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CASE REPORT
Year : 2019  |  Volume : 8  |  Issue : 4  |  Page : 284-285

Complete androgen insensitivity syndrome: A case report


Department of Surgery, Swami Shri Nirdoshanandji Manavseva Hospital, Timbi, District Bhavnagar, Gujarat, India

Date of Submission28-Oct-2018
Date of Decision21-Jan-2018
Date of Acceptance15-Feb-2019
Date of Web Publication16-Dec-2019

Correspondence Address:
Dr. Suresh K Jariwala
C/202, Vraj Dham, Rambaug Lane, Off S. V. Road, Borivali West, Mumbai, Maharashtra - 400 092
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JDRNTRUHS.JDRNTRUHS_101_18

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  Abstract 


Technology cannot replace clinical acumen. Think of complete androgen insensitivity syndrome (CAIS) in a female child with inguinal hernia. Diagnosis was missed in our patient when she presented with inguinal hernia the first time. Karyotyping should be done. Sex of rearing in CAIS is female. Chances of tumor development in retained testis are low. Testis helps in development of female secondary sexual characters and avoids estrogen replacement therapy early in life. Gonadectomy is done in early adulthood.

Keywords: Androgen, complete, insensitivity, syndrome


How to cite this article:
Jariwala SK. Complete androgen insensitivity syndrome: A case report. J NTR Univ Health Sci 2019;8:284-5

How to cite this URL:
Jariwala SK. Complete androgen insensitivity syndrome: A case report. J NTR Univ Health Sci [serial online] 2019 [cited 2020 Apr 5];8:284-5. Available from: http://www.jdrntruhs.org/text.asp?2019/8/4/284/273126




  Case Report Top


A five -year- old girl was brought by her parents for painless swelling in groin of 2 months' duration. She had undergone surgery for the left congenital inguinal hernia 1 year ago. No operation details were available. On examination, she had external appearance of a female child [Figure 1], healed scar in left groin, and a reducible inguinal hernia on the right side. External genitals were feminine. The author could palpate testis on the right side as content of the hernia. So disorder of sexual differentiation (DSD) or androgen insensitivity syndrome (AIS) was suspected. Ultrasonogram (USG) of the right inguinal region was not helpful. USG of the abdomen showed absence of uterus and  Fallopian tube More Detailss. Hence, chromosomal study was ordered. The study showed 46, XY [Figure 2]. That proved the case to be complete androgen insensitivity syndrome (CAIS). Hormonal evaluations of testosterone and gonadotrophins were not done due to cost constraints. Parents were counselled about diagnosis and plan of treatment. Right inguinal herniotomy was done. The testis was not removed. She was discharged home the next day. Her parents were counselled about sex of rearing, need for orchidectomy after puberty and development of secondary sexual characters, amenorrhea, marriage, and infertility.
Figure 1: Face of the patient

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Figure 2: Karyotype

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  Discussion Top


AIS is the most common male pseudohermophrodite. Incidence varies from 1 in 20,400 to 1 in 99,000.[1] Patient has 46, XY chromosome and testis. Antimullerian hormone is produced by the testis. So uterus and fallopian tubes do not develop in fetus. The fault lies with androgen receptors which are mutated. Male differentiation of external genitals does not occur. It is classically divided into complete AIS (our patient, complete female phenotype, absent uterus, tubes, and short vagina), partial AIS (ambiguous external genitals), and mild (male with infertility) varieties.

Our patient had undergone left inguinal herniotomy 1 year ago. The diagnosis was missed that time. USG was not helpful. When the girl was brought for right inguinal hernia, the author could palpate testis, though USG report was again not helpful in diagnosis. Presence of gonad made the author suspect DSD or AIS. Fifty percent of patients with complete AIS have an inguinal hernia.[1] About 1%–2% of apparently female infants with inguinal hernia are found to have karyotype 46, XY and CAIS.[2] The author specifically asked the radiologist to look for uterus and tubes in USG of abdomen. It was absent. This strengthened the suspicion of AIS. External genitals in our child were feminine, not ambiguous. That ruled out incomplete AIS and other forms of DSD. To confirm CAIS, karyotyping was essential.[3] It was 46, XY. Hormonal analysis like serum testosterone and gonadotrophins were not done due to cost constraints.

Parents were counselled about diagnosis of CAIS, sex of rearing, surgery for inguinal hernia, and gonadectomy in future. Sex of rearing in CAIS is always female. Timing of gonadectomy is debatable.[1] Preserving testis till puberty helps in development of secondary sexual characters like breast. At the same time, testis in situ is prone to develop malignancy like gonadoblastoma and seminoma in adults.[1],[4] A recent study has proved that chances of malignant degeneration of testis before puberty are extremely low.[5] The author has already reported one case of seminoma in retained testis in CAIS.[4] Hence, removal of testis is advised after puberty and development of secondary sexual characters. This avoids estrogen replacement therapy early in life. It is more cost-effective in poor resource countries like ours. We did simple herniotomy on our patient leaving the testis in situ.

Counselling is important in AIS. Previously, diagnosis was not disclosed to parents and patient. It is now considered inappropriate. The diagnosis is disclosed to parents of child and adult patient.[1] Information is available on the Internet freely today about diagnosis and management.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to b'e reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Achermann JC, Hughes A. Disorders of sex development. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, editors. Williams Textbook of Endocrinology. 11th ed. Philadelphia, PA: Saunders; 2008. p. 783-848.  Back to cited text no. 1
    
2.
Viner RM, Teoh Y, Williams DM, Patterson MN, Hughes IA. Androgen insensitivity syndrome: A survey of diagnostic proceedings and management in the UK. Arch Dis Child 1997;77:305-9.  Back to cited text no. 2
    
3.
Deeb A, Hughes IA. Inguinal hernia in female infants: A cue to check the sex chromosomes? BJU Int 2005;96:401-3.  Back to cited text no. 3
    
4.
Jariwala SK, Kumari L, Kumar B, Natanasabapathy R. Androgen resistance syndrome with Seminoma. A case report. Ind J Surg 1998;60:265-6.  Back to cited text no. 4
    
5.
Hannema SE, Scott IS, Rajpert-De Meyts E, Skakkebaek NE, Coleman N, Hughes IA. Testicular development in complete androgen insensitivity syndrome. J Pathol 2006;208:518-27.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2]



 

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