Three tall, phenotypic female siblings with XY gonadal dysgenesis were found to have short fourth metacarpal bones (bilateral in two and unilateral in the other). Clitoromegaly was observed in the two older siblings, without hirsutism. Bilateral streak gonads were found in all three. A gonadoblastoma was present in the left streak gonad of the youngest, and an adenomatoid tumor in the left streak gonad of the oldest, who was diabetic. Determination of androgens from peripheral and gonadal venous plasma revealed androgen secretion by the streak gonads. On the basis of clinical findings, familial tendency, and androgen secretion from the streak gonads in these patients, it is proposed that the XY gonadal dysgenesis represents a severe form of male pseudohermaphroditism.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/0002-9378(80)90023-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Transition to Adult Care in Turner Syndrome: Research Gaps and Strategies for Achieving Success.
Am J Med Genet C Semin Med Genet
January 2025
Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level.
View Article and Find Full Text PDFGenomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding and noncoding variants. One gene with an excess of protein-coding variants is that also is the gene underlying the Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). In previous work, we have identified noncoding variants in an enhancer of called hs737 and further showed that there was an enrichment of deletions of this enhancer in individuals with neurodevelopmental disorders.
View Article and Find Full Text PDFClinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population.
J Pediatr Endocrinol Metab
January 2025
Department of Genetics, Reproductive Biomedicine Research Center, 48499 Royan Institute for Reproductive Biomedicine, ACECR , Tehran, Iran.
Differences of sex development (DSD) refer to various congenital conditions affecting the urogenital and hormonal systems. Accurate diagnosis and personalized management are crucial for supporting patients through complex decisions, such as those related to gender identity. This study represents the first comprehensive investigation into DSD in Iran, analyzing patient's clinical and genetic data between 1991 and 2020.
View Article and Find Full Text PDFBeyond base pairs: Using simulation to build genomic competency in pediatric nurse practitioners.
J Pediatr Nurs
January 2025
William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, United States of America. Electronic address:
Genomics is a lifespan competency that has relevance for pediatric nursing practice. Identifying individuals who could benefit from genomic healthcare can enable timely diagnosis and treatment to improve health and wellbeing outcomes. Nurse practitioners (NPs) must have genomic competency to provide high quality, comprehensive pediatric care and support families through the continuum of care.
View Article and Find Full Text PDFSevere bicuspid aortic valve regurgitation with ascending aortic aneurysm in a 53-year-old female patient with Turner syndrome.
Kardiol Pol
January 2025
2nd Department of Radiology, Medical University of Lublin, Lublin, Poland.
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!