To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Contrast-enhanced ultrasound for diagnosing testicular infarction: Findings from a retrospective cohort analysis.
Medicine (Baltimore)
December 2024
Department of Science and Education, Dalang Hospital, Dongguan, Guangdong, China.
This study aims to evaluate the ultrasonographic features associated with testicular infarction, determine the diagnostic effectiveness of contrast-enhanced ultrasound (CEUS) in assessing the testicular vascular system, and investigate the etiological factors contributing to testicular infarction. A retrospective analysis was performed involving 12 patients with confirmed testicular infarction. Each participant underwent standard superficial ultrasound examinations, followed by CEUS.
View Article and Find Full Text PDFIntrinsic factors in the pathogenesis of hidradenitis suppurativa: Genetics, hormones, and the microbiome.
J Am Acad Dermatol
December 2024
Skin Hospital, Darlinghurst, Sydney, Australia; University of New South Wales, Sydney, Australia; Laboratory of Translational Cutaneous Medicine, Ingham Institute, Sydney, Australia; Department of Dermatology, Liverpool Hospital, Sydney, Australia. Electronic address:
The pathogenesis of hidradenitis suppurativa is complex and multifaceted. Our understanding of disease mechanisms is in constant flux with new genetic, inflammatory, and microbiological insights upending previous paradigms and enlightening us as to the complex connections between different drivers of disease. This updated review integrates novel genetic insights from genome wide association studies, along with novel basic science data from single cell transcriptomic studies and recent interventional translational work to inform our evolving understanding of the disease.
View Article and Find Full Text PDFPostnatal Ovarian Transdifferentiation in the Absence of Estrogen Receptor Signaling Is Dependent on Genetic Background.
Endocrinology
November 2024
Reproductive & Developmental Biology Laboratory, NIEHS, NIH, Research Triangle Park, NC 27709, USA.
Normal ovarian function requires the expression of estrogen receptors α (ESR1) and β (ESR2) in distinct cell types within the ovary. The double estrogen receptor knockout (αβERKO) ovary had the appearance of seminiferous tubule-like structures that expressed SOX9; this phenotype was lost when the animals were repeatedly backcrossed to the C57BL/6J genetic background. A new line of ERKO mice, Ex3αβERKO, was developed for targeted disruption on a mixed genetic background.
View Article and Find Full Text PDFMLKL deficiency elevates testosterone production in male mice independently of necroptotic functions.
Cell Death Dis
November 2024
Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Mixed lineage kinase domain-like (MLKL) is a pseudokinase, best known for its role as the terminal effector of the necroptotic cell death pathway. MLKL-mediated necroptosis has long been linked to various age-related pathologies including neurodegeneration, atherosclerosis and male reproductive decline, however many of these attributions remain controversial. Here, we investigated the role of MLKL and necroptosis in the adult mouse testis: an organ divided into sperm-producing seminiferous tubules and the surrounding testosterone-producing interstitium.
View Article and Find Full Text PDFExposure to perfluorodecanoic acid impairs follicular development via inducing granulosa cell necroptosis.
Ecotoxicol Environ Saf
November 2024
Department of Toxicology of School of Public Health, Department of Gynecologic Oncology of Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China; Cancer Center, Zhejiang University, Hangzhou, China. Electronic address:
Per- and polyfluoroalkyl substances (PFAS) have attracted significant attention due to their environmental toxicity. However, the detrimental impact of PFAS on the development of the female reproductive system remains controversial. In this study, we investigated the effects of three specific PFAS compounds perfluorooctanoic acid (PFOA), perfluorononanoic acid (PFNA), and perfluorodecanoic acid (PFDA) on ovarian development.
View Article and Find Full Text PDFWant 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!