STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …

Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …

© 2015 Macmillan Publishers Limited. All rights reserved ducts, one of which can form the
uterus and Fallopian tubes, and the other the male internal genital plumbing: the …

Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …

Hypospadias results from a failure of urethral closure in the male phallus and affects 1 in
200-300 boys. It is thought to be due to a combination of genetic and environmental factors …

Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

The differential diagnosis of differences or disorders of sex development (DSD) belongs to
the most complex fields in medicine. It requires a multidisciplinary team conducting a …

Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …

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 …

Context The genetic basis of human sex development is slowly being elucidated, and> 40
different genetic causes of differences (or disorders) of sex development (DSDs) have now …