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Mental Health Issues Associated With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
January 2025
Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research (CHEAR) Center, Michigan Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Context: The goal of this review is to move beyond summarizing what is known about psychosexual development in females with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency-commonly studied as a natural experiment to understand prenatal androgen effects in 46,XX individuals. Instead, it will explore the various aspects of the condition that significantly impact the daily lives of both male and female patients and their families, with a particular focus on the implications for psychosocial, educational, and vocational adaptation.
Evidence Acquisition: This work represents a selective, yet balanced review of papers highlighting potential threats to positive psychological adaptation in both male and female individuals with CAH.
Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003-2022.
Am J Med Genet A
January 2025
Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Parents of children with Down syndrome have historically reported poor experiences receiving a prenatal diagnosis. In a 2003 survey, mothers reported that their physicians pitied them, emphasized negative aspects of Down syndrome, and encouraged them to terminate the pregnancy. This study assesses whether parents' perceptions have since improved.
View Article and Find Full Text PDFEvaluating and Enhancing Japanese Large Language Models for Genetic Counseling Support: Comparative Study of Domain Adaptation and the Development of an Expert-Evaluated Dataset.
JMIR Med Inform
January 2025
Graduate School of Science and Technology, Nara Institute of Science and Technology, Ikoma, Japan.
Background: Advances in genetics have underscored a strong association between genetic factors and health outcomes, leading to an increased demand for genetic counseling services. However, a shortage of qualified genetic counselors poses a significant challenge. Large language models (LLMs) have emerged as a potential solution for augmenting support in genetic counseling tasks.
View Article and Find Full Text PDFComparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review.
Prenat Diagn
January 2025
Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Previous studies suggest that NIPT's implementation differed widely across countries but offer limited insight into what shaped these differences. To address this gap, we conducted an in-depth analysis of how NIPT was incorporated into prenatal care in the US, the Netherlands, and Japan-countries with similar economic status-to identify actionable lessons. We conducted an integrative literature review on the process of introducing and implementing NIPT, stakeholders' roles, documented considerations in the decision to introduce NIPT, implementation choices, and NIPT uptake.
View Article and Find Full Text PDFThe appearance of external genital organs and anogenital distance in male fetal cadavers.
Anat Sci Int
January 2025
Department of Anatomy, Faculty of Medicine, Üsküdar University, Istanbul, Türkiye.
This study aimed to determine the normal size of the male external genital organs and anogenital distance in human fetuses during the fetal period through the anatomic morphometric method. The study was performed on 104 spontaneously aborted human male fetuses aged between 10 and 39 weeks of gestation. Fetuses were divided into groups according to gestational weeks, months, and trimesters.
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