Results 41 to 50 of about 1,949 (196)
Clinical Case Reports, Volume 14, Issue 7, July 2026.A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Harshita Agarwal +4 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 +3 more
doaj +1 more source
Turner mosaic syndrome with Y chromosome material: characteristics, diagnosis, and management
Frontiers in PediatricsObjectiveThis study investigated the clinical features and long-term outcomes of patients with Turner mosaic syndrome with Y chromosome material (TMSY), focusing on the prevalence of gonadoblastoma.MethodsClinical data of children with TMSY were ...
Tianyi Wang +6 more
doaj +1 more source
Y chromosome in Turner syndrome: review of the literature
São Paulo Medical JournalTurner 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 +5 more
doaj +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 +3 more
doaj +1 more source
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 +2 more
wiley +1 more source
Sertoli Cell Tumor With Benign Peritoneal Implants Associated With Gonadoblastoma
, 2010 We present a unique case of bilateral gonadoblastoma in a 23-year-old patient with Swyer syndrome. The gonadoblastoma on both sides underwent synchronous neoplastic transformation, into a stage I germinoma in the right streak gonad and a highly ...
Nogales FF +7 more
core +2 more sources
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis
The Turkish Journal of Pediatrics, 2016 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years.
Melikşah Keskin +6 more
doaj +1 more source
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 +6 more
wiley +1 more source
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 +4 more
doaj +1 more source