Korean J Obstet Gynecol.  2011 Nov;54(11):701-706. 10.5468/KJOG.2011.54.11.701.

A case of complete androgen insensitivity syndrome with malignant mixed germ cell tumors

• Lee KH
• Lim YJ
• Lee JS
• Kim MS
• Jo JH
• Kim KR
• Park JY
• Kim JH

• KMID: 2274110
• DOI: http://doi.org/10.5468/KJOG.2011.54.11.701

Abstract

Androgen insensitivity syndrome cases have an increased risk of developing testicular cancer due to many factors such as mutations, hormonal disturbances involving gonadotropins and cryptorchidism. However, malignant germ cell tumor is relatively rarely found compared to those seen in other types of intersex. Recently, the authors experienced a case of malignant mixed germ cell tumor with lymph node metastasis and chemotherapy resistance which was developed in a 31-year-old patient with complete androgen insensitivity syndrome.

Keyword

Androgen insensitivity syndrome; Malignant mixed germ cell tumor

MeSH Terms

Adult
Androgen-Insensitivity Syndrome
Cryptorchidism
Germ Cells
Gonadotropins
Humans
Lymph Nodes
Male
Neoplasm Metastasis
Neoplasms, Germ Cell and Embryonal
Testicular Neoplasms
Gonadotropins

Figure

• 

  Fig. 1 Findings of abdominopelvic computed tomography. A huge (18 × 17 × 14 cm) solid and multi-septated cystic mass occupies the pelvic cavity. The solid portion is partially enhanced and focally calcified. Both ovaries are not identified and the uterus is not definite. Para-aortic lymph nodes (arrow) are involved by the tumor.

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  Fig. 2 Gross findings of pelvic mass. Solid and cystic mass contains necrotic portion (A) and a small portion of atrophic gonadal tissue (arrow) is identified beneath the thick muscular capsule (B). Microscopic findings of gonadal tissue. (C) A small area of atrophic testicular tissue with calcification is identified besides the tumor. Most tubules are hyalinized and immature somniferous tubules or ovarian-type stroma are not found (H&E, ×40). (D) The polygonal cells in atrophic tubules suspected as dysgenetic gonad (H&E, ×400). (E) They are positive for inhibin and confirmed as Leydig cells (Inhibin stain, ×400). Microscopic findings of tumor. (C-J) The tumor is composed with immature teratoma (F, 70%), yolk sac tumor (G, 20%), dysgerminoma (H, 5%), and embryonal carcinoma (I&J, 5%) (F, H&E, ×100; G-J , H&E, ×200). (K) Metastatic tumor is present in pelvic lymph node (H&E, ×100).

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  Fig. 3 The results of molecular analyses. Androgen receptor gene shows a deletion of the arginine at nucleotide position c.615 (left). Sex-determining region Y gene is intact (right). seq., sequence; Ar, Androgen receptor; PCR cont., PCR control map; NAIP e4, Neuronal apoptosis inhibitory protein; SRY, sex-determining region Y; MC, male control; FC, female control; Pt, patient.

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