7 ফলাফল
BACKGROUND
Müllerian duct development depends on gene and hormone interactions. Female Wnt4-knockout mice lack müllerian ducts and are virilized due to the inappropriate expression of the enzymes required for androgen production (normally repressed in female ovary). The WNT4 mutation was recently
Hypergonadotropic hypogonadism is characterized by decreased gonadal function due to the inability of the gonads to respond to pituitary gonadotropins. Hypergonadotropic hypogonadism in females has many causes, among which are ovarian dysgenesis and abnormalities of the ovarian receptors for the
UNASSIGNED
Mutations in the kisspeptin receptor (KISS1R) gene have been reported in a few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).
UNASSIGNED
To describe a female patient with nCHH and a novel homozygous KISS1R mutation and to assess the role of
Androgen insensitivity syndrome (AIS) is a rare X-linked disorder, caused by mutations in the androgen receptor gene (AR), associated with a variety of phenotypes in 46,XY individuals. We studied two 23 year-old twin-sisters with female social sex referred due to primary amenorrhea, who exhibited
Mutations in the CYP17 gene impair steroid biosynthesis in the adrenals and gonads, resulting in 17alpha-hydroxylase/17,20-lyase (P450c17) deficiency, leading to amenorrhea, sexual infantilism, hypokalemia, and hypertension. To date, more than 50 mutations in the CYP17 gene associated with
BACKGROUND
Androgen insensitivity syndrome is an X-linked disorder of male sexual differentiation caused by mutations in the androgen receptor gene and resulting in a wide range of phenotypes.
OBJECTIVE
To study the androgen receptor gene in two cousins with androgen insensitivity
Mutations of androgen receptor (AR) are the most frequent cause of 46, XY disorders of sex development and associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome (CAIS)) to milder degrees of undervirilization (partial form or PAIS) or men