- Six Cases of Congenital Adrenal Hyperplasia That Were Due to 17alpha-hydroxylase/17,20-lyase Deficiency.
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Dong Hoon Shin, Sung Hoon Yu, Young Min Choi, Jung Gu Kim, Sang Wan Kim, Chan Soo Shin, Kyong Soo Park, Seong Yeon Kim
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J Korean Endocr Soc. 2009;24(2):109-115. Published online June 1, 2009
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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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Citations
Citations to this article as recorded by  - 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
- Insulin-Like Growth Factors and Their Bindign Proteins in Uterine Leiomyoma Pretreated with Gonadtropin Releasing Hormone Agonist.
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Ki Chul Kim, Jung Gu Kim, Jin Yong Lee
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J Korean Endocr Soc. 1997;12(3):364-375. Published online January 1, 2001
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- BACKGROUND
Uterine leiomyoma is the most common pelvic tumor, occurring in 20-25% of women in reproductive age. Gonadotropin releasing hormone agonist (GnRHa) has been reognized as a temporary medical management for this disorder. The etiology of these tumors is unknown but it has been shown that the insulin-like growth factors (IGF-I, IGF-II) are promoters of growth in nongynecologic tumors. Several recent studies have suggested the possible role of IGFs in human leiomyoma growth. The IGF binding proteins (IGFBPs) are believed to modulate actions of IGF and to have IGF-independent actions. The purpose of this study was to evaluate the type of IGF and IGFBP which may be involved in leiomyoma growth and to investigate a possible IGF related mechanism of action of GnRHa. METHOD: The IGFs and IGFBPs were measured by double antibody radioimmunoassay, western ligand blot and immunoprecipitation in the tissue cytosols of normal uterine myometria (n=15), nontumorous myometria adjacent to a leiomyoma and leiomyoma from patients nontreated (n=15) and treated (n=10) with GnRHa. RESULTS: The mean IGF-I and IGF-II level were significantly higher in leiomyoma from untreated patients than in the adjacent myometrium and normal myometrium but no significant differences in these IGF levels between normal myometrium and adjacent myometrium were noted. The IGFBP-2, IGFBP-3 and 26kDa IGFBP were detected variably but IGFBP-4 was consistently present in all tissues. There were no significant differences in the relative intensity for IGFBP-4 and the frequency of IGFBPs between leiomyoma, adjacent myometrium and normal myometrium from untreated patients. The IGF-I, IGF-II levels and the relative intensity of IGFBP-4 in leiomyoma from GnRHa-treated patients were significantly lower than those in untreated patients, but these levels in the adjacent myometrium were comparable. The frequency of each IGFBP in leiomyoma and the adjacent myornetrium from GnRHa-treated patients did not significantly differ from untreated patients. CONCLUSION: Both IGF-I and IGF-II are involved in the growth of leiomyoma and GnRHa may in part act to decrease size of leiomyoma by regulating the local levels of IGF-I, IGF-II and IGFBP-4.
- A case of male pseudohermaphroditism due to 17 ?hydroxylase deficiency.
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Chang Soo Park, Me Lee Lee, Eun Hwan Jung, Jung Gu Kim
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J Korean Endocr Soc. 1993;8(3):363-369. Published online January 1, 2001
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- No abstract available.
- Hormone replacement therapy using estraderm TTS and dydrogesterone in postmenopausal women.
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Jin Yong Lee, Sung Soo Kim, Young Min Choi, Chang Jae Shin, Jung Gu Kim, Shin Yong Moon, Yoon Seok Chang
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J Korean Endocr Soc. 1993;8(2):187-196. Published online January 1, 2001
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- No abstract available.
- Ovulation induction with combined gonadotropin-releasing hormone agonist(K-Trp-Luteinizing houmone-Releasing hormone:decapeptyl) and gonadotropins in women with polycystic ovarian disease.
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Jin Yong Lee, Chung Hoon Kim, Seok Hyun Kim, Young Min Choi, Chang Jae Shin, Jung Gu Kim, Shin Yong Moon, Yoon Seok Chang
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J Korean Endocr Soc. 1993;8(2):171-179. Published online January 1, 2001
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- No abstract available.
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