What is Androgen Insensitivity Syndrome?
In This Article
Complete androgen insensitivity syndrome is a major malady that hinders the ideal development of the sexual reproductive system. The disease may express itself in the early stages of development in women. Women ailing from this disorder ought to seek medical attention early enough before it develops to more adverse complications.
Female patients suffering from the same are advised to seek medical attention during the initial stages of life. This prompts the removal of their reproductive organs before or after the onset of puberty. This is followed by a streamlined process of hormonal balancing and alteration to aid the patients in adapting the desired sexual characteristics.
Hormone replacement therapy
Estrogens are commonly used in the correction procedures aimed at promoting the wellbeing of patients, be it physically or mentally. However, additional doses and prescriptions may be incorporated in the event of multicentric instances.
Hormonal therapy kicks off with the administering of testosterone, but this practice is majorly circumstantial and not guaranteed. Management of the bones among patients remains a crucial part in the healing process of persons suffering from androgen insensitivity syndrome.
Management of the ailment involves two vital processes. These include hormone replacement therapy which is followed suit by psychological help for the affected parties.
Hormone replacement therapy is the primary most step taken in an attempt to turn the ailment around. Most forms of androgen insensitivity syndrome call for the removal of the sexual organs at one point of the healing and correction process. However, in the case of mature and elderly patients, hormone replacement is mandatory.
Hormone replacement therapy kicks off with estrogen replacement. It is the belief of many that female patients of the condition do not need progesterone as they have no womb. It is also evident that incorporating progesterone therapy together with estrogen replacement reduces the inherent danger of contracting breast cancer. However, the evidence is highly circumstantial and prone to questioning.
Cutting edge research has proved that patients with no uterus need not take doses of progesterone as it has minimal to nil effects. Hormonal therapy starts with administering a small dose of estrogen, which is increases gradually as age advances. Progesterone is only administered when necessary.
In the case of partial presentation, traditional therapy may be applicable. The presentation could be such that it affects patients with a male genetic identity, which prompts the introduction of testosterone and dihydrotestosterone (DHT). DHT is preferred as it is not antagonistic with estrogen. Regardless of its suitability, this therapy is only used as per the condition at hand but with no specific dosages. The kind of therapy to be adopted depends on the severity of the condition and the kind of genes affected by the ailment.
You can begin treatment for androgen insensitivity syndrome at TRT Medical Center. A multifaceted approach in treatment of the disorder may be required to ensure effective treatment of the syndrome.
Psychological support is the most vital aspect of help that patients with androgen insensitivity syndrome call for. This support needs to be extended to the entire family of the victim so that they can be better placed to cater for their sibling.
Parents undergo counseling so that they can readily note any changes in the child’s condition, which reduce the chances of the condition to recur. Pediatric psychologists often help parents on the approach to take in informing their affected kids of their medical condition as they advance with age. Such support is crucial if at all the child is to adapt to a normal life as he or she reaches the adolescent stage.
The prevalence of this condition has prompted research to be done so that medical specialists can have an insight into the ailment. This proved that majority of the mature women suffering from the condition often suffer from obesity.
However, despite the fact that majority of the American women are overweight, the condition is more expressed among those who ail with androgen insensitivity syndrome. A significant number of these women also suffer from complications that come up as a result of poor bone formation and structure. These symptoms are therefore unclear if they are as a result of the androgen insensitivity or due to the replenishment of estrogen.
Over 70% of the women who suffered from the condition underwent removal of the gonads and vaginoplasty in the early stages of life while they were still unaware of their medical conditions. Counseling has helped improve their psychological and social status as life proceeds.
Individual Patient Case Studies
A 16 year old male is referred to a clinic having bilateral breast enlargement or gynecomastia. The patient underwent surgery when aged 1 year because he was born with hypospadias. The pubertal development of the patient was normal but there was enlargement of both breasts. Pubic hairs were also observed. The volume of testes was detected at 15mL and the patient had a micropenis.
The patient did not have complaints on decreased libido or difficulties ejaculating or erecting, but the severity of gynecomastia caused him to withdraw. Therefore, the patient avoided social and outdoor activities. The patient had partial AIS and a mammoplasty was performed.1
A 23 year old patient had the imaging studies not showing Mullerian structures. Laparoscopy performed on two occasions did not detect vestiges or female sexual organs on the patient. A hormonal study showed that there were low levels of testosterone and estrogens. 46,XY karyotype was identified. The patient continued to be raised and treated as a feminine and therefore breast implants were given. A vaginoplasty was also performed.2
A 16 year old having female habitus, voice, and typical intellectual function is send to a hospital. Physical examination finds that the patients has poor body hair, adipose tissue is well represented, and has hypotrophic breasts. After a hormone replacement therapy, there appears to be no changes in the patient regarding to primary amenorrhea.
Further examinations are conducted and it is found out that there is absence of uterus. The studies also show that there is absence of ovarian structures where they are located or found and a 46,XY karyotype is determined. This patient had a complete androgen insensitivity syndrome and a hormone replacement therapy was advised.3
The complete insensitivity of androgens is a vital ailment in the ordinary development of the sexual organs. Though not properly expressed and documented, the condition is not one to be left out or one to shy from. Studies and research are ongoing to thoroughly document and understand the ailment.
- Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia. Available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4508269/
- Complete androgen insensitivity syndrome: a case report and surgical management illustration. Available at http://www.revistamexicanadeurologia.com/Revistas/2014/ingles/March-April/12%20CC%20SINDROME%20DE%20INSENSIBILIDAD.pdf
- Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development. Available at https://www.hindawi.com/journals/criog/2013/232696/