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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
- 6,957 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 Patient with Primary Amyloidosis Misrecognized as Thyrotoxicosis-induced Heart Failure.
- Seok Ju Lee, Seung Hwan Lee, Jung Yeon Chin, Youn Mi Song, Sung Won Lee, Min Hee Kim, Mi Ja Kang, Kang Woo Lee, Hyuk Sang Kwon, Kun Ho Yoon, Ho Young Son, Bong Yun Cha
- J Korean Endocr Soc. 2008;23(5):332-336. Published online October 1, 2008
- DOI: https://doi.org/10.3803/jkes.2008.23.5.332
- 1,719 View
- 20 Download
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Abstract
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- Amyloidosis is caused by deposition of insoluble amyloid protein in the extracellular space of organs and tissues. The causes of amyloidosis are classified as primary, secondary, and hereditary, and symptoms develop according to which organ is involved. Cardiac amyloidosis induces cardiomyopathy and is developed by deposition of amyloid proteins in cardiac tissue. We diagnosed a patient with rhabdomyolysis and thyrotoxicosis with underlying Graves' disease 5 years ago. The patient was readmitted recently complaining of general weakness and mild dyspnea, and was diagnosed as relapsed thyrotoxicosis. An echocardiogram was performed for the evaluation of dyspnea and the findings were compatible with infiltrative cardiomyopathy due to amyloidosis. A biopsy of the abdominal subcutaneous fat and rectal mucosa was performed, and diagnosis was amyloidosis with histologic findings. The cause of heart failure was therefore cardiac amyloidosis rather than thyrotoxicosis. This case indicates the importance of evaluating the cause of heart failure in patients with thyrotoxicosis.
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