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KMT2C Polymorphism in Familial Hypospadias.
Indian J Pediatr
January 2025
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, 110029, India.
Hypospadias, a common congenital anomaly of male genitalia, shows significant heritability and familial recurrence, particularly in consanguineous families. This study explored the role of KMT2C polymorphisms in a Yemeni family with two affected siblings. Comprehensive analysis identified 475 unique SNPs in KMT2C, with 59 shared between parents, suggesting common ancestry.
View Article and Find Full Text PDFBirth defects reporting and the use of dydrogesterone: a disproportionality analysis from the World Health Organization pharmacovigilance database (VigiBase).
Hum Reprod Open
January 2025
Regional Center of Pharmacovigilance, Pharmacology Department, Cochin Hospital, AP-HP.Centre-Université Paris Cité, Paris, France.
Study Question: Is there an association between dydrogesterone exposure during early pregnancy and the reporting of birth defects?
Summary Answer: This observational analysis based on global safety data showed an increased reporting of birth defects, mainly hypospadias and congenital heart defects (CHD), in pregnancies exposed to dydrogesterone, especially when comparing to progesterone.
What Is Known Already: Intravaginal administration of progesterone is the standard of care to overcome luteal phase progesterone deficiency induced by ovarian stimulation in ART. In recent years, randomized controlled clinical trials demonstrated that oral dydrogesterone was non-inferior for pregnancy rate at 12 weeks of gestation and could be an alternative to micronized vaginal progesterone.
International consensus on research priorities in hypospadias using a Delphi study approach.
J Pediatr Urol
December 2024
Department of Public Health, College of Health Sciences, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.
Introduction: Hypospadias is a common congenital anomaly of the male genitalia that poses significant management and treatment challenges. Gaining a comprehensive understanding of priority research questions in hypospadiology will be essential to reach agreement on the optimal approach to assessment, treatment, and outcome prediction for affected patients.
Methods: We employed a consensus-building Delphi method to identify and prioritize research questions in the hypospadias field.
Correlation between histopathology properties of dartos tissue and the severity of penile curvature in hypospadias.
Arch Ital Urol Androl
December 2024
Medical Doctor Study Program, Faculty of Medicine Universitas Udayana, Denpasar.
Purpose: Hypospadias, one of the congenital anomalies commonly associated with some degrees of ventral penile curvature that may arise from malformation of dartos fascia, the chordee. Our study aims to determine the correlation between the histopathology properties of dartos fascia and the severity of ventral penile curvature in hypospadias.
Materials And Methods: One hundred hypospadias patients with various degrees of ventral penile curvature were included in this cross-sectional analytical study from 2020 to 2022.
Congenital anomalies associated with the use of cardiovascular drugs during pregnancy: a large-scale data analysis from the FAERS database.
Expert Opin Drug Saf
December 2024
School of Pharmaceutical Sciences, Jinan University, Guangzhou, Guangdong Province, China.
Background: Cardiovascular drugs can cross the placenta during pregnancy, potentially exposing the fetus to teratogenic effects. However, ethical constraints on clinical trials with pregnant women limit safety data and result in inadequate drug labeling.
Research Design And Methods: Using the FAERS database (2004-2023), we conducted a retrospective pharmacovigilance study analyzing adverse event reports involving congenital anomalies in newborns (<28 days).
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