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The underlying cause is due to the defective migration of GNRH neurons from olfactory placode to hypothalamus, leading to congenital GNRH deficiency. This leads to olfactory problems such as anosmia, optic defects like color blindness, and results in hypothalmic deficiencies associated with low levels of LH, affecting sex hormone testosterone in males or estrogen and progesterone in females.
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
Men with low serum testosterone levels should have other hormones checked, particularly luteinizing hormone to help determine why their testosterone levels are low and help choose the most appropriate treatment (most notably, testosterone is usually not appropriate for secondary or tertiary forms of male hypogonadism, in which the LH levels are ...
During puberty and adulthood, low testosterone levels with increased levels of the pituitary hormones FSH and LH in the blood can indicate the presence of Klinefelter syndrome. A spermiogram can also be part of the further investigation. Often, an azoospermia is present, or rarely an oligospermia. [15]
The initial endocrine evaluation includes testing for levels of TSH and free T4, prolactin, LH, FSH, estradiol (E2), and anti-Müllerian hormone (AMH). [9] FHA patients may display a combination of the following: FSH concentrations that are normal but lower than LH levels, low or low normal LH, E2 <50 pg/mL, and progesterone <1 ng/mL. [6]
In the female, the goal for gonadotropin therapy is to obtain ovulation. This is obtained with FSH treatment followed by hCG or LH to trigger ovulation. FSH will stimulate granulosa cells for follicular maturation while LH will act on luteal cells to produce steroids aiding follicular maturation and preparing the endometrium for pregnancy.
FSH levels in this time is often called basal FSH levels, to distinguish from the increased levels when approaching ovulation. [17] FSH is measured in international units (IU). For Human Urinary FSH, one IU is defined as the amount of FSH that has an activity corresponding to 0.11388 mg of pure Human Urinary FSH. [18]
[49] [50] Hormone levels are similar to those of males, including high testosterone levels and relatively low estradiol levels. [49] [50] However, luteinizing hormone (LH) levels are elevated while sex hormone-binding globulin (SHBG) levels are more consistent with those of females.