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 …

Abstract An Ala189Val mutation of the human FSH receptor (FSHR) has been found to
cause hypergonadotrophic ovarian failure with arrest of follicular maturation in women, and …

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 portion of chromosome 2, including the gene codifying the receptor of FSH (FSHR
gene), can display point mutations that cause variations in the amino acid sequence of the …

A single natural loss of function mutation of the follicle stimulating hormone receptor (FSHR)
has been described to date. Present in the Finnish population it markedly impairs receptor …

In a search for pathophysiological causes of idiopathic male infertility we investigated the
occurrence of mutations of the FSH receptor in 48 men with this disorder. The entire FSH …

In contrast to the general contention, infertility can be an inherited condition. Some of the
genetic causes of male and female infertility have turned out to be due to inactivating …

Manipulations of mouse genome have helped to elucidate gonadotrophin function but
important differences subsist between rodent and human reproduction. Studies of patients …

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 …

The pituitary gonadotropin follicle stimulating hormone (FSH) interacts with its membrane-
bound receptor, to produce biologic effects. Traditional functions of FSH include, follicular …