Results 51 to 60 of about 8,371 (167)

Trisomy 26 in a Holstein calf with disorders of sex development

open access: yesAnimal Genetics, Volume 56, Issue 1, February 2025.
Abstract Hypospadias occurs sporadically in male livestock and is characterized by a non‐fused urethra during fetal development. In this study, perineal hypospadias, a bifid scrotum, penile hypoplasia, and bilateral abdominal cryptorchidism were diagnosed in a neonatal Holstein male calf.
Markus Freick   +6 more
wiley   +1 more source

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

open access: yesBirth 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   +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

open access: yesClinical 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

Male pseudohermaphroditism presented with sudden cardiac arrest [PDF]

open access: yes, 2012
Torsades de pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. We report a case of male pseudohermaphroditism with hyperaldosteronism due to a 17α-hydroxylase deficiency presented
정보영   +4 more
core  

Complex Urogenital Malformation Associated with Female Pseudohermaphroditism: Caudal Dysgenesis Syndrome

open access: yes, 2006
Caudal dysgenesis syndrome is a rare cause of female pseudohermaphroditism. This syndrome consists of absent perineal and anal openings in association with ambiguous genitalia, urogenital, colonic, and lumbosacral anomalies.
HAKGÜDER, FAİKA GÜLCE   +11 more
core   +1 more source

Surgical approach to male pseudohermaphroditism.

open access: yes, 1993
Male pseudohermaphroditism (MPH) is defined as incomplete masculinization in patients with normal male karyotype (XY) and testicular histology. MPH encompasses a spectrum of female to male phenotypes and presents both diagnostic and technical challenges ...
Packer, M G
core   +1 more source

The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review

open access: yesReproductive 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   +6 more
wiley   +1 more source

Persistent Mullerian duct syndrome with transverse testicular ectopia: A case report

open access: yesUrology Case Reports, 2019
Persistent Mullerian duct syndrome (PMDS) is a rare entity of internal male pseudohermaphroditism. Transverse testicular ectopia (TTE) is the condition in which one testis moves to the other side and both testes pass the same inguinal canal.
Prem Raj Sigdel   +5 more
doaj   +1 more source

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

open access: yesJournal 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   +9 more
wiley   +1 more source

A Case of Female Pseudohermaphroditism [PDF]

open access: yes, 1961
This paper revealed a case of female pseudohermaphroditism without formonal unbarance, who was a product of a mother to whom progestin had been administered for 81 days since her second month of pregnancy at which time diagnosis of threatened abortion ...
斉藤, 広, 山本, 治
core  

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