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Androgen Insensitivity Syndrome

A rare difference of sex development seen in 46 XY individuals due to complete or partial loss of androgen receptor function.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Androgen Insensitivity Syndrome?

Androgen insensitivity syndrome (AIS) is an X-linked recessive difference of sex development in which tissue response to androgens (testosterone, dihydrotestosterone) is fully or partially impaired due to mutations in the AR (androgen receptor) gene. It is seen in individuals with a 46 XY karyotype.

Complete form (CAIS): fully female external appearance; the vagina ends blindly, the uterus is absent; testes are intra-abdominal or in the groin; hair growth is markedly reduced. Partial form (PAIS): variable degrees of ambiguous genital development.

Diagnosis is made by karyotype, AR gene testing, and hormonal profile (high testosterone, high LH, normal-to-high estradiol). A multidisciplinary approach (endocrinology, urology, gynecology, psychiatry) is mandatory; gender identity and psychosocial support are integral parts of management.

Symptoms

Complete form: female external genitalia; primary amenorrhea
Mass palpable in the groin or abdomen (intra-abdominal testis)
Vaginal hypoplasia
Partial form: ambiguous genitalia, hypospadias
Adequate breast development at puberty (due to estrogen conversion) but no menses
Markedly sparse axillary and pubic hair

Risk Factors

Mother carrying an AR gene mutation
X-linked recessive inheritance (46 XY individuals affected)
Family history of difference of sex development

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • During evaluation of primary amenorrhea (especially with pubertal development but no menses)
  • When ambiguous genitalia are noted in a newborn
  • Unexplained groin mass or gonad found during hernia surgery
  • When karyotype and hormonal profile are discordant

Treatment Methods

01
Complete form: usually raised with female identity; timely removal of testes due to gonadoblastoma risk
02
Estrogen replacement after gonadectomy: for bone density and quality of life
03
Partial form: individualized gender assignment and surgical decisions (multidisciplinary ethical discussion)
04
Psychological support and family counseling
05
Genetic counseling
06
Vaginal dilation therapy or surgery may be needed (vaginal lengthening in complete form)

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.