Abstract | OBJECTIVES: To summarize the characteristics, differential diagnosis and management of incomplete 17 alpha-hydroxylase/17, 20-lyase deficiency (17 OHD) of Chinese patients. METHODS: Six cases of incomplete 17 OHD from Peking Union Medical College Hospital were studied retrospectively through analyzing their clinical data, and the molecular pathogenic mechanism was discussed after literature review. RESULTS: CONCLUSIONS: Incomplete 17 OHD is a very rare form of congenital enzymatic deficiencies of steroid synthesis, which should be included in the differential diagnosis when there are menstrual disorders, sexual infantilism, recurrent ovarian cysts or ambiguous genitalia. Under such circumstances, hyperprogesteronemia offers a valuable clue for further investigation.
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Authors | Qin-Jie Tian, Yi-Wen Zhang, Zhao-Lin Lu, Gui-Hua Sha, Hui Gao |
Journal | Zhonghua fu chan ke za zhi
(Zhonghua Fu Chan Ke Za Zhi)
Vol. 42
Issue 10
Pg. 670-4
(Oct 2007)
ISSN: 0529-567X [Print] China |
PMID | 18241541
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Estrogens
- Glucocorticoids
- 17-alpha-Hydroxyprogesterone
- Luteinizing Hormone
- Follicle Stimulating Hormone
- Steroid 17-alpha-Hydroxylase
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Topics |
- 17-alpha-Hydroxyprogesterone
(blood)
- Adrenal Hyperplasia, Congenital
(complications, diagnosis, enzymology)
- Adult
- Amenorrhea
(etiology)
- Diagnosis, Differential
- Estrogens
(therapeutic use)
- Female
- Follicle Stimulating Hormone
(blood)
- Glucocorticoids
(therapeutic use)
- Humans
- Hypokalemia
(etiology)
- Luteinizing Hormone
(blood)
- Ovarian Cysts
(etiology)
- Retrospective Studies
- Steroid 17-alpha-Hydroxylase
(genetics, metabolism)
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