J Korean Endocr Soc.  2008 Aug;23(4):277-283.

A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene

• Sung JM
• Yoon HY
• Kim HJ
• Kim MR
• Lee TH
• Joo HJ
• Park WI
• Chung YS

Abstract

Androgen insensitivity syndrome (AIS) is a hereditary disorder that's characterized by the female phenotype in spite of the 46, XY karyotype, and this is caused by mutation of the androgen receptor gene. We experienced a case of the complete type of AIS. A 20-yr-old woman was evaluated for primary amenorrhea. The patient had external genitalia of the female phenotype, but she had no ovaries or uterus. The abdominal computed tomography scan revealed suspected testes in the pelvic cavity. The chromosome analysis was reported as 46, XY. We identified an androgen receptor gene novel mutation, including CAT deletion at the position 1925~1927 and AG deletion at the position 2129~2130 of exon 5, in both the proband and her sister. The patient underwent laparoscopic gonadectomy due to the possibility of malignant tumor developing in the testes. The subject is now on estrogen supplementation and she is under regular follow-up; she is in a good condition.

Keyword

androgen-insensitivity syndrome; androgen receptor; novel mutatio

MeSH Terms

Amenorrhea
Androgen-Insensitivity Syndrome
Animals
Cats
Estrogens
Exons
Female
Genitalia
Humans
Karyotype
Male
Ovary
Phenotype
Receptors, Androgen
Siblings
Testis
Uterus
Estrogens
Receptors, Androgen

Figure

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  Fig. 1 Family pedigree of androgen insensitivity syndrome.

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  Fig. 2 Computed tomography of abdomen showed bilateral pelvic cavity masses suspected with testicular tumors (arrows).

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  Fig. 3 The karyotype of patient showed a 46, XY chromosomal pattern.

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  Fig. 4 Scheme of the androgen receptor gene mutation. The underlines indicate the position of nucleotide deletions. The arrow indicates the position of frame-shift. Amino acids are shown with a three letter code.

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  Fig. 5 Gross sections of the resected gonads. A. Right gonad was surrounded by whitish tunica and had yellow-gray nodule. B. Left gonad was composed of gray parenchyme and had multiple nodules.

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  Fig. 6A Histology of the resected gonads. A hamartomatous nodule was encapsulated by thin connective tissue and was composed of compacted seminiferous tubules with little stromal Leydig cells (H&E stain ×100).

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  Fig. 6B Histology of the resected gonads. Surrounding parenchyme consisted of tubules and proliferated stromal Leydig cells (H&E stain ×200).

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  Fig. 6C Histology of the resected gonads. A gonad at left side included fallopian tube-like structure (H&E stain ×40).

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