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Embryonal carcinoma in androgen insensitivity syndrome

Embryonal cell carcinoma is a rare clinical entity. We report a case of a 20-year-old patient who presented with lump lower abdomen for last two months with primary amenorrhea and poorly developed secondary sexual characteristics. Ultrasonography (USG) whole abdomen showed lower abdominal mass approximately 15 × 15 × 10 cm, probably neoplastic changes in intra-abdominal testis, with mild ascites, no uterus and ovaries. Fine needle aspiration cytology from the tumor mass reported the possibility of non-seminomatous germ cell tumor, possibly embryonal carcinoma. The patient received three cycles of neo-adjuvant chemotherapy (Regime Bleomycin, Etoposide and Cisplatin) followed by laparotomy, at laparotomy (L) orchidectomy with removal of tumor, (R) orchidectomy, omentectomy and appendisectomy was performed. Postoperatively the patient received two more cycles of chemotherapy of the same regime. The patient has been under close follow-up for the last three years with no evidence of disease.


INTRODUCTION
Androgen insensitivity syndrome (AIS), also called testicular feminization syndrome, is a form of X-linked male pseudohermaphroditism that is clinically recognized in patients with a female phenotype. The incidence of this syndrome has been reported in 1: 20,400 newborns.

CASE REPORT
Miss AB, a 20-year-old female, attended our outpatients' department (OPD) on 16 August 2007 with complaints of lump lower abdomen for last two months [ Figure 1]. She also complained of nausea and vomiting for the last few days. She had history of primary amenorrhea and poorly developed secondary sexual characteristics. There was no history of cyclic abdominal pain, hormonal intake, radiation exposure or any chemotherapy. There was no history of significant trauma and medical or surgical illness. There was no history of any major disease in the family. She is the second child of her mother being delivered vaginally at the age of 29 years. The mother reported that the pediatrician after examining the baby told the parents that the external genitalia of the baby were inadequately developed and advised the mother to return after one year if there was no adequate development. Over time they did not turn up and she started growing up as a female although with very poor development of her secondary sex characters. She has one brother and one sister. All of them attained puberty normally and are enjoying good health.
On general examination her condition was fair, height 146 cm and weight 42 kg. She had mild pallor. There was no cyanosis, clubbing, edema, obesity, acne, hirsutism, thyroid swelling or cushingoid features; her breast was small, underdeveloped with hypopigmented areola (Tanner Stage II). There was no axillary or pubic hair. Her systemic examination including chest and Cardiovascular system were within normal limits. Per abdomen examination revealed lump in lower abdomen, there was no visible swelling in the inguinal region. Her external genitalia were infantile. There were hypertrophied clitoris resembling like a micropenis. She had inadequately developed vulva with small vaginal pit [ Figure 2].
Her blood group was A +ve, H aemoglobin percentage 7.5 g% and all other routine blood tests were within normal

DISCUSSION
In androgen insensitivity syndrome (AIS), there is failure of normal masculinisation of the external genitalia in chromosomally male individuals. This failure of virilisation can be either complete androgen insensitivity syndrome (CAIS), or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function.
In post-pubertal patients, the most frequent cause for consultation is primary amenorrhea; however, in prepubertal patients, inguinal hernia may be the only symptom. The diagnosis of CAIS /male pseudohermaphroditism (46, XY) can be difficult in the neonate period, sometimes the only clue to suggest the diagnosis is an inguinal hernia in these females, who display a normal phenotype. Newborn girls with inguinal hernias have a 1.6% incidence of being male pseudohermaphrodites (46, XY) and should undergo a prompt karyotype analysis.
The karyotype is 46 XY, although cases with chromosomal mosaicism have also been reported. [1] Individuals with CAIS have female external genitalia with normal labia, clitoris and vaginal introitus. The phenotype of individuals with PAIS may range from mildly virilized female external genitalia, clitorimegaly without other external anomalies to mildly undervirilized male external genitalia (hypospadias and/ or diminished penile size). [2][3][4] The basic etiology of AIS is a loss of function mutation in the androgen receptor (AR) gene. This AR gene has been localized to the long arm of the X chromosome (i.e. Xq11-13). Over 200 such mutations have been described, including complete and partial gene deletions, point mutations, and small insertions/deletions. [5] In patients with CAIS, the testes should be removed after pubertal development is complete to prevent malignant transformation. In patients with cryptorchidism, the risk of developing germ cell tumor is increased fourfold to eightfold. The risk is 1% if the testis is retained in the Almost half of the testicular neoplasms are malignant (dysgerminoma), but transformation usually does not occur until after puberty. In patients who develop virilisation and have an XY karyotype, the testes should be removed immediately to preserve the female phenotype and female gender identity. Bilateral laparoscopic gonadectomy is the preferred procedure for removal of intra-abdominal testes. [6][7] The histology in our case was typical of non-seminomatous germ cell tumor embryonal carcinoma, which mostly occurs in the 20-30 years age group. These tumors are more aggressive than seminomas. Although pure embryonal cell carcinoma constitutes about 3% of testicular germ cell tumor, if one includes the mixed tumors, then embryonal carcinoma cells is present in about 45% of testicular germ cell tumors. [8] Our patient had omental metastasis which is very rare with few reported cases but at the same time it is difficult to explain if it is due to seedling or due to prior FNAC. [9] Management of non-seminomatous germ cell tumor Stage III constitutes neoadjuvant chemotherapy with BEP regime followed by surgery and the overall cure rate is around 50-70%, depending on risk factors.