Molecular Biology Reports, 2019 Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly ...
Mary García-Acero +9 more
semanticscholar +1 more source
Genomic analysis of P elements in natural populations of Drosophila melanogaster [PDF]
PeerJ, 2017 The Drosophila melanogaster P transposable element provides one of the best cases of horizontal transfer of a mobile DNA sequence in eukaryotes. Invasion of natural populations by the P element has led to a syndrome of phenotypes known as P-M hybrid ...
Casey M. Bergman +4 more
doaj +2 more sources
Gonadal dysgenesis and tumors: genetic and clinical features [PDF]
, 2005 Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers.
Bianco, Bianca Alves Vieira +2 more
core +2 more sources
Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders [PDF]
, 2016 The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family.
Calvo, Andres +5 more
core +1 more source
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 [PDF]
, 2015 Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or ...
Bahlo, M. (Melanie) +9 more
core +1 more source
Management issues in mixed gonadal dysgenesis (45,X/46,XY mosaicism)
Journal of Medical and Scientific Research, 2015 Mixed gonadal dysgenesis (45X/46XY and its variants) is a form of sex chromosome DSD (disorders of sex development). The clinical presentation of such patients is highly variable and mild variants may go unnoticed.
Babulreddy +4 more
doaj +1 more source
Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys [PDF]
, 2014 In early fetal development, the testis secretes – independent of pituitary gonadotropins – androgens and anti-Müllerian hormone (AMH) that are essential for male sex differentiation. In the second half of fetal life, the hypothalamic–pituitary axis gains
Ambao, Veronica Ana +12 more
core +2 more sources
Classical gonadoblastoma: its relationship to the “dissecting” variant and undifferentiated gonadal tissue [PDF]
, 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.
Cheng, Liang, Roth, Lawrence M.
core +1 more source
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome [PDF]
, 2016 Background: The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.
Chong, C.E. +5 more
core +2 more sources
Nature Communications, 2023 Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome.
Katie L. Ayers +42 more
doaj +1 more source