- A Case of Congenital Adrenal Hyperplasia due to 11beta-Hydroxylase Deficiency.
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Ohk Hyun Ryu, Hye Jin Yoo, Soo Yeon Park, Soon Beom Kwon, Sang Soo Park, Hee Young Kim, Kye Won Lee, Ji A Seo, Jeong Heon Oh, Sin Gon Kim, Nan Hee Kim, Kyung Mook Choi, Sei Hyun Baik, Dong Seop Choi
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J Korean Endocr Soc. 2004;19(1):58-63. Published online February 1, 2004
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- Congenital adrenal hyperplasia refers to a group of autosomal recessive disorders that is defective in the synthesis of cortisol. The enzymes most often affected are 21-hydroxylase and 11beta hydroxylase. The low levels of cortisol stimulate the pituitary gland to release ACTH. Chronic elevation of the ACTH level causes bilateral adrenal hyperplasia and a secondary increase in androgen formation. We examined a 19 year-old woman presented with clitoral hypertrophy and vaginal spotting. The subjects basal level of serum cortisol was low, but the serum levels of ACTH, 17a-hydroxyprogesterone, deoxy-corticosterone were elevated. The urinary excretions of 17-ketosteroids and 17-hydroxycorticosteroids were also increased. The karyotyping study and transrectal ultrasonography showed normal findings. The patient underwent clitoris reduction surgery and received hydrocortisone. To the best of our knowledge, this is the first case of 11beta-Hydroxylase deficiency in Korea.
- A Case of Multiple Endocrine Neoplasia 2A with Germ Line Mutation of RET Gene.
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Hee Young Kim, Ji Yeon Lee, Sung Bum Kim, Kye Won Lee, Ji A Seo, Jeong Heon Oh, Sin Gon Kim, Kyung Mook Choi, Sei Hyun Baik, Dong Seop Choi, Nan Hee Kim
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J Korean Endocr Soc. 2003;18(5):481-488. Published online October 1, 2003
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- Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominantly inherited disease, composed of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The activation of germ-line mutations in the RET proto-oncogene are responsible for MEN 2. The analysis of the RET mutations has replaced the measurement of the calcitonin level in the diagnosis of the MEN carrier state. Specific RET codon mutations correlate with the MEN 2 syndromic variant, the age at onset of the medullary thyroid carcinoma (MTC) and the aggressiveness of the MTC. Herein, our experience of a 47-year-old woman, who had a bilateral pheochromocytoma and MTC, and MEN 2A confirmed by the detection of an RET proto-oncogene mutation at axon 10 on codon 618, is reported. Her sister was found to have the same mutant gene. After a total thyroidectomy and bilateral adrenalectomy, the calcitonin and catecholamine levels were normalized, and the patient discharged without problems. This case is reported, with a review of the literature.
- A Case of Afrenocortical Carcinoma Associated with Multiple Paraganglioma.
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Kyung Mook Choi, Jeong Heon Oh, Nan Hee Kim, Yong Hyun Kim, Ae Ree Kim, Chul Hwan Kim, Sang Jin Kim, Sei Hyun Baik, Dong Seop Choi
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J Korean Endocr Soc. 1999;14(3):599-604. Published online January 1, 2001
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- Simultaneous oceurrence of adrenocortical tumor and pheochromocytoma is extremely rare. Coexistence of adrenal tumor and pheochromocytoma was first reported by Cope in 1952 and some other cases were reported after that. But there was no report about coexistence of adrenocortical carcinoma and paragangliomas. Recently, we experienced a case of adrenocortical carcinoma associated with multiple paragangliomas. A 35-year-old woman was admitted to the hospital because of left upper abdominal pain. A palm-sized fum tender mass was palpated at left upper quadrant. Hormonal studies revealed pheochromocytomas feature. Fmergency operation was performed because of the possibility of intemal hemorrhage of the tumor. Operator found 10 cm sized mass in left adrenal area and also the other 5 small tumors adjacent to IVC. Pathologic report revealed that adrenal mass was adrenocortical carcinoma with hemorrhagic necrosis and tumors adjacent to IVC were paragangliomas. This patient was the first case of adrenocortical carcinoma with multiple paragangliomas in the world. So we report this case with a review of literature.
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