Novel concepts in the aetiology of male reproductive impairment

H Tournaye, C Krausz, RD Oates - The lancet Diabetes & …, 2017 - thelancet.com
Infertility is a widespread problem and a male contribution is involved in 20–70% of affected
couples. As a man's fertility relies on the quantity and quality of his sperm, semen analysis is …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Role of genetics and epigenetics in male infertility

S Gunes, SC Esteves - Andrologia, 2021 - Wiley Online Library
Male infertility is a complex condition with a strong genetic and epigenetic background. This
review discusses the importance of genetic and epigenetic factors in the pathophysiology of …

Disorders of sex development in a large Ukrainian cohort: clinical diversity and genetic findings

E Globa, N Zelinska, Y Shcherbak… - Frontiers in …, 2022 - frontiersin.org
Background The clinical profile and genetics of individuals with Disorders/Differences of Sex
Development (DSD) has not been reported in Ukraine. Materials and Methods We …

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 …

[HTML][HTML] Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study

J Słowikowska-Hilczer, AL Hirschberg… - Fertility and sterility, 2017 - Elsevier
Objective To investigate fertility outcome in individuals with different forms of disorders of sex
development (DSD), if assisted reproductive technology (ART) was used, and the patients' …

46 XX karyotype during male fertility evaluation; case series and literature review

A Majzoub, M Arafa, C Starks, H Elbardisi… - Asian journal of …, 2017 - journals.lww.com
Forty-six XX disorder of sex development is an uncommon medical condition observed at
times during the evaluation of a man's fertility. The following is a case series and literature …

[HTML][HTML] Controversies on timing of sex assignment and surgery in individuals with disorders of sex development: a perspective

TP Hemesath, LCP de Paula, CG Carvalho… - Frontiers in …, 2019 - frontiersin.org
Appropriate management of disorders of sex development (DSD) has been a matter of
discussion since the first guidelines were published in the 1950s. In the last decade, with the …

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature

TF Li, QY Wu, C Zhang, WW Li, Q Zhou, WJ Jiang… - BMC urology, 2014 - Springer
Background 46, XX testicular disorder of sex development is a rare genetic syndrome,
characterized by a complete or partial mismatch between genetic sex and phenotypic sex …

Approach to the infant with a suspected disorder of sex development

DK Wherrett - Pediatric Clinics, 2015 - pediatric.theclinics.com
A request to see a newborn with genital ambiguity is an uncommon experience in the career
of most pediatricians. However, when including the full range of disorders of sex …