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Sung, Yoon, Kim, Kim, Lee, Joo, Park, and Chung: A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene
Case Report
Journal of Korean Endocrine Society

Journal of Korean Endocrine Society 2008; 23(4): 277-283.

Published online: 31 August 2008

DOI: https://doi.org/10.3803/jkes.2008.23.4.277

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

Jun Mo Sung, Hyung-Young Yoon, Hyon J. Kim1, Mi Ran Kim2, Tae Hi Lee3, Hee Jae Joo3, Won Il Park4, Yoon-Sok Chung

Department of Endocrinology and Metabolism, Ajou University School of Medicine, Korea.

1Department of Medical Genetics, Ajou University School of Medicine, Korea.

2Department of Obstetrics and Gynecology, Ajou University School of Medicine, Korea.

3Department of Pathology, Ajou University School of Medicine, Korea.

4Department of Obstetrics and Gynecology, Eulji University School of Medicine, Korea.

Received 22 March 2008       Accepted 12 June 2008

Copyright © 2008 Korean Endocrine Society

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.

Keywords: androgen-insensitivity syndrome, androgen receptor, novel mutatio

Figures and Tables

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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Table 1
Primer sequences and polymerase chain reaction conditions for the androgen receptor gene
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