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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]
Hypogonadism resulting from defects of the gonads is referred to as hypergonadotropic hypogonadism or primary hypogonadism. Examples include Klinefelter syndrome and Turner syndrome . Mumps is known to cause testicular failure, and in recent years has been immunized against in the US.
Hypogonadotropic hypogonadism (HH), is due to problems with either the hypothalamus or pituitary gland affecting the hypothalamic-pituitary-gonadal axis (HPG axis). [1] Hypothalamic disorders result from a deficiency in the release of gonadotropic releasing hormone ( GnRH ), while pituitary gland disorders are due to a deficiency in the release ...
This results in the phenotype corresponding to the karyotype (46,XX for females and 46,XY for males). [5] Gonadal dysgenesis arises from a difference in signalling in this tightly regulated process during early foetal development. [6] [7] Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying causes. [7]
In females, diagnosis is sometimes further delayed as other causes of amenorrhoea normally have to be investigated first before a case of KS/CHH is considered. [38] Tanner scale-female. Diagnosis of KS/CHH normal involves a range of clinical, biochemical and radiological tests to exclude other conditions that can cause similar symptoms ...
In secondary hypogonadotropic hypogonadism, the resulting low levels of testosterone is attributed to inadequacies in the hypothalamic-pituitary-gonadal axis. In contrast, primary hypogonadism is caused by defects in the testes that causes them to be unable to produce the required amount of testosterone. [citation needed]
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. [1] Individuals with XX gonadal dysgenesis have normal-appearing external genitalia as well as Müllerian structures (e.g., cervix, vagina, uterus).
For example, the male mutation of the GnRH coding gene could result in hypogonadotrophic hypogonadism. A mutation that cause a gain of function for LH receptor can result in a condition known as testotoxicosis, which cause puberty to occur between ages 2–3 years. Loss of function of LH receptors can cause male pseudohermaphroditism.