Bilateral inguinal hernia.<unk>  is not usually suspected until after puberty unless an inguinal hernia presents.<unk>  can only be diagnosed in normal phenotypic females. It is not usually suspected unless the menses fail to develop at puberty, or an inguinal hernia presents during premenarche. As many as 1–2% of prepubertal girls that present with an inguinal hernia will also have<unk> . A diagnosis of<unk>  or Swyer syndrome can be made in utero by comparing a karyotype obtained by amniocentesis with the external genitalia of the fetus during a prenatal ultrasound. Many infants with<unk>  do not experience the normal, spontaneous neonatal testosterone surge, a fact which can be diagnostically exploited by obtaining baseline luteinizing hormone and testosterone measurements, followed by a human chorionic gonadotropin (hGC) stimulation test. The main differentials for<unk>  are<unk>  gonadal dysgenesis (Swyer syndrome) and Müllerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH). Both<unk>  and Swyer syndrome are associated with a 46,XY karyotype, whereas MRKH is not; MRKH can thus be ruled out by checking for the presence of a Y chromosome, which can be done either by fluorescence in situ hybridization (FISH) analysis or on full karyotype. Swyer syndrome is distinguished by the presence of a uterus, poor breast development and shorter stature. The diagnosis of<unk>  is confirmed when androgen receptor (AR) gene sequencing reveals a mutation, although up to 5% of individuals with<unk>  do not have an AR mutation. Up until the 1990s, a<unk>  diagnosis was often hidden from the affected individual, the individual's family, or both. It is current practice to disclose the genotype at the time of diagnosis, particularly when the affected girl is at least of adolescent age. If the affected individual is a child or infant, it is generally up to the parents, often in conjunction with a psychologist, to decide when to disclose the diagnosis.
Complete androgen insensitivity syndrome
Mild androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Androgen insensitivity syndrome
Estrogen insensitivity syndrome
Gonadotropin-releasing hormone insensitivity
Kallmann syndrome
Klinefelter syndrome