Results 51 to 60 of about 1,925,913 (166)

Patterns of Co‐Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital‐Based Surveillance Study

Birth Defects Research, Volume 117, Issue 1, January 2025.
ABSTRACT Background The landscape of co‐occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored. Aims This study aims to elucidate the complex patterns of co‐occurring defects in Chinese population. Materials and Methods We analyzed cases from the Chinese Birth Defects Monitoring Network (2007‐2019) with ...
Zhi‐Yu Chen, Wen‐Li Xu, Yu‐Yang Gao, Wen‐Yan Li, Zhen Liu, Jia‐Yuan Zhou, Li Dai   +6 more
wiley   +1 more source

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular ...
Christian Omoaghe
wiley   +1 more source

Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism

Brazilian Journal of Medical and Biological Research, 1998
We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single ...
D.F. Cabral, A.T. Maciel-Guerra, C. Hackel   +2 more
doaj   +1 more source

The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review

Reproductive Medicine and Biology, Volume 24, Issue 1, January/December 2025.
ABSTRACT Background Müllerian duct anomalies (MDAs) are developmental malformations of the female genital tract that present as a series of abnormalities within the reproductive tracts of females. The etiology of MDAs is complex and heterogeneous, especially genetic factors.
Lin He, Shuya Chen, Yujun Sun, Zhi Zheng, Yuxiao Li, Chunfang Chu, Lin Li   +6 more
wiley   +1 more source

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.

, 1995
Genital abnormalities have been noted in several patients with the X-linked form of alpha-thalassemia and mental retardation syndrome (ATR-X). The initial clinical report of the condition documented a phenotypic female with 46,XY karyotype.
R. M. Winter, Baraitser, M, Reardon, W, Gibbons, RJ, R. J. Gibbons, Winter, RM, W. Reardon, M. Baraitser   +7 more
core   +1 more source

Persistent Mullerian Duct Syndrome Presenting in an Incarcerated Recurrent Inguinal Hernia with Hydrocele

Urology Case Reports, 2017
Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair.
Lauren Pulido, Gosta Iwasiuk, Michael Sparkuhl, Dang Bui, Haley Springs   +4 more
doaj   +1 more source

Exploring the dual role of endoplasmic reticulum stress in urological cancers: Implications for tumor progression and cell death interactions

Journal of Cell Communication and Signaling, Volume 18, Issue 4, December 2024.
Abstract The endoplasmic reticulum (ER) is crucial for maintaining calcium balance, lipid biosynthesis, and protein folding. Disruptions in ER homeostasis, often due to the accumulation of misfolded or unfolded proteins, lead to ER stress, which plays a significant role in various diseases, especially cancer.
Najma Farahani, Mina Alimohammadi, Mehdi Raei, Noushin Nabavi, Amir Reza Aref, Kiavash Hushmandi, Salman Daneshi, Alireza Razzaghi, Afshin Taheriazam, Mehrdad Hashemi   +9 more
wiley   +1 more source

Persistent müllerian duct syndrome

Indian Journal of Pathology and Microbiology, 2009
Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism characterized by the presence of the Mόllerian duct structures in an otherwise phenotypically as well as genotypically normal male.
Prakash Neeraj, Khurana Anuj, Narula Bhawna   +2 more
doaj  

Restoring function to inactivating G protein‐coupled receptor variants in the hypothalamic–pituitary–gonadal axis1

Journal of Neuroendocrinology, Volume 36, Issue 9, September 2024.
Pharmacological chaperones (PC's) are an emerging class of cell permeant small molecules that can stabilise the folding of misfolded variant proteins, thus restoring function. G protein‐coupled receptors (GPCRs) are a family of plasma membrane associated receptors that have been shown to be amenable to PC rescue.
Tarryn Radomsky, Ross C. Anderson, Robert P. Millar, Claire L. Newton   +3 more
wiley   +1 more source

Steroid 5 a-reductase type-2 Gene Mutations in the Turkish Population

Endocrinology Research and Practice, 2022
5a-reductase deficiency results from reduced conversion of testosterona to the more potent androgen, dihydrotestosterone. Alterations in 5a-reduc1ase type-2 gene are responsible from the syndrome.
Selçuk Can
doaj   +2 more sources