Results 41 to 50 of about 1,721 (201)

AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia

UroPrecision, Volume 4, Issue 1, Page 64-68, March 2026.
Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy
Hangcheng Fu, Weijing Huang, Jeffrey T. White   +2 more
wiley   +1 more source

Keratoconus in association with Mullerian dysgenesis – A case report

Indian Journal of Ophthalmology. Case Reports, 2023
Keratoconus (KC) is a multifactorial disease with numerous associated systemic disorders. Hormonal dysfunction is commonly identified as a risk factor in the progression of KC.
Venugopal Anitha, Aditee Madkaikar, Aditya Ghorpade, Meenakshi Ravindran   +3 more
doaj   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source

AZFa candidate gene UTY and its X homologue UTX are expressed in human germ cells

Reproduction and Fertility, 2021
The Ubiquitous Transcribed Y (UTY a.k.a. KDM6C) AZFa candidate gene on the human Y chromosome and its paralog on the X chromosome, UTX (a.k.a. KDM6A), encode a histone lysine demethylase removing chromatin H3K27 methylation marks at genes transcriptional
Peter H Vogt, Jutta Zimmer, Ulrike Bender, Thomas Strowitzki   +3 more
doaj   +1 more source

Y chromosome in Turner syndrome: review of the literature

São Paulo Medical Journal
Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the ...
Rose Mary Rocco de Oliveira, Ieda Therezinha do Nascimento Verreschi, Monica Vannucci Nunes Lipay, Lilian Piñero Eça, Alexis Dourado Guedes, Bianca Bianco   +5 more
doaj   +1 more source

Classical gonadoblastoma: its relationship to the ‘dissecting’ variant and undifferentiated gonadal tissue

, 2017
Classical gonadoblastoma occurs almost entirely in the dysgenetic gonads of an individual who has a disorder of sex development. Approximately 40% of such neoplasms are bilateral.
Roth, Lawrence M., Lawrence M Roth, Liang Cheng, Cheng, Liang   +3 more
core   +1 more source

Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
To understand the relationship between genotype and phenotype in sex chromosome aneuploidies, retrospective cytogenetic and clinical data was collected for Klinefelter Syndrome (n = 57) and Turner Syndrome (n = 92) cases from a single academic medical center from 2013 to 2022. The cohorts were divided into subcategories based on the genotype.
Stephanie A. Hart, Joel A. Morales‐Rosado, Xinxiu Xu, Ashwini K. Yenamandra   +3 more
wiley   +1 more source

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

Acta Medica Lituanica, 2022
Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder
Ignas Trainavičius, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, Gilvydas Verkauskas   +4 more
doaj   +1 more source

Second edition ICCR dataset for testicular germ cell tumours: a reporting guide for histopathological diagnosis of orchiectomy specimens

Histopathology, Volume 88, Issue 1, Page 252-264, January 2026.
The current 2nd edition Orchiectomy dataset offers a rigorously validated, internationally developed checklist that supports high‐quality, standardised reporting and promotes clinical confidence across diverse healthcare settings. All ICCR datasets are freely available to the global pathology community via the ICCR website ([www.iccr‐cancer.org](http://
Felix Bremmer, Fleur Webster, Gedske Daugaard, Robert J. Hamilton, Muhammad T. Idrees, Chia‐Sui Kao, Kosuke Miyai, Maria Rosaria Raspollini, John R. Srigley, Satish Tickoo, Asli Yilmaz, Thomas Wagner, Daniel M. Berney   +12 more
wiley   +1 more source

Gonadoblastoma

, 1991
Bu çalışma, IX. Ulusal Patoloji Kongresi‘nde bildiri olarak sunulmuştur.Gonadoblastoma hemen her zaman disgenetik gonadlardan gelişen ve nadir görülen bir tümördür.

core   +1 more source