|Year : 2012 | Volume
| Issue : 2 | Page : 101-103
Androgen insensitivity syndrome in an Indian adult
Tulon Borah, Ranjan Kumar Mahanta
Department of Obstetrics and Gynecology, Vivekananda Kendra NRL Hospital, Numaligarh Refinery, Golaghat, Assam, India
|Date of Web Publication||7-Mar-2013|
Departments of Obstetrics and Gynecology, Vivekananda Kendra NRL Hospital, Numaligarh Refinery, Golaghat, Assam
Source of Support: None, Conflict of Interest: None
| Abstract|| |
In androgen insensitivity syndrome (AIS), the patients are phenotypically females with male karyotype. Affected persons present at puberty with primary amenorrhea with adequate breast development and normal external genitalia. The gonads may be found in lower abdomen, inguinal regions, or sometimes in the labia majora. Rarely, the testes may undergo malignant transformation. So, gonadectomy is indicated in these patients after they attain puberty. Here, we present a case of AIS with primary amenorrhea and bilateral inguinal swelling.
Keywords: Androgen insensitivity syndrome, gonadectomy, karyotyping, primary amenorrhea, testicular feminization syndrome
|How to cite this article:|
Borah T, Mahanta RK. Androgen insensitivity syndrome in an Indian adult
. Ann Nigerian Med 2012;6:101-3
| Introduction|| |
The incidence of androgen insensitivity syndrome (AIS) or testicular feminization syndrome is 1:20,000-64,000 male births.  In this syndrome, there is a failure of normal masculinization of the external genitalia in a chromosomally male individual. The aetiology of this syndrome lies in congenital insensitivity to androgens transmitted by means of a maternal X-linked recessive gene responsible for androgen intracellular receptors.  It accounts for approximately 10% of cases of primary amenorrhea, and this is the third most common cause of primary amenorrhea after gonadal dysgenesis and mullerian agenesis. 
| Case Report|| |
A 38-year-old unmarried woman presented to Vivekananda Kendra NRL Hospital, Assam, India, with a history of bilateral painful groin swelling for six months. She gave a history of primary amenorrhea for which she consulted a local physician 18 years back. At that point in time, she was also referred to a gynecologist and chromosomal study was carried out. In the chromosomal study, her karyotype was found to be 46 XY and therefore she was advised to have gonadectomy. She had refused surgery and stopped seeing her doctors.
She appeared healthy and had a feminine habitus with a height of 1.63 m and weighed 67 kg. She was not pale and had no sclera incterus. Her breasts were well developed. Her axillary hair was scanty. She had a pulse rate of 84 beats per minute and a blood pressure of 120/70 mmHg sitting. Her respiratory and central nervous systems were normal. No organomegaly or tenderness was elicited on abdominal examination. On examination of the status localis, there were firm slightly mobile, tender superficial lumps (3 × 2 cm) over both the groin areas. She had scanty pubic hair. The labiae were poorly developed with a very short vagina [estimated length = 3 cm] that ended blindly. Uterus and adnexae were not palpable on digital examination per rectum. Ultrasonography also revealed absence of uterus and ovaries. Fine needle aspiration cytology (FNAC) of the groin swelling revealed features suggestive of testicular tissue. On hormonal assay, luteinizing hormone, follicular stimulating hormone, estradiol, progesterone, and dehydroepiandrosterone sulfate were all found to be within normal limits.
Diagnostic laparoscopy was carried out next on the patient. The uterus, both fallopian tubes, and ovaries were absent from the pelvic cavity. Excision of the groin swelling was then performed by two seperate groin incisions while maintaining hemostasis [Figure 1]. Histopathology of the specimen showed normal testicular tissue without any malignant changes confirming the FNAC findings. Her postoperative period was quite uneventful and the patient was discharged subsequently and placed on oral estrogen tablets and regular follow-up.
| Discussion|| |
In 1953, John Morris provided the first full description of what he called "testicular feminization syndrome." The term "testicular feminization" was coined to reflect his observation that the testicles in these patients produced a hormone that had a feminizing effect on the body, a phenomenon that is now understood to be due to the inactivity of androgens, and subsequent aromatization of testosterone into estrogen.  This estrogen then enters the circulation and induces breast growth. So, it is common for breast growth to be complete at the time of presentation.
Nowadays AIS is the accepted terminology for the syndrome resulting from unresponsiveness of the target cell to the action of androgenic hormones. So, the male fetus is not stimulated by normal levels of circulating androgens. Hence, there is no fusion of the genital folds to form scrotum and penis, and no posterior migration of the labioscrotal folds.  The absence of androgen receptor means that pubic and axillary hair are either very scanty or absent. Also, the vagina is short and the uterus and tubes are absent.
This syndrome should be suspected in a female child with primary amenorrhea with no vagina and absent axillary or pubic hair. Although clinical examination makes the diagnosis straightforward, karyotyping is necessary for confirmation. Ultrasonography, computerized tomographic scan of the abdomen and pelvis, and even magnetic resonance imaging are useful in localizing the presence of testicular tissue. Laparoscopy is useful in confirming the diagnosis of this condition as well as to localize testes inside the abdomen.
For individuals with AIS, the standard management is gonadectomy to prevent possible malignant transformation of the testes. The overall incidence of gonadal tumors in patients with AIS is 5-10%.  The trend for malignant transformation is age related, and patients older than 30 years are at greatest risk. 
The timing of gonadectomy is debatable. As the gonadal tumors in these patients are not encountered before puberty, it is suggested that the gonads be removed at approximately 16-18 years of age.  Late gonadectomy allows pubertal development to occur spontaneously with the production of estrogen from the testosterone. Many women with this syndrome require vaginal lengthening procedures such as McIndoe operation and Williams operation. Nonsurgical techniques of using vaginal dilator along with pelvic floor physiotherapy are also helpful. Gonadectomy and vaginal lengthening procedures may be performed concurrently if surgery is postponed until the patient matures.
| Conclusion|| |
AIS is very stressful to the concerned individual and an affected patient should be handled with understanding and empathy. Counseling coupled with psychological and emotional support is probably the most important aspect of medical care from the patient's point of view. These patients can be made to lead life as a female. For this purpose, a multidisciplinary approach is required including gonadectomy, surgical correction, and repeated psychological counseling.
| References|| |
|1.||Viner RM, Teoh Y, Williams DM, Patterson MN, Hughes IA. Androgen insensitivity syndrome: A survey of diagnostic procedures and management in the UK. Arch Dis Child 1997;77:305-9. |
|2.||Adachi M, Takayang R, Tomura A. Androgen-insensitivity syndrome as a Possible coactivator disease. N Engl J Med 2001;344:696. |
|3.||Zorlu F, Cengiz M, Gurkaynak M, Yildiz F, Atahan IL. Seminoma arising in androgen insensitivity syndrome (testicular feminization syndrome): A case report. Turk J Cancer 2001;31:168-71. |
|4.||Hughes IA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab 2006;20:577-98. |
|5.||Portuondo JA, Neyro JL, Barral A, Gonzalez-Gorospe F, Benito JA. Management of phenotypic female patients with an XY karyotype. J Reprod Med 1986;31:611-5. |
|6.||Rainer S. Histological picture of the gonads in testicular feminization. Acta Eur Fertil 1970;2:93-9. |
|7.||Griffin JE. Androgen resistance: The clinical and molecular spectrum. N Engl J Med 1992;326:611. |