Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

46, XX testicular disorder of sex development (DSD): a case report and systematic review

M Terribile, M Stizzo, C Manfredi, C Quattrone… - Medicina, 2019 - mdpi.com
Background and objectives: XX male syndrome is part of the disorders of sex development
(DSD). The patients generally have normal external genitalia and discover their pathology in …

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …

Single-cell-resolution transcriptome map revealed novel genes involved in testicular germ cell progression and somatic cells specification in Chinese tongue sole with …

HY Wang, X Liu, JY Chen, Y Huang, Y Lu, F Tan… - Science China Life …, 2023 - Springer
Female-to-male sex reversals (pseudomales) are common in lower vertebrates and have
been found in natural populations, which is a concern under rapid changes in environmental …

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

KL Ayers, S Eggers, BN Rollo, KR Smith… - Nature …, 2023 - nature.com
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 …

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

QY Wu, N Li, WW Li, TF Li, C Zhang, YX Cui, XY Xia… - BMC urology, 2014 - Springer
Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …

Molecular characterization of XX maleness

RP Grinspon, RA Rey - International Journal of Molecular Sciences, 2019 - mdpi.com
Androgens and anti-Müllerian hormone (AMH), secreted by the foetal testis, are responsible
for the development of male reproductive organs and the regression of female anlagen …

Male hypogonadism and disorders of sex development

RP Grinspon, I Bergadá, RA Rey - Frontiers in Endocrinology, 2020 - frontiersin.org
Disorders of Sex Development (DSD) are congenital anomalies in which there is a
discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex …

The genetics of disorders of sex development in humans

T Ohnesorg, E Vilain, AH Sinclair - Sexual Development, 2014 - karger.com
One of the defining events during human embryonic development with the most far-reaching
effects for the individual is whether the embryo develops as male or female. The crucial step …

The role of copy number variants in disorders of sex development

B Croft, T Ohnesorg, AH Sinclair - Sexual Development, 2018 - karger.com
Despite considerable research effort and significant advances in sequencing technologies,
the majority of disorders of sex development (DSD) cases still lack a molecular genetic …