There is a relatively broad spectrum of clinical signs and symptoms that can occur in , ranging from complete absence of sexual development to partial completion of puberty that does not subsequently progress. Of note, the X-linked form of Kallmann syndrome (KS) form of GnRH<unk>  relating to mutations in the ANOS1 gene has the most consistent severe phenotypic presentation (ie, prepubertal testes size and complete absence of<unk><unk><unk>  GnRH-induced luteinizing<unk>  LH pulsations during frequency sampling studies) of all of the genes associated with this condition. GnRH<unk>  can present at any age, but the presenting signs and symptoms are a function of the age-related period of reproductive activity. During the neonatal period, boys with the more severe cases of GnRH<unk>  can present with microphallus and/or cryptorchidism, presumably due to in utero and/or neonatal GnRH deficiency; approximately one-half of boys with microphallus have GnRH<unk>  as the underlying diagnosis. In comparison, newborn girls with GnRH<unk>  have no obvious abnormal reproductive tract findings that might provide clues to the diagnosis. However, in both sexes, other congenital nonreproductive features may be present (eg, midline facial defects, skeletal abnormalities). During childhood, since the hypothalamic GnRH-pituitary-gonadal axis is quiescent, a diagnosis of GnRH<unk>  can generally be heralded only in the presence of nonreproductive phenotypes (eg, the lack of sense of smell in some patients anosmia or skeletal abnormalities, such as cleft lip/cleft palate, hearing deficits, or syndactyly). At puberty, patients of both sexes can present with a complete form of GnRH<unk>  that is characterized by a failure to initiate sexual maturation (eg, lack of secondary sexual characteristics, primary amenorrhea in girls, lack of virilization in boys) and failure to establish a pubertal growth spurt. Some patients present with partial forms of GnRH<unk>  and undergo some degree of pubertal development that subsequently ceases. For example, some males with GnRH<unk>  exhibit some testicular growth, while some females can have thelarche and menarche, but hypogonadotropic hypogonadism (HH) is demonstrable soon thereafter. Extremely rarely, a few have completely normal pubertal development and adulthood gonadal function, only to develop HH with prepubertal levels of testosterone but sometimes with normal testicular size as a clue to its acquired status, ie, developing only after adult testicular development has been complete subsequently in adulthood, leading to infertility and sexual dysfunction. These patients are referred to as having the adult-onset or acquired form of GnRH<unk> .
Gonadotropin-releasing hormone insensitivity
Follicle-stimulating hormone insensitivity
Mild androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Kallmann syndrome
Complete androgen insensitivity syndrome
Adrenocorticotropic hormone deficiency
Androgen insensitivity syndrome