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Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. [1] To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell.
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 ...
Hypogonadism resulting from hypothalamic or pituitary defects is termed hypogonadotropic hypogonadism (HH), secondary hypogonadism, or central hypogonadism (referring to the central nervous system). [3] Examples of hypothalamic defects include Kallmann syndrome. Examples of pituitary defects include hypopituitarism and pituitary hypoplasia.
As women with FHA work to correct energy balance, especially female athletes and those recovering from eating disorder, recovery from hypogonadotropic hypogonadism may occur in a series of phases; there can be stages where the luteal phase is inadequate or may display lower sex steroid and gonadotropin levels for many years. [9]
Androgen deficiency most commonly affects women, and is also called Female androgen insufficiency syndrome (FAIS), although it can happen in both sexes. [ 2 ] [ 3 ] Androgenic activity is mediated by androgens (a class of steroid hormones with varying affinities for the androgen receptor ), and is dependent on various factors including androgen ...
The fertile eunuch syndrome or Pasqualini syndrome is a cause of hypogonadotropic hypogonadism caused by a luteinizing hormone deficiency. [1] It is characterized by hypogonadism with spermatogenesis. [2] Pasqualini and Bur published the first case of eunuchoidism with preserved spermatogenesis in 1950 in la Revista de la Asociación Médica ...
Isolated hypogonadotropic hypogonadism (IHH), also called idiopathic or congenital hypogonadotropic hypogonadism (CHH), as well as isolated or congenital gonadotropin-releasing hormone deficiency (IGD), is a condition which results in a small subset of cases of hypogonadotropic hypogonadism (HH) due to deficiency in or insensitivity to gonadotropin-releasing hormone (GnRH) where the function ...
Diagnosis is usually made between birth and puberty. Pseudovaginal perineoscrotal hypospadias presenting with female-appearing genitalia and pubertal virilization is the classical syndrome attributed to 5αR2D, but modern diagnostic methods can diagnose the deficiency shortly after birth and recognize the broad spectrum of presentation. [3]
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