[Show abstract][Hide abstract] ABSTRACT: To explore the clinical and molecular genetic characteristics of a Chinese female patient with partial 17α-hydroxylase/17, 20 lyase deficiency (17OHD), a rare type of congenital adrenal hyperplasia.
Her clinical features and laboratory data were collected. Genomic DNA was extracted from leukocytes of peripheral blood of her and her mother. All eight exons of CYP17A1 gene, including flanking regions of introns, were amplified by PCR. The mutations of CYP17A1 gene were identified by direct sequencing or cloning and sequencing the amplified DNA fragments.
The patient presented with hypertension, hypokalemia and irregular menstruation. DNA sequencing results demonstrated a compound heterozygous mutation in CYP17A1 gene. One allele of her had the deletion of phenylalanine (TTC) at either codon 53 or 54 and the other allele contained a base transversion at codon 329 (TAC/AA) and leading to a missense mutation of tyrosine to lysine and the open reading frame shift following this codon to produce a truncated enzyme with 417 amino acids and without activity site. Her mother was a heterozygous carrier of the latter allele.
The partial 17OHD in this patient is caused by a compound heterozygous mutation in CYP17A1 gene.
No preview · Article · Sep 2011 · Zhonghua yi xue za zhi
[Show abstract][Hide abstract] ABSTRACT: To summarize the characteristics, differential diagnosis and management of incomplete 17 alpha-hydroxylase/17, 20-lyase deficiency (17 OHD) of Chinese patients.
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.
Four cases of 46, XX incomplete 17 OHD were reported. The clinical characteristics included female phenotype, various degrees of breast development and absent or sparse axillary/pubic hair, oligomenorrhea or secondary amenorrhea, recurrent luteinized ovarian cysts, hypogonadism with persistent hyperprogesteronemia or high serum 17 alpha-hydroxyprogesterone level, with or without hypokalemic hypertension. There were also 2 cases of 46, XY incomplete 17 OHD, in which ambiguous genitalia were present besides hypokalemic hypertension.
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.
No preview · Article · Nov 2007 · Zhonghua fu chan ke za zhi
[Show abstract][Hide abstract] ABSTRACT: To investigate the influence of age on bone mass in Cushing's syndrome patients.
Measurement of bone mineral density (BMD) was conducted among 57 women with Cushing's syndrome (CS) and 49 healthy women. There were 14 CS women and 14 healthy women in the group aged 20 - 29; 27 CS women and 15 healthy women in the group aged 30 - 39; and 16 CS women and 20 healthy women in the group aged 40 - 49.
Among the healthy women the peak bone mass of lumbar spine was in the group aged 30 - 39, while the peak bone mass of hip was in the group aged 20 - 29. The BMD values of the CS women were lower than those of the healthy women, especially those in lumbar spine and in Ward's triangle. The younger the CS women, the lower the BMD Z-score (for the BMD Z-score of lumbar spine P = 0.021, for the BMD Z-score of femoral neck P = 0.020, and for the BMD Z-score of Ward's triangle P = 0.026). Seventeen of the 57 (29.8%) CS women had osteoporosis, 29 (50.9%) of the 57 had osteopenia, and 15 (26.3%) had fractures. The CS women with bone fractures had lower BMD Z-score than those without fractures (for lumbar fracture P = 0.003).
The BMD of CS women is lower than that of the healthy women. Bone loss is more severe in younger CS women than in older ones. CS women with low BMD are prone to have bone fracture.
No preview · Article · Jul 2007 · Zhonghua yi xue za zhi