Endocrinology and Metabolism

Dong Hoon Shin (Shin DH)

2 Articles

Six Cases of Congenital Adrenal Hyperplasia That Were Due to 17alpha-hydroxylase/17,20-lyase Deficiency.: Dong Hoon Shin, Sung Hoon Yu, Young Min Choi, Jung Gu Kim, Sang Wan Kim, Chan Soo Shin, Kyong Soo Park, Seong Yeon Kim; J Korean Endocr Soc. 2009;24(2):109-115. Published online June 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.2.109

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17alpha-hydroxylase/17,20-lyase deficiency is a rare phenotype of congenital adrenal hyperplasia (CAH), and this is characterized by hyporeninemic hypertension, primary amenorrhea and abnormality of the secondary sexual characteristics (pseudohermaphroditism in men). This type of CAH is usually misdiagnosed at first as mineralocorticoid induced hypertension with primary aldosteronism, but primary amenorrhea with deficient sex hormone is a clue for making the correct diagnosis. The authors experienced 6 cases of 17alpha-hydroxylase/17,20-lyase deficiency in patients who ranged from 15 to 42 years of age. 4 cases were diagnosed according to the investigation of their mineralocorticoid-induced hypertension and 2 cases their primary amenorrhea and sexual infantilism. All of them had hypokalemia, hyporeninemic hypertension and an atrophied uterus and ovaries. In the genotypic male (46 XY), the testicles were atrophied in the abdominal cavity. The levels of cortisol, estrogen and dehydroepiandrosterone sulfate (DHEAS) were low, but the levels of progesterone and 11-deoxycorticosterone were high. Therefore, the diagnosis of 17alpha-hydroxylase/17,20-lyase deficiency should be considered in female patients who present with both sexual infantilism and mineralocorticoid hypertension. We report on these cases with a brief review of the literature.

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Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency
Eun Yeong Mo, Ji-young Lee, Su Yeon Kim, Min Ji Kim, Eun Sook Kim, Seungok Lee, Je Ho Han, Sung-dae Moon
Endocrinology and Metabolism.2018; 33(3): 413. CrossRef
17α-hydroxylase Deficiency Mimicking Hyperaldosteronism by Aldosterone-producing Adrenal Adenoma
Yun Kyung Cho, Hyeseon Oh, Sun-myoung Kang, Sujong An, Jin-Young Huh, Ji-Hyang Lee, Woo Je Lee
The Korean Journal of Medicine.2016; 91(2): 191. CrossRef

Three Cases of Autoimmune Thyroid Disease in a Family through Three Generation.: Byoung youp Kim, Min young Lee, In Gyun Oh, DO Hyoung Kim, Hak Chan Kim, Sang Eok Kim, Seung Hae Han, Dong Hoon Shin, Eun Sil Kim, Chong Soon Kim; J Korean Endocr Soc. 2001;16(2):238-244. Published online April 1, 2001

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Abstract PDF: According to recent studies, the immunogenetic factors are thought to be account for a part of the etiopathogenesis of autoimmune thyroid disease. In Korea, there was one report on the relationship between HLA DR5, DR8, B13 and autoimmune thyroid disease. There were also several reports on a familial hereditary transmission of autoimmune thyroid disease in other countries but not in Korea. We describe the occurrence of autoimmune thyroid disease that affected three members of a family through three generations. This is the first report on familial hereditary transmission of autoimmune thyroid disease in Korea. We report on an 80-year-old woman who presented with Hashimoto's thyroiditis, her 53-year-old daughter who had Graves' disease, and her 29-year-old grand-daughter who had Graves' disease. In order to identify the immunogenetic influence in these cases, HLA haplotypes & thyroid autoantibody were studied. HLA DRB3*02 was obseved in each of the patents. HLA DQB1*0301, DR11, DQB1*05031 and DR14 were observed in the two cases. However, HLA B13, DR5 and DR8 were not observed. The patients are currently undergoing follow-up using PTU, methimazole and synthyroid medication.

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