|Year : 2012 | Volume
| Issue : 3 | Page : 115-117
Complete androgen insensitivity syndrome: An uncommon presentation with acute abdomen
Babul Reddy Hanmayyagari1, Mounika Guntaka2, Ravikumar Muppidi3, Suman Latha4
1 Consultant Endocrinologist, Employees State Insurance Hospital, Hyderabad, Andhra Pradesh, India
2 Consultant Biochemist, Prime Hospital, Hyderabad, Andhra Pradesh, India
3 Consultant Endocrinologist, Advanced Endocrine and Diabetes Hospital, KPHB, Hyderabad, Andhra Pradesh, India
4 Consultant Gynaecologist, Advanced Endocrine and Diabetes Hospital, KPHB, Hyderabad, Andhra Pradesh, India
|Date of Web Publication||21-May-2014|
Dr. Babul Reddy Hanmayyagari
Flat No - 507, Emerald Block, My Home Jewel, Madinaguda, Hyderabad - 500 049, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
The typical presentation of complete androgen insensitivity syndrome (CAIS) is with an inguinal hernia in an infant or a child and with primary amenorrhea in adult phenotypic female. We hereby report a case reared as a female and considered to have primary amenorrhea, who presented with acute abdomen, provisionally diagnosed to have torsion of ovary and underwent laparoscopic gonadectomy. Histopathology revealed gangrenous testicular tissue; karyotyping was 46XY. So, finally, a diagnosis of complete androgen insensitivity with torsion of intra-abdominal testis was made. We also discuss the rarity of such a presentation, risk of neoplasia, and timing of gonadectomy in such patients.
Keywords: Complete androgen insensitivity syndrome, gonadectomy, torsion of testes, undescended testes
|How to cite this article:|
Hanmayyagari BR, Guntaka M, Muppidi R, Latha S. Complete androgen insensitivity syndrome: An uncommon presentation with acute abdomen. J Acad Med Sci 2012;2:115-7
|How to cite this URL:|
Hanmayyagari BR, Guntaka M, Muppidi R, Latha S. Complete androgen insensitivity syndrome: An uncommon presentation with acute abdomen. J Acad Med Sci [serial online] 2012 [cited 2020 Jun 7];2:115-7. Available from: http://www.e-jams.org/text.asp?2012/2/3/115/132953
| Introduction|| |
Complete androgen insensitivity syndrome (CAIS), previously called as testicular feminization,  is an X-linked recessive condition due to mutations in androgen receptor (AR). Up to 30% of cases are sporadic.  The estimated prevalence of AIS is one in 20,000-99,000 genetic males.  The responsible gene is located in the proximal, long arm of the X chromosome.  Currently, there are approximately 750 known AR mutations resulting in various diseases depending on severity of mutation including CAIS, partial AIS (PAIS), mild AIS (MAIS), and spinal and bulbar muscular atrophy (Kennedy's disease).
An affected individual has 46XY karyotype with normal differentiation of testes in utero. But a defect in the gene coding for the AR results in complete insensitivity to circulating androgens, resulting in phenotypic female development.  Psychosexual orientation is feminine. There is, however, no uterus and only a partially formed vagina, and pubic and axillary hair is scant or absent. The increased testosterone production is secondary to increase in serum luteinizing hormone (LH) concentrations resulting from resistance to the feedback effect of androgens on LH secretion at the hypothalamic-pituitary level. Both the frequency and amplitude of pulses of LH secretion are increased.  Serum follicle stimulating hormone (FSH) concentrations are usually normal.
We hereby submit a rare presentation of CAIS with acute abdomen due to torsion of intra-abdominal testis which required laparoscopic gonadectomy. Simultaneously, the rarity of such presentation and timing of removal of in situ gonad is also discussed.
| Case Report|| |
A 17-year-old phenotypic female with history of primary amenorrhea, presented to the gynecologist with sudden onset of severe right lower quadrant abdominal pain for 1 day [Figure 1]. The pain was not associated with any bowel or urinary symptoms. Examination revealed tenderness and guarding over the left lower quadrant of the abdomen. The rest of the abdomen was soft and non-tender. Urgent ultrasound examination was performed. The provisional diagnosis of torsion of the right ovary was made, with uterus not being visualized. Emergency laparoscopic gonadectomy was carried out and the surgeon too noted absence of uterus. Postoperatively, the patient made a satisfactory recovery and was discharged on 2 nd day [Figure 2]. The histopathology report revealed ischemic necrosis and hemorrhage in testicular parenchyma consistent with torsion, marked by Leydig-cell hyperplasia with no evidence of malignancy and no ovarian tissue was found. The patient was referred for endocrine evaluation and further management.
