Androgen insensitivity syndrome primary prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]: Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]
Overview
Currently there are no established methods to prevent androgen insensitivity syndrome (AIS). However, various treatment options may help manage the symptoms of AIS. Genetic counseling is advisable for parents as well as the affected individuals. The use of preimplantation genetic screening, noninvasive prenatal screening and ultrasonography and laparoscopic surgery may help identify, prevent or rectify accordingly.
Primary Prevention
- Currently there are no established methods to prevent androgen insensitivity syndrome (AIS). However, various preventive measures and treatment options may help manage the symptoms of AIS.
- Early diagnosis of CAIS (complete androgen insensitivity syndrome) is plays a major role for: [1]
- Appropriate scheduling of gonadectomy
- Parental counselling to help deal with long term issues such as:
- Hormone replacement therapy
- Fertility
- To prevent the transmission of the mutated X chromosome to the future generations and to have a normal child by prenatal diagnosis, the following are advised: [1]
- Genetic counselling
- Carrier testing
- Pedigree analysis
- Genetic counselling is advisable for both parents as well as the affected individuals.
- The efficacy of androgen therapy in preventing manifestations such as gynecomastia is not clear. [2]
- Androgen-insensitivity syndrome (AIS) (Testicular feminisation or Morris syndrome) is characterised by external female genitalia and bilateral testes with a normal male karyotype. This kind of syndrome is transmitted recessively. Presence of hypoplastic and short “pseudo-vagina” is one of the characteristics of this syndrome. Antenatal diagnosis laparoscopic management may be helpful in certain conditions. [3]
- When used widespread, the discordance among prenatal testing modalities such as preimplantation genetic screening, noninvasive prenatal screening, and ultrasonography will become more common requiring expert navigation to identify true pathology. [4]
Genetic counselling
When a woman is diagnosed with CAIS or PAIS (partial androgen insensitivity syndrome), referral to a genetic counselor may be warranted to explain the implications of the X-linked recessive inheritance.
- The mother of the woman with AIS is likely to be an unaffected carrier of the gene on one of her X chromosomes.
- A mother who carries the defect will, on average, pass it to 50% of her children, whether XX or XY. Those who are XX will be similarly unaffected carriers who can pass it to succeeding generations. Those who are XY will have the condition but, being infertile, cannot pass it.
- If the family is large, other members can be found who have or carry AIS. Many women with AIS will be able to identify affected maternal relatives such as aunts or great aunts.
- Carrier detection by gene testing is now possible.
- A small percentage of new cases of AIS are due to new, spontaneous mutations.
References
- ↑ 1.0 1.1 Konar S, Dasgupta D, Patra DK, De A, Mallick B (2015). "Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome". J Clin Diagn Res. 9 (4): GD01–3. doi:10.7860/JCDR/2015/11411.5750. PMC 4437084. PMID 26023570.
- ↑ Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Ledbetter N, Mefford HC, Smith R, Stephens K, Gottlieb B, Trifiro MA. PMID 20301602. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ Lima M, Libri M, Morabito A, Lauro V, Tani G, Dòmini M (2001). "Antenatal diagnosis and early laparoscopic treatment of a rare variation of androgen-insensitivity syndrome". Eur J Pediatr Surg. 11 (6): 422–4. doi:10.1055/s-2001-19719. PMID 11807675.
- ↑ Franasiak JM, Yao X, Ashkinadze E, Rosen T, Scott RT (2015). "Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis". Obstet Gynecol. 125 (2): 383–6. doi:10.1097/AOG.0000000000000503. PMID 25569013.