Results 31 to 40 of about 1,949 (196)

Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma

open access: yesFrontiers in Pediatrics, 2022
We report a rare case of bilateral HCG-secreting gonadoblastomas (Gb) in a 5.25-year-old girl of 45, X Turner syndrome (TS) with gonadal Y chromosome mosaicism. The clinical data were summarized, and the literatures were reviewed.
Rujiang Zheng   +11 more
doaj   +1 more source

Dysgerminoma in a female with turner syndrome and Y chromosome material: A case-based review of literature

open access: yesIndian Journal of Endocrinology and Metabolism, 2012
We report a 17-year-old girl evaluated for primary amenorrhea. Cytogenetic analysis of the peripheral blood lymphocytes revealed normal autosomes with 46X inv (Y) confirming the diagnosis of Turner′s syndrome with Y cell line.
Sunil Kumar Kota   +5 more
doaj   +1 more source

Gonadectomy in patients with disorder of sexual development

open access: yesUrological Science, 2018
Objective: The objective of this study is to investigate clinical characteristics and treatment outcomes of patients with disorder of sexual development (DSD) who underwent gonadectomy at a single tertiary center.
Kuan-Ting Chen   +4 more
doaj   +1 more source

Characteristics and karyotype analysis of a patient with turner syndrome complicated with multiple-site tumors: A case report

open access: yesOpen Life Sciences, 2022
Turner syndrome (TS) is a congenital chromosomal abnormality that affects approximately 1 in 2,500 people. Both in China and abroad, few studies exist on the incidence of tumors in patients with TS.
Yang Li   +5 more
doaj   +1 more source

Seminoma with focal gonadoblastoma in anatomically normal male: A rare case report

open access: yesIndian Journal of Pathology and Microbiology, 2020
Gonadoblastomas are unusual gonadal neoplasias that frequently appear in dysgenetic gonads. Approximately 80% of patients are phenotypic females and 20% are males. A very high frequency is associated with malignant germ cell tumor.
Sujata S Giriyan   +2 more
doaj   +1 more source

Turner Syndrome: Update the Paradigm of Diagnosis, Clinical Care and Consequences of Y cell lines [PDF]

open access: yesInternational Journal of Anatomy Radiology and Surgery, 2014
Turner’s syndrome (TS) is a common chromosomal aneuploidy, present in humans with an incidence rate of 1:2500 of the new-born infants with phenotypic females.
S Iqbal
doaj   +1 more source

Gonablastoma bilateral en disgenesia gonadal pura o síndrome de swyer

open access: yesRepertorio de Medicina y Cirugía, 2014
La disgenesia gonadal pura o síndrome de Swyer es un trastorno genético de los cromosomas sexuales caracterizado por ser pacientes de fenotipo femenino pero con genotipo XY, ausencia de tejido gonadal funcional que impide la formación de la hormona ...
Cristian J. Pérez   +3 more
doaj   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

open access: yesAndrology, Volume 14, Issue 7, Page 1906-1928, October 2026.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede   +11 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George   +11 more
wiley   +1 more source

Benign cystic Teratoma and Gonadoblastoma developed in bilateral abdominal undescended testis

open access: yesUrology Case Reports, 2022
Cryptorchidism is one of the most common congenital malformations in humans and one of its most important consequences is the development of testicular cancer.
Hormoz Karami   +2 more
doaj   +1 more source

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