Complete androgen insensitivity syndrome associated with bilateral sertoli cell adenomas and paratesticular leiomyomas: Case report and review of the literature

Siminas, Sotirios; Kokai, George; Kenny, Simon E.

doi:10.1016/j.jpurol.2012.06.013

Cited by 16 publications

(26 citation statements)

References 19 publications

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“…Different complications ranging from hamartoma to malignant germ-cell tumours can occur in the ectopic gonads and clinically manifest in a wide age group ranging from 9 to 53 years but often in postpubertal patients. Siminas et al 14 presented a case of CAIS associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas. Seminomas are well documented in CAIS including a case with an inguinal hernia in a 31-year-old woman 15.…”

Section: Discussionmentioning

confidence: 99%

Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination

et al. 2016

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Androgen insensitivity syndrome is a rare disorder of sex development and its clinical manifestations vary from subtle male infertility to an overt complete androgen insensitivity syndrome (CAIS) with a female phenotype. CAIS is often diagnosed at puberty or in adolescence during investigation for primary amenorrhoea. Undiagnosed patients have an increased risk of development of malignancy in the harboured testes. Inguinal hernia is the commonest mode of presentation of CAIS in childhood and various screening methods are available during the initial herniorrhaphy procedure. Controversy exists in the need to screen and the methods of screening in all cases of premenstrual girls with inguinal hernia. Abnormal observation in a suspicious case requires karyotyping for confirmation. We describe a case of CAIS with simultaneous presence of seminoma and a Sertoli cell adenoma in a 17-year-old patient who had a history of surgery for inguinal hernia at age of 5 years.

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Section: Discussionmentioning

confidence: 99%

Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination

et al. 2016

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“…Nowotwory te w przypadku PAIS występują z częstością 10-25%, podczas gdy w CAIS z częstością 0,8-2% [13,14]. Przy AIS jest także większe ryzyko nowotworu wywodzącego się z komórek Sertoliego (sertolioma) -ok. 20% [15]. Nowotwory te są zwykle łagodne, ale opisywano także przypadki gruczolakoraków.…”

Section: Dyskusjaunclassified

Partial androgen insensitivity syndrome – case report

Petriczko¹,

Marcinkiewicz²,

Słowikowska-Hilczer³

et al. 2014

Pediatr. Endocrinol.

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Słowa kluczowe: zaburzenia różnicowania płciowego, zespół częściowej niewrażliwości na androgeny, gonadektomia, korekcja chirurgiczna narządów płciowych, substytucja hormonalna Key words: disorders of sex development, partial androgen insensitivity syndrome, gonadectomy, surgical correction of external genitalia, hormonal substitution Praca finansowana z grantu MNiSW nr N N407 277339 STRESZCZENIE/ABSTRACTZespół niewrażliwości na androgeny (AIS, androgen insensitivity syndrome, zespół Morrisa) jest wrodzonym, dziedziczonym w sposób recesywny sprzężony z chromosomem X, zaburzeniem rozwoju płciowego. Przedstawiono przypadek 11-letniej dziewczynki, diagnozowanej z powodu przerostu łechtaczki. Stwierdzono żeńską identyfikację płciową, obecność jąder w kanałach pachwinowych, a w badaniu cytogenetycznym kariotyp 46,XY. Badania hormonalne i obrazowe potwierdziły rozpoznanie zespołu częściowej niewrażliwości na androgeny. Ze względu na podwyższone ryzyko nowotworu złośliwego jąder, a także możliwość postępu objawów wirylizacji chorą zakwalifikowano do zabiegu całkowitego usunięcia gonad. Odroczono chirurgiczną korekcję zewnętrznych narządów płciowych do okresu podojrzewaniowego. Rozpoczęto terapię estrogenową. Endokrynol. Ped. 13/2014;1(46):61-68.Androgen insensitivity syndrome (AIS, Morris syndrome) is a congenital, inherited in a recessive, X-linked manner disorder of sex development. A case of an 11-year-old girl diagnosed because of clitoromegaly is presented. Female gender identity, testes in inguinal canals and 46,XY karyotype in a cytogenetic analysis were recognized. Hormonal and imaging investigations confirmed the diagnosis of partial androgen insensitivity syndrome. Due to the increased risk of testicular malignancy and possibility of advancing virilisation the patient was qualified for a complete removal of the gonads. The surgical correction of the external genitalia was postponed until postpuberty. An estrogen replacement therapy was started.

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“…Various tumors associated with the gonads have been confirmed by radiologic and pathologic findings. Among gonadal tumors that are associated with this syndrome, paratesticular leiomyoma has been reported in several cases worldwide (3).…”

Section: Introductionmentioning

confidence: 99%

Complete Androgen Insensitivity Syndrome with Paratesticular Leiomyoma: A Case Report

Lee

et al. 2017

J Korean Soc Radiol

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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. 230Complete mass with an abutting cystic component in both inguinal regions (Fig. 1A). Color Doppler imaging showed scant vascularity in the mass (Fig. 1B). On pelvic US, the uterus and ovaries were absent. To help localize the gonads, we performed pelvic MRI, which revealed the absence of the uterus and ovaries. The blindended vagina measured 5 cm in length (white arrow in Fig. 1C).MRI showed two solid masses, suggesting that both testes (hollow arrow in Fig. 1D, E) were located in the inguinal canals; the right mass, measuring 1.8 × 0.8 × 2.0 cm, was located in the superficial inguinal ring, while the left mass, measuring 1.8 × 1.2 × 2.6 cm, was located in the deep inguinal ring. Both testes had lower signal intensity than normal testes due to fibrosis and atro- phic changes. An isointense T2 signal tubular structure close to the testes (white arrow in Fig. 1D, E) was observed, which appeared to be similar in shape to atrophic epididymides. Multiloculated cysts (asterisk in Fig. 1D-F) were visible adjacent to the lower pole of the testes. There were no signs of malignancy.The patient subsequently underwent bilateral gonadectomy.Macroscopic examination revealed multiloculated cysts containing reddish fluid, in addition to solid gray and yellow areas.Histopathology of the mass revealed the presence of testes with atrophic seminiferous tubules and hamartomatous proliferation of Leydig cells (Fig. 1G). The tubular structure adjoining the mass, observed on MRI, contained smooth muscle fibers that stained positive for actin (Fig. 1H). This feature was consistent with leiomyoma. Leiomyoma perhaps originated from the paratesticular tissues (epididymis, spermatic cord, and vestigial remnants). Bilateral masses had the same pattern on microscopic examination. initial diagnosis, preoperative planning, and treatment.

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Complete androgen insensitivity syndrome associated with bilateral sertoli cell adenomas and paratesticular leiomyomas: Case report and review of the literature

Abstract: Although the risk of gonadal tumour development is considered to be low, a variety of tumours have been described in association with CAIS, but this is the first report of development of bilateral paratesticular leiomyomas developing concurrently with Sertoli cell adenomas.

Cited by 16 publications

References 19 publications

Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination

Complete androgen insensitivity syndrome with concomitant seminoma and Sertoli cell adenoma: an unusual combination

Partial androgen insensitivity syndrome – case report

Complete Androgen Insensitivity Syndrome with Paratesticular Leiomyoma: A Case Report

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