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- Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia
- Sung Won Lee, Dong Shin Kwak, In Sub Jung, Joo Hee Kwak, Jung Hwan Park, Sang Mo Hong, Chang Bum Lee, Yong Soo Park, Dong Sun Kim, Woong Hwan Choi, You Hern Ahn
- Endocrinol Metab. 2015;30(2):226-230. Published online June 30, 2015
- DOI: https://doi.org/10.3803/EnM.2015.30.2.226
- 6,933 View
- 72 Download
- 6 Web of Science
- 7 Crossref
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Abstract
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PubReader Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.
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Citations
Citations to this article as recorded by
- A case of mild partial androgen insensitivity syndrome in a juvenile boy
Fen Wang, Shiying Shao, Wentao He, Shuhong Hu
Journal of International Medical Research.2024;[Epub] CrossRef - Gynecomastia in adolescent males: current understanding of its etiology, pathophysiology, diagnosis, and treatment
Kotb Abbass Metwalley, Hekma Saad Farghaly
Annals of Pediatric Endocrinology & Metabolism.2024; 29(2): 75. CrossRef - Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes
Nae-yun Lee, Ja Hye Kim, Ji-Hee Yoon, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Annals of Pediatric Endocrinology & Metabolism.2023; 28(3): 184. CrossRef - The Impact and Management of Gynaecomastia in Klinefelter Syndrome
Amr Abdel Raheem, Ahmed Said Zaghloul, Ahmed M. G. Sadek, Bilal Rayes, Tarek M. Abdel-Raheem
Frontiers in Reproductive Health.2021;[Epub] CrossRef - Identification of Potential Genes in Pathogenesis and Diagnostic Value Analysis of Partial Androgen Insensitivity Syndrome Using Bioinformatics Analysis
Yajie Peng, Hui Zhu, Bing Han, Yue Xu, Xuemeng Liu, Huaidong Song, Jie Qiao
Frontiers in Endocrinology.2021;[Epub] CrossRef - Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review
Aureliano Fiorini, Margherita Sepich, Margherita Pontrelli, Giorgio Sangriso, Mirna Cosci o Di Coscio, Marcella Lauletta, Fulvia Baldinotti, Diego Peroni, Maria Rosaria Ambrosio, Silvano Bertelloni
Sexual Development.2020; 14(1-6): 21. CrossRef - Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia
F. Paris, L. Gaspari, F. Mbou, P. Philibert, F. Audran, Y. Morel, A. Biason‐Lauber, C. Sultan
Andrology.2016; 4(2): 263. CrossRef
- A case of mild partial androgen insensitivity syndrome in a juvenile boy
- 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 Kim, Mi Ran Kim, Tae Hi Lee, Hee Jae Joo, Won Il Park, Yoon Sok Chung
- J Korean Endocr Soc. 2008;23(4):277-283. Published online August 1, 2008
- DOI: https://doi.org/10.3803/jkes.2008.23.4.277
- 1,543 View
- 23 Download
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Abstract
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- 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.
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