- A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene.
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Jun Mo Sung, Hyung Young Yoon, Hyon J Kim, Mi Ran Kim, Tae Hi Lee, Hee Jae Joo, Won Il Park, Yoon Sok Chung
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J Korean Endocr Soc. 2008;23(4):277-283. Published online August 1, 2008
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DOI: https://doi.org/10.3803/jkes.2008.23.4.277
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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.
- A Case of Intravenous Pamidronate-Related Osteonecrosis of the Jaw in a Patient with Waldenstrom's Macroglobulinemia.
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Da Mi Lee, Mi Sun Ann, Tae Ho Kim, Tae Jin Park, Yoon Sok Chung, Joon Seong Park, Seung Il Song, Kyi Beom Lee, Hee Jae Joo
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J Korean Endocr Soc. 2008;23(3):210-214. Published online June 1, 2008
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DOI: https://doi.org/10.3803/jkes.2008.23.3.210
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Abstract
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- Bisphosphonate-related osteonecrosis of the jaw (BRONJ) is a rare, but serious, side effect of bisphosphonate therapy that produces significant morbidity in affected patients. It is characterized by poor wound healing and spontaneous intra-oral soft tissue breakdown, which lead to exposure of necrotic maxillary and mandibular bone.
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Citations
Citations to this article as recorded by  - Dental sinus tracts mimicking scrofuloderma: cutaneous presentation of underlying bisphosphonate-related osteonecrosis of the jaw
H.-S. Kang, J.-W. Lee, J.-S. Kim
Clinical and Experimental Dermatology.2011; 36(6): 624. CrossRef
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