a small size and amenorrhea and failure to reach puberty. There was no dysmorphism. The uterus was infantile. X-ray examination of the skeleton revealed early osteoporosis and KOSOWICZ sign. Hormonal evaluation demonstrated hypertrophic hypogonadism. Diagnosis of TURNER's syndrome was confirmed by karyotype obtained by culture of peripheral blood and which was 46,Xi (Xq)/45,X, associating a mosaic and isochromosome q. Hormonal therapy induced menstruation and led to normal breast development. This case report confirms that these syndromes occur in Black Africa where diagnosis remains difficult due to the sophisticated facilities required.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Structural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics.
Clin Chem
January 2025
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, United States.
Background: Structural variation (SV), defined as balanced and unbalanced chromosomal rearrangements >1 kb, is a major contributor to germline and neoplastic disease. Large variants have historically been evaluated by chromosome analysis and now are commonly recognized by chromosomal microarray analysis (CMA). The increasing application of genome sequencing (GS) in the clinic and the relatively high incidence of chromosomal abnormalities in sick newborns and children highlights the need for accurate SV interpretation and reporting.
View Article and Find Full Text PDFIsochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas.
Cureus
August 2024
Department of Internal Medicine, Sri Ramaswamy Memorial (SRM) Medical College Hospital and Research Centre, SRM Institute of Science and Technology, Kattankulathur, IND.
Isochromosome mosaic Turner syndrome (IMTS) is a rare genetic variant of Turner syndrome (TS). The diagnosis of TS can be missed until adolescence or early adulthood in females with minimal symptoms. The clinical features of mosaic TS can be atypical and should be evaluated thoroughly to detect potential complications.
View Article and Find Full Text PDF[Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40]/45,X[3]].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2024
Central Laboratory, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222062, China.
Article Synopsis
- The study aims to investigate the link between structural chromosomal abnormalities and clinical symptoms in a 13-year-old girl with gonadal dysplasia, focusing on her primary amenorrhea and health conditions.
- Clinical evaluations revealed significant hormonal changes, small ovaries, and a specific chromosomal karyotype indicating abnormalities involving the X chromosome, which differ from her parents' normal karyotypes.
- Findings suggest that her unique chromosomal structure contributed to her reproductive system issues, resembling Turner syndrome, while physical growth (height) remained unaffected.
Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report.
Ann Med Surg (Lond)
July 2024
Faculty of Medicine, Damascus University, Damascus, Syria.
Introduction: Turner syndrome (TS) is the most common sex chromosome abnormality in women, caused by a complete or partial absence of the second sex chromosome. The karyotype 46, X,i(Xq) is the underlying cause in about 10% of the cases of TS. Hepatic abnormalities are frequent in TS.
View Article and Find Full Text PDFDefining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline.
Cell Rep
June 2024
Department of Biomedical Sciences, University of Pennsylvania School of Veterinary Medicine, 3800 Spruce Street, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA; Institute for Regenerative Medicine, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:
Article Synopsis
- Aberrant male germline development can cause a type of cancer called seminoma, which is a tumor in the testicles.
- Seminomas are similar to early-stage germ cells and often have an extra piece of chromosome 12.
- Researchers are studying seminomas using special cells from patients to understand what causes this cancer and how it forms, since there aren't any mouse models to help with this research.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!