Results 101 to 110 of about 167,087,863 (243)

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study. [PDF]

Endocr Connect, 2023
Tang Y, Chen Y, Wang J, Zhang Q, Wang Y, Xu Y, Li X, Wang J, Wang X.   +8 more
europepmc   +1 more source

Chromosomal Disorders of Sex Development

, 2018
Chromosomal sex is, for the most part, congruently XX female and XY male. The XX and XY embryo are built on a fundamentally similar outline plan, and only as development proceeds do certain modifications evolve. If at any point in this sequential process
R. J McKinlay Gardner, David J Amor
core   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Placental and juvenile immune responses to maternal immune activation are differentially regulated by sex chromosomes and gonads across gestation

Journal of Neuroinflammation
Sex differences are a defining feature of neurodevelopmental disorders (NDDs), with males diagnosed up to four times more frequently than females.
Stephanie Salia, Nadine T. Burry, Meagan E. Hinks, Kerri M. Sparkes, Alison M. Randell, Alexandre S. Maekawa, Nicole Reid, Lucas F. Fowler, Rachel Q. Kelly, Jai-Lynn Francis, Madison C. Youden, Stephanie H.G. Pelley, Susan G. Walling, Ashlyn Swift-Gallant   +13 more
doaj   +1 more source

Urological management in a pediatric patient with mixed gonadal dysgenesis

Urology Case Reports
Disorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,
Wendy Matilde Chipa Beizaga, Luis José Orbegoso Celis, Brandom Juced Torres Marigorda, Miguel Martín Aguilar Ulloque, Kilder Nicolay García Murga, Valeria Linares Vega, Fernando Jeancarlos Imán Izquierdo, Ronald Aquino-Ortega, Juana del Valle-Mendoza, Wilmer Gianfranco Silva-Caso   +9 more
doaj   +1 more source

A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male Infertility

Andrology, EarlyView.
ABSTRACT Background Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large‐headed spermatozoa with multiple flagella, usually caused by bi‐allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved.
Aurore Perrin, Frédéric Morel, Zeina Wehbe, Cynthia Frapsauce, Nadia Gueganic, Corinne Tous, Séverine Commet, Laura Dijols, Audrey Basinko, Nathalie Douet‐Guilbert, Célia Tebbakh, Zine‐Eddine Kherraf, Pierre F. Ray, Charles Coutton, Guillaume Martinez   +14 more
wiley   +1 more source

Birth Weight in Different Etiologies of Disorders of Sex Development

, 2017
Context: It is well established that boys are heavier than girls at birth. Although the cause of birth weight (BW) difference is unknown, it has been proposed that it could be generated from prenatal androgen action.
GÜRAN, TÜLAY
core   +1 more source