Purpose: To describe a Gender Assessment Team that has provided a multidisciplinary approach to the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of patients with ambiguous genitalia, intersex disorders, and other genital anomalies, collectively termed disorders of sex development; and to determine the major diagnostic categories and approach.
Methods: A retrospective review of 250 patients evaluated by the Team at Children's Hospital and Regional Medical Center in Seattle, WA, from January 1981 through December 2005. The Team included the following specialties: medical genetics, cytogenetics, gynecology, pediatric urology, endocrinology, and psychiatry.
Results: Of the subjects, 177 were infants, 46 were children or adolescents, and 27 had a multisystem genetic condition. The most common diagnoses were congenital adrenal hyperplasia (14%), androgen insensitivity syndrome (10%), mixed gonadal dysgenesis (8%), clitoral/labial anomalies (7%), hypogonadotropic hypogonadism (6%), and 46,XY small-for-gestational-age males with hypospadias (6%).
Conclusion: The six most common diagnoses comprised 50% of the cohort. The expertise of a multidisciplinary team allowed for integrated care for patients with disorders of sex development and identification of novel conditions. Geneticists play an important role in a team approach through knowledge of genetic testing options and diagnosis of patients with karyotypic abnormalities and syndromes with genital anomalies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/gim.0b013e3180653c47 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.
Rheumatology (Oxford)
January 2025
Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.
Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.
Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.
Applicability of Retrospective and Prospective Gender Scores for Clinical and Health Data: Protocol for a Scoping Review.
JMIR Res Protoc
January 2025
Medical Informatics Laboratory, University Medicine Greifswald, Greifswald, Germany.
Background: Gender is known to have a strong influence on human health and disease. Despite its relevance to treatment and outcome, gender is insufficiently considered in current health research. One hindering factor is the poor representation of gender information in clinical and health (meta) data.
View Article and Find Full Text PDFEstimating Trends in Cardiovascular Disease Risk for the EXPOSE (Explaining Population Trends in Cardiovascular Risk: A Comparative Analysis of Health Transitions in South Africa and England) Study: Repeated Cross-Sectional Study.
JMIR Cardio
January 2025
Faculty of Education, Health and Human Sciences, University of Greenwich, London, United Kingdom.
Background: Cardiovascular diseases (CVDs) are the leading cause of death globally. Demographic, behavioral, socioeconomic, health care, and psychosocial variables considered risk factors for CVD are routinely measured in population health surveys, providing opportunities to examine health transitions. Studying the drivers of health transitions in countries where multiple burdens of disease persist (eg, South Africa), compared with countries regarded as models of "epidemiologic transition" (eg, England), can provide knowledge on where best to intervene and direct resources to reduce the disease burden.
View Article and Find Full Text PDFPregnancy Complications and Long-Term Atherosclerotic Cardiovascular Disease Risk.
Curr Atheroscler Rep
January 2025
Department of Medicine, Division of Cardiology, University of California, Los Angeles, Los Angeles, CA, USA.
Purpose Of Review: Discuss the relationship between pregnancy complications and long-term atherosclerotic cardiovascular disease (ASCVD) risk.
Recent Findings: A large body of research confirms an association between pregnancy complications and increased short and long-term ASCVD risk and seeks to understand mechanisms for these associations. Social determinants of health continue to have a critical impact on the prevalence of adverse pregnancy outcomes (APOs) and long term ASCVD risk.
The long-term development outcomes of the offspring born to patients with systemic lupus erythematosus: a cross-sectional study.
Eur Child Adolesc Psychiatry
January 2025
Department of Pediatrics, Peking University People's Hospital, No. 11 Xizhimen South Street, Beijing, 100044, China.
This study aims to explore the long-term physical, neurological, social and emotional development outcomes of the offspring born to patients with systemic lupus erythematosus (SLE), and to provide insights that can assist pediatricians in enhancing the long-term prognosis of these children. We conducted a cross-sectional study on the offspring of SLE patients who had undergone pregnancy and were admitted to our obstetrics department between January 1, 2016 and September 30, 2021. The control group consisted of offspring born to mothers without connective tissue disease, and was matched 1:1 based on age (birth date ± 1 month) with the offspring of SLE patients.
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!