Results 71 to 80 of about 1,174,652 (161)
Non-Syndromic 46,XY Disorders of Sex Development
, 2018 Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Banovcin P, Gecz J, Breza J
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Profile of DHX37 gene defects in human genetic diseases: 46,XY disorders of sex development
Frontiers in EndocrinologyThe RNA helicase DHX37 gene is involved in ribosomal biological processes, and linked to human genetic diseases associated with 46,XY disorders of sex development (46,XY DSD) or neurodevelopment. Recently, relevant reports have primarily focused on 46,XY
Huifang Peng +6 more
doaj +1 more source
BMC Endocrine Disorders, 2017 Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Robert Röhle +10 more
doaj +1 more source
SmartBot, Volume 2, Issue 1, March 2026.DNA machinery represents a burgeoning frontier at the intersection of robotics and nanotechnology, evolving from static nanostructure toward dynamic nanorobots. Here, the authors review the comprehensive research pipeline of designer DNA‐based nanomachines, covering the design, analysis, and fabrication. These programmable systems enable transformative
Yiquan An +5 more
wiley +1 more source
, 2019 45,X/46,XY gonadal dysgenesis occurs in around 1.5/10,000 conceptions. The clinical phenotype is highly variable; and features of Turner syndrome may be found to a variable extent in both males and females with this condition.
Cools, Martine, Martine Cools
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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
Advanced Science, Volume 13, Issue 9, 13 February 2026.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li +22 more
wiley +1 more source
, 2013 aAll mutations are heterozygous except for c.877G>A (p.D293N).46, XY DSD: 46, XY disorder of sex development; PA: primary amenorrhea; SA: secondary amenorrhea; LBD: ligand binding domain.
Xue Jiao (461117) +7 more
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Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? [PDF]
, 2018 SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only.
Audí, Laura +9 more
core +1 more source
, 2023 Objective: To analyze aspects of sexual life and fertility desire among 46, XY DSD people, including those who changed their gender. Methods: It is a cross-sectional study including 127 adults (> 16 years of age) with 46, XY DSD (83 ...
Rafael Loch Batista +17 more
core +1 more source