Follicle-stimulating hormone insensitivity

Follicle-stimulating hormone insensitivity (FSH insensitivity), also known as ovarian insensitivity to FSH in females, is a rare autosomal recessive genetic and endocrine syndrome affecting both females and males, though females typically experience more severe symptoms. This condition is characterized by a resistance or complete insensitivity to the effects of follicle-stimulating hormone (FSH), a gonadotropin responsible for stimulating estrogen production by the ovaries in females and maintaining fertility in both sexes.

Presentation

In females, FSH insensitivity manifests as hypergonadotropic hypogonadism, characterized by decreased or lack of production of sex steroids by the gonads despite high circulating levels of gonadotropins. This leads to reduced or absent puberty, amenorrhea (lack of menstruation), and infertility. Males with FSH insensitivity typically experience varying degrees of infertility and may present with decreased sperm production.

Related Condition

A related condition, luteinizing hormone (LH) insensitivity, presents with similar symptoms but with reversals in symptomatology between sexes. Males with LH insensitivity may present with hypogonadism and sexual infantilism, while females may experience problems with fertility. Males with LH insensitivity may also present with feminized or ambiguous genitalia, a feature not observed in females with FSH insensitivity.

Signs

In females with FSH insensitivity, ovarian follicles and granulosa cells exhibit diminished development, resulting in low to normal estrogen levels, elevated gonadotropin levels, and reduced inhibin B levels. Males may show diminished Sertoli cell proliferation, moderately elevated FSH levels, normal to slightly elevated LH levels, normal testosterone levels, and reduced inhibin B levels.

Symptoms

In females, FSH insensitivity presents as hypergonadotropic hypogonadism, leading to delayed, reduced, or absent puberty, sexual infantilism, reduced uterine volume, and osteoporosis. Ovarian dysgenesis or failure may result in amenorrhea, infertility, and normal to slightly enlarged ovaries. Males may experience partial or complete infertility, reduced testicular volume, and oligozoospermia (reduced spermatogenesis).

Cause

FSH insensitivity is caused by inactivating mutations of the follicle-stimulating hormone receptor (FSHR), resulting in insensitivity of the receptor to FSH. This leads to an inability of granulosa cells in ovarian follicles to respond to FSH in females, resulting in diminished estrogen production and menstrual irregularities, and an inability of Sertoli cells in the testicles to respond to FSH in males, leading to impaired spermatogenesis.

Diagnosis

The diagnosis of FSH insensitivity involves clinical evaluation and genetic testing to identify mutations in the FSHR gene. However, this section requires expansion.

Treatment

Hormone replacement therapy with estrogen may be used to alleviate symptoms of hypoestrogenism in females. Currently, there are no known treatments for infertility caused by FSH insensitivity in either sex. Further research is needed to explore potential therapeutic options. This template is no longer used; please see Template:Endocrine pathology for a suitable replacement

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