Testicular differentiation in 46, XX DSD: an overview of genetic causes

MTM Ferrari, ESN Silva, MY Nishi, RL Batista… - Frontiers in …, 2024 - frontiersin.org
In mammals, the development of male or female gonads from fetal bipotential gonads
depends on intricate genetic networks. Changes in dosage or temporal expression of sex …

Monogenic forms of male infertility

C Krausz, A Riera-Escamilla - Genetics of Endocrine Diseases and …, 2019 - Springer
Male infertility is a multifactorial and heterogeneous pathological condition affecting 7% of
the general male population. The genetic landscape of male infertility is highly complex as …

Overview of genetics of disorders of sexual development

D Rodriguez-Buritica - Current opinion in pediatrics, 2015 - journals.lww.com
Overview of genetics of disorders of sexual development : Current Opinion in Pediatrics
Overview of genetics of disorders of sexual development : Current Opinion in Pediatrics Log …

Clinical and gonadal transcriptome analysis of 38, XX disorder of sex development pigs

J Wu, S Tan, Y Zhou, H Zhao, H Yu… - Biology of …, 2024 - academic.oup.com
Pigs serve as a robust animal model for the study of human diseases, notably in the context
of disorders of sex development (DSD). This study aims to investigate the phenotypic …

Prenatal diagnosis of 46, XX testicular disorder of sex development with SRY-positive: A case report and review of the literature

H Shen, Y Liu, C Wang, R Wang, Z Di, X Huang… - European Journal of …, 2023 - Elsevier
We report a case of a fetus with 46, XX testicular disorder of sex development detected
prenatally. This fetus was found abnormally due to non‐invasive prenatal testing …

46, XX males: a case series based on clinical and genetics evaluation

F Mohammadpour Lashkari, M Totonchi… - Andrologia, 2017 - Wiley Online Library
Summary 46, XX male sex reversal syndrome is one of the rarest sex chromosomal
aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent …

Prenatal diagnosis of sex chromosome abnormalities

JM Milunsky - Genetic disorders and the fetus: Diagnosis …, 2015 - Wiley Online Library
Prenatal diagnosis of a sex chromosome abnormality (SCA) may sometimes be suspected
with particular ultrasound abnormalities, but more often it is unexpected. Although many …

[HTML][HTML] Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

SR Lee, TH Lee, SH Song, DS Kim… - Clinical and …, 2021 - ncbi.nlm.nih.gov
A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30%
of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility …

[HTML][HTML] Prenatal diagnosis of a 46, XX male following noninvasive prenatal testing

N Mansfield, T Boogert, A McLennan - Clinical Case Reports, 2015 - ncbi.nlm.nih.gov
Materials and Methods High-molecular weight DNA was extracted from 15 mL of amniotic
fluid, using the Promega Wizard Genomic DNA Purification Kit (Madison, WI, USA). A …

Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations …

C Politi, K Grillone, D Nocera, E Colao, ML Bellisario… - Genes, 2024 - mdpi.com
The translocation of the testis-determining factor, the SRY gene, from the Y to the X
chromosome is a rare event that causes abnormalities in gonadal development. In all cases …