- Case Reports and Estimated Prevalence of Adrenal Pheochromocytoma in Patients with Neurofibromatosis Type I in Korea.
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Ju Yang Jung, Seun Joo Ahn, Hyung Young Yoon, Jung Min Ko, Yoon Sok Chung
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Endocrinol Metab. 2011;26(3):258-262. Published online September 1, 2011
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DOI: https://doi.org/10.3803/EnM.2011.26.3.258
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- We report three patients with adrenal pheochromocytoma who were associated with type I neurofibromatosis. Two of them were asymptomatic, but one case involved hypertension. We reviewed medical records and adrenal imaging, and estimated the prevalence of adrenal pheochromocytoma among neurofibromatosis type I patients in one university hospital in Korea. A total of 658 patients were coded for neurofibromatosis type I (Q85.0 with International Classification of Diseases 10 version) with clinical impression, but only 371 were confirmed via 1997 National Institute of Health criteria. Adrenal images were generated in 203 patients, and 3 of them were diagnosed with pheochromocytoma. According to the results of this study, the estimated prevalence of adrenal pheochromocytoma in type I neurofibromatosis was 0.30-1.48%.
- A Case of Septo-optic Dysplasia Associated with Anterior Pituitary Hormone Abnormalities.
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Jin Woo Lee, Eui Kyung Hwang, Tae Ho Kim, Hyung Young Yoon, Jae Ho Jung, Yong Won Choi, Suk Woo Yong, Jae Hong Ahn, Sun Yong Kim, Ho Sung Kim, Yoon Sok Chung
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J Korean Endocr Soc. 2009;24(1):33-37. Published online March 1, 2009
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DOI: https://doi.org/10.3803/jkes.2009.24.1.33
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- Septo-optic dysplasia (SOD) is a rare congenital malformation syndrome that is manifested by a triad of optic nerve hypoplasia, midline brain abnormalities and hypopituitarism. It is known to be associated with homeobox gene HESX1 mutation in some familial cases.
- 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.
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