Inactivating mutations of the FSH receptor (FSHR) are known to cause ovarian failure with
amenorrhea and infertility in women. The first mutation identified in the FSHR gene was a …

Context: Inactivating FSH receptor (FSHR) mutations can affect ovarian function, resulting in
variable clinical presentations ranging from primary amenorrhea to premature menopause …

BACKGROUND: Inactivating mutations of the FSH receptor (FSHR) are a rare cause of
hypergonadotrophic hypogonadism in women. Only one patient with primary amenorrhoea …

Premature ovarian failure occurs in almost 1% of women under age 40. Molecular
alterations of the FSH receptor (FSHR) have recently been described. A first homozygous …

Context Mutations of the FSH β gene, causing in women isolated FSH deficiency and
hypogonadism, are very rare and only a few have been described. Objective To describe the …

A variety of mutations and polymorphisms of genes regulating female and male reproductive
functions have been discovered during the last few years. These include several inactivating …

The follicle-stimulating hormone (FSH) is essential for normal gametogenesis. In females
FSH is required for ovarian development and follicle maturation whereas in males FSH …

The FSH receptor (FSHR) gene mutation are rare, but recently have been detected in
several cases with primary amenorrhea. We report a 25-year-old female who had primary …

Objective To identify the potential FSHR mutation in a Chinese woman with primary ovarian
insufficiency (POI). Design Genetic and functional studies. Setting University-based …

Objective: To study the gonadal steroid responses to FSH and hCG in individuals with the
inherited Finnish-type inactivating Ala189Val mutation of the FSH receptor gene. Design …