|Figure 1: Index patient with her younger sibling (later diagnosed to have CAIS with inguinal gonads)|
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|Figure 2: Biopsy was showing early gangrenous and normal testicular tissue|
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The patient was born of a nonconsanguineous marriage, born after full-term normal delivery, first in birth order. The external genitalia appeared feminine without any genital ambiguity. She noticed breast development at 12 years of age. There was no history of recurrent cyclical abdominal pain, hirsutism, or acne. There was no galactorrhea or clinical features suggestive of increased intracranial tension or hypothyroidism. Her 14-year-old sister did not attain menarche yet. On examination, her weight was 64 kg, height 151 cm, no stigmata of Turner's syndrome, no goiter, and no galactorrhea. Her sexual maturity rate was Tanner stage: Breast 4 Pubic hair 3 Axillary hair 1 and her systemic examination was normal. Local examination of external genitalia was normal, with a blind ended vagina. Routine biochemistry parameters were normal with FSH-2.1 miU/ml (1.5-10.2), testosterone-5.9 ng/ml (female 0.2-0.6, male 3-6.5), and estradiol-40.64 pg/ml (female 10-50). However, LH was elevated-22.6 miU/ml (1.9-12). Ultrasonography of pelvis revealed no Mullerian structures; karyotype was 46XY [Figure 3]. Diagnosis of CAIS with torsion of intra-abdominal testis was established. Laparoscopic intra-abdominal testis removal was planned along with estrogen replacement and psychological counseling.
| Discussion|| |
The typical presentation of CAIS in an infant or child is with inguinal hernia in a phenotypic female. Recent data shows a 1.1% incidence rate of CAIS in a child with a premenarcheal inguinal hernia, while 80-90% of girls with CAIS eventually develop an inguinal hernia.  In later period the most common presentation is that of primary amenorrhea with normal breast development. Examination reveals Tanner breast development consistent with age with scant to absent axillary and pubic hair. Height is typically in the male mid-parental height range and the genitourinary examination reveals normal external genitalia with rudimentary, blind ending vagina. Various locations of testes have been mentioned in patients with CAIS. One study showed that out of 52 patients with the CAIS diagnosed, 35 (67%) had abdominal, 16 had inguinal, and one had labial testes.  The main differential diagnosis for CAIS are complete gonadal dysgenesis (Swyer syndrome) which is distinguished by poor breast development, short stature, and true hermaphrodism which can be differentiated by some degree of masculinization, presence of ovarian tissue on histology specimen.
The incidence of testicular torsion is approximately 10 times higher in undescended testes than in normal scrotal testes.  An undescended testis is more vulnerable for torsion on its spermatic cord. Torsion of an undescended testis often occurs in association with the development of a testicular tumor, presumably caused by increased weight and distortion of the normal dimensions of the organ.  In the current case, histology was negative for malignancy, so torsion could be due to undescended testes itself.
The major concern with regard to cryptorchid testes (more often in abdominal than in inguinal testes) is the development of a neoplasia, usually a gonadoblastoma or a malignant dysgerminoma. The incidence of neoplastic formation is 52%, half of which are malignant, and usually occurs after puberty. The risk of developing malignancy increases with age, reaching 33% at the age of 50. , So, prophylactic gonadectomy is advised.
Even though there exists much controversy about the timing of gonadectomy, most agree that subjects of CAIS have a normal pubertal growth spurt and feminize at the time of expected puberty and because the tumors do not usually develop until after this time,  gonadectomy in women with CAIS can be delayed until sexual maturation is complete. , Carcinoma in situ of the testis has been described in prepubertal girls with CAIS, but its importance is uncertain.  In rare situations, the convenience of combining gonadectomy with hernia repair or the need to relieve symptoms of discomfort from labial or inguinal testes justifies removal of the testes before puberty. Management of CAIS needs multidisciplinary approach including gonadectomy, surgical correction and detailed psychological counseling along with hormonal replacement.
In conclusion, CAIS is a rare clinical entity. To the best of our knowledge, this kind of a presentation of CAIS with torsion of intra-abdominal testis is not been reported in the world literature.
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[Figure 1], [Figure 2], [Figure 3]