What is the definition of Partial Androgen Insensitivity Syndrome?

Partial androgen insensitivity syndrome (PAIS) is a disease that occurs in children when their body can't respond the right way to the male sex hormones (androgens). Testosterone is a male sex hormone.

This disorder is a type of androgen insensitivity syndrome.

What are the alternative names for Partial Androgen Insensitivity Syndrome?

PAIS; Androgen insensitivity syndrome - partial; Incomplete testicular feminization; Type I familial incomplete male pseudohermaphroditism; Lubs syndrome; Reifenstein syndrome; Rosewater syndrome

What are the causes for Partial Androgen Insensitivity Syndrome?

 In the first 2 to 3 months of pregnancy, all babies have the same genitals. As a baby grows inside the womb, male or female genitals develop depending on the pair of sex chromosomes from the parents. It also depends on the levels of androgens. In a baby with XY chromosomes, high levels of androgens are made in the testes. This baby will develop male genitals. In a baby with XX chromosomes, there are no testes and the levels of androgens are very low. This baby will develop female genitals. In PAIS, there is a change in the gene that helps the body recognize and use male hormones properly. This leads to problems with the development of the male sex organs. At birth, the baby may have ambiguous genitals, which leads to confusion over the baby's sex.

The syndrome is passed down through families (inherited). People with two X chromosomes are not affected if only one copy of the X chromosome carries the genetic mutation. Males who inherit the gene from their mothers will have the condition. There is a 50% chance that a male child of a mother with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors of PAIS.

The syndrome is passed down through families (inherited). People with two X chromosomes are not affected if only one copy of the X chromosome carries the genetic mutation. Males who inherit the gene from their mothers will have the condition. There is a 50% chance that a male child of a mother with the gene will be affected. Every female child has a 50% chance of carrying the gene. Family history is important in determining risk factors of PAIS.

What are the symptoms for Partial Androgen Insensitivity Syndrome?

People with PAIS may have both male and female physical characteristics. These may include:

  • Abnormal male genitals, such as the urethra being on the underside of the penis, small penis, small scrotum (with a line down the middle or incompletely closed), or undescended testicles.
  • Breast development in males at time of puberty. Decreased body hair and beard, but normal pubic and armpit hair.
  • Sexual dysfunction and infertility.

What are the current treatments for Partial Androgen Insensitivity Syndrome?

Infants with PAIS may be assigned a gender depending on the extent of genital ambiguity. However, gender assignment is a complex issue and must be considered carefully. Possible treatments for PAIS include:

  • For those assigned as males, surgery may be done to reduce breasts, repair undescended testicles, or reshape the penis. They may also receive androgens to help facial hair grow and deepen the voice.
  • For those assigned as females, surgery may be done to remove the testicles and reshape the genitals. The female hormone estrogen is then given during puberty.

What are the support groups for Partial Androgen Insensitivity Syndrome?

The following groups can provide more information on PAIS:

  • Intersex Society of North America -- www.isna.org/faq/conditions/pais
  • NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome

What is the outlook (prognosis) for Partial Androgen Insensitivity Syndrome?

Androgens are most important during early development in the womb. People with PAIS can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals or an extremely small penis may have psychological or emotional problems.

Children with PAIS and their parents may benefit from counseling and receiving care from a health care team that includes different specialists.

When should I contact a medical professional for Partial Androgen Insensitivity Syndrome?

Call your provider if you, your son, or a male family member has infertility or incomplete development of male genitals. Genetic testing and counseling are recommended if PAIS is suspected.

How do I prevent Partial Androgen Insensitivity Syndrome?

Prenatal testing is available. People with a family history of PAIS should consider genetic counseling.

Male

REFERENCES

Achermann JC, Hughes IA. Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. Philadelphia, PA: Elsevier; 2016:chap 23.

Shnorhavorian M, Fechner PY. Disorders of sexual differentiation. In: Gleason CA, Juul SE, eds. Avery's Diseases of the Newborn. 10th ed. Philadelphia, PA: Elsevier; 2018:chap 97.

  • Condition: Gonadal Germ Cell Cancer (GGCC)
  • Journal: Hormone research in paediatrics
  • Treatment Used: Gonadectomy
  • Number of Patients: 192
  • Published —
This study investigated the clinical outcome of performing a gonadectomy in those with high risk of GGCC due to partial or complete androgen insensitivity syndrome.
  • Condition: Complete androgen insensitivity syndrome
  • Journal: The lancet. Diabetes & endocrinology
  • Treatment Used: Oestrogen versus androgen
  • Number of Patients: 26
  • Published —
The aim of this study was to compare the effectiveness of hormone-replacement therapy with either androgen or oestrogen in women with complete androgen insensitivity syndrome.