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Diagnostic and Interventional Imaging (2014) xxx, xxxxxx

E-QUID: ANSWER / Genito-urinary imaging

Complete androgen sensitivity syndrome

I. Skiker a,, S. Nasri a, S. Maimouni a, H. Latrech b,
A. Mimouni c, A. Brahimi d
a

Department of Radiology, El Farabi Hospital, FMPO, Mohamed Premier Oujda University,

Oujda, Morocco
b
Department of Endocrinology, El Farabi Hospital, Oujda, Morocco
c
Maternity Department, El Farabi Hospital, Oujda, Morocco
d
Radiology Department, Ibn Rochd, Oujda, Morocco

Case report
This was a 30-year-old female patient, the third of six siblings, who had no particular
previous history. She had been married for 12 years and consulted because of primary
sterility, when the clinical enquiry revealed primary amenorrhea. On clinical examination
she was of normal female body morphology, apart from relatively poorly developed axillary
and pubic hair growth and on palpation she was found to have two structures in her inguinal
folds. Gynecological examination showed the vagina to be patent although with a blind
end and no cervix. Her hormone prole showed an FSH of 11.75 mIU/mL, 17-beta estradiol
of 10.84 pg/mL and a serum testosterone of 0.190 ng/mL.
Pelvic ultrasound (Fig. 1ac) with sections through the inguinal structures and a pelvic
CT (Fig. 2) and MRI (Fig. 3) were performed.

DOI of original article:http://dx.doi.org/10.1016/j.diii.2014.04.010.

Here is the answer to the case Primary infertility previously published. As a reminder we publish again the entire case with the
response following.
Corresponding author at: Boulevard Mohamed VI, rue Dobai, no 4, Oujda, Morocco.
E-mail address: imanesugar@yahoo.fr (I. Skiker).

http://dx.doi.org/10.1016/j.diii.2014.04.011
2211-5684/ 2014 ditions franc
aises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

Please cite this article in press as: Skiker I, et al. Complete androgen sensitivity syndrome. Diagnostic and Interventional
Imaging (2014), http://dx.doi.org/10.1016/j.diii.2014.04.011

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Figure 1.

Pelvic ultrasound: sections through the uterine region (a) and through the right (b) and left (c) inguinal structures.

Figure 2.

Pelvic CT: axial section through the uterine region and through the two inguinal structures.

Please cite this article in press as: Skiker I, et al. Complete androgen sensitivity syndrome. Diagnostic and Interventional
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Complete androgen sensitivity syndrome

Figure 3.

Pelvic MRI: median T2 (a) and axial T2 (b, c) weighted sagittal sections.

What is your diagnosis?

What would your diagnosis be from the case report out of
the following:
partial androgen insensitivity syndrome;
complete androgen sensitivity syndrome;
Mayer-Rokitansky-Kuster-Hauser syndrome.

producing male pseudohermaphroditism. It is a rare condition, with an incidence ranging from 1/20,000 to 1/65,000
births [1]. The syndrome is due to peripheral tissue androgens insensitivity because of absence of or qualitative
defect in the corresponding cell receptor or a defect affecting either gene transcription or nuclear binding of the
steroid-receptor complex [2]. Androgen insensitivity results

Diagnosis
The complete androgen insensitivity syndrome.

Comments
A suprapubic pelvic ultrasound showed the uterus and
ovaries to be absent (Fig. 4a) and along with two
clearly demarcated symmetrical ovular structures, the tissue echostructure of which was consistent with inguinal
testes (Fig. 4b and 4c).
Pelvic CT conrmed the uterus and ovaries to be absent
and located the testes in the inguinal regions (Fig. 5). MRI
showed a vagina with a blind end, which was clearly seen
on the median sagittal section (Fig. 6a) and showed the
uterus and fallopian tubes to be completely absent (Fig. 6b).
Two relatively symmetrical ovular tissue masses, which were
moderately hypointense compared to the muscles on T2
weighted images, were seen in the inguinal region (Fig. 6c).
No follicular structures were seen on the surface of the
masses and the morphological appearances were consistent
with male gonads located in the inguinal region. Together,
these clinical and radiological signs suggest a diagnosis of
complete androgen insensitivity. This diagnosis was conrmed by cytogenetic studies, which showed a 46XY male
karyotype. The patient underwent bilateral orchidectomy
and was started on estrogen-progestagen hormone replacement therapy. Histological examination conrmed that the
gonadectomy specimens were testicular structures with dysplastic testes and immature seminiferous tubules.

