A case of mixed (asymmetric) gonadal dysgenesis is reported in a girl with ambiguous external genitalia, a right intra-abdominal testis, a left streak gonad containing follicle-like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X-chromatin negative and a Y-chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leucocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the Y chromosome in 36% of the cells: 45,X/46,XY/46,X + i(Yp)/46,X, + Yq-/47,XYY/47,XY + Yq-.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1399-0004.1983.tb01868.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study.
Am J Med Genet C Semin Med Genet
January 2025
Department of Women's and Children's Health, University of Liverpool, Liverpool, UK.
Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular function, and ambulatory blood pressure (BP). Biochemical indicators of cardiovascular risk were also measured.
View Article and Find Full Text PDFParsonage-Turner Syndrome and Occupational Therapy Interventions: A Case Report.
Cureus
December 2024
Department of Occupational Therapy, Grand Valley State University, Grand Rapids, USA.
Parsonage-Turner syndrome (PTS) is a rare brachial plexus neuropathy with a sudden onset of upper extremity pain, weakness, and loss of range of motion (ROM). Studies on occupational therapy (OT) interventions are limited. The aim of this case report was to explore the OT experiences, interventions, and outcomes of a patient with PTS.
View Article and Find Full Text PDFSubmicroscopic copy number variants in Indian children with gene panel negative 46, XY Gonadal Dysgenesis: An exploratory study using comparative genomic hybridization.
Andrology
January 2025
Division of Pediatric Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Background: 46, XY disorders of sex development (DSD) are a group of highly heterogeneous conditions in which the molecular etiology remains unknown in a significant proportion of patients, even with massive parallel sequencing. Clinically significant copy number variants (CNVs) are identified in 20-30% of cases, particularly among those with gonadal dysgenesis (GD) and no molecular diagnosis.
Methods: Fourteen patients with 46, XY DSD due to GD in whom no pathogenic/likely pathogenic variants were found on next-generation sequencing using a targeted panel of 155 genes were screened for clinically significant CNVs using Affymetrix Comparative Genomic Hybridization (CGH).
MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.
Am J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
View Article and Find Full Text PDFEarly surgical intervention for Parsonage-Turner Syndrome after COVID-19 infection results in improved outcomes.
J Hand Surg Eur Vol
January 2025
Division of Plastic and Reconstructive Surgery, Department of Surgery, University of Florida College of Medicine, Gainesville, FL, USA.
Parsonage-Turner Syndrome after COVID-19 infection or vaccination is rare. Motor, sensory deficits and neuropathic pain may result from inflammation and compression around the brachial plexus. Early surgical intervention in patients with significant motor deficits may result in improved outcomes.
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!