Discussion
The complete androgen insensitivity syndrome or testicular feminization syndrome is due to gonadal dysgenesis

Figure 4. Pelvic ultrasounds with sections through the uterine

region (a) showing the uterus and ovaries to be absent and through
the right (b) and left (c) inguinal structures, the echostructure of
which resembles the testes.

Please cite this article in press as: Skiker I, et al. Complete androgen sensitivity syndrome. Diagnostic and Interventional
Imaging (2014), http://dx.doi.org/10.1016/j.diii.2014.04.011

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Figure 5. Pelvic CT: axial section through the uterine region and
through the two inguinal structures conrming absence of the uterus
and ovaries and presence of the two inguinal testicular structures.

in female sexual differentiation. The diagnosis is rarely

made before puberty: a suggestive sign at puberty is the
absence or scarcity of sexual hair growth. After puberty the
diagnosis is made after presentation with primary amenorrhea or primary infertility [3], which was the case in
our patient. Physical examination often shows consistent
female morphological development with gynoid fat distribution, well-developed breasts and normal scalp hair

growth. Sexual hair growth however is inadequately developed or replaced by a sign down, which was present in
our patient. On gynecological examination the external
genital organs are female, with a small clitoris and welldeveloped labia majora and minora. The vagina is small
and patent ending in a cul-de-sac although the internal
genital organs (cervix and uterus) are absent [2,3]. The
gonads are usually located intraperitoneally and occasionally in the inguinal canals. In our case the testes were
located in the inguinal region. A hormone prole shows
patients testosterone to be normal or raised, but occasionally low, as in our patient. Ultrasound clearly shows the
ectopic testes particularly if they are located in the inguinal
canals or in the labia majora although are less discriminatory if they are in the abdomen or pelvis. CT is currently
only recommended if MRI is contraindicated or if testicular cancer is found as it also provides an accurate staging
assessment.
MRI is the best imaging technique. Ectopic testes are
iso- or moderately hyperintense on T2 weighted images
and hypointense on T1 images [4,5]. As applies to all
ectopic testes, the feminizing testes are at risk of malignant
transformation and they are therefore routinely removed
surgically, generally after puberty. Hormone replacement
therapy is indicated to prevent regression of secondary sexual characteristics [1,3]: our patient underwent surgical
castration followed by hormone replacement therapy. Antenatal diagnosis has now become available by testing for the
mutation responsible or from androgen receptor gene polymorphisms examined in amniotic uid or from a trophoblast
biopsy [3].

Figure 6. Median T2 weighted (a) sagittal pelvic MRI showing a vagina with a blind end and no uterus and T2 weighted axial sections (b,
c) showing the testes located in the inguinal region.

Please cite this article in press as: Skiker I, et al. Complete androgen sensitivity syndrome. Diagnostic and Interventional
Imaging (2014), http://dx.doi.org/10.1016/j.diii.2014.04.011

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Conclusion

References

The complete androgen insensitivity syndrome is a rare

condition and is often diagnosed after puberty as a result
of primary amenorrhea or primary infertility. Imaging plays
an important role in the diagnosis. Castration is performed
as early as possible because of the risk of malignant degeneration, following which hormone replacement therapy is
started.

[1] Berg JS, French SL, McCullough LB, Kleppe S, Sutton R, Gunn
SK, et al. Ethical and legal implications of genetic testing in
androgen insensitivity syndrome. J Pediatr 2007;150:4348.
[2] Bel Hadj Youssef D, Kacema M, Khochtali I, Moussab A, Saidani
Z, Denguezli W, et al. Syndrome de rsistance complte aux
andrognes: nouvelle mutationchez une famille tunisienne. Ann
Endocrinol 2008;69:21826.
[3] Mikou F, Boufettal H, Boufettal R, Alehyane I, Elkerroumi M,
Ghazli M, et al. Le syndrome dinsensibilit aux andrognes (
propos dun cas). J Morocco Urol 2009;13:303.
[4] Fatnassi R, Trabelsi A, Saa F, Amrii F, Khairi H. Le syndrome dinsensibilit complte andrognes. Imagerie Femme
2008;18:2514.
[5] Canale S, Lafont C, Perrot N, Bazot M. Une amnorrhe primaire.
Imagerie Femme 2008;18:12830.

Disclosure of interest
The authors declare that they have no conicts of interest
concerning this article.

Please cite this article in press as: Skiker I, et al. Complete androgen sensitivity syndrome. Diagnostic and Interventional
Imaging (2014), http://dx.doi.org/10.1016/j.diii.2014.04.011