High prevalence of incidental brain findings in primary dysmenorrhoea.

BACKGROUND: Primary dysmenorrhoea (PDM) is inexorably common. PDM women suffer from cramping pain in the lower abdomen that starts with menstruation and lasts for 24-72 h. Up to 90% of adolescent girls and more than 50% of menstruating women worldwide report suffering from it. Ten to 20% of PDM women describe their suffering as severe and distressing. However, nothing is known regarding the association of PDM with possible brain anomalies or abnormalities. METHODS: High-resolution T1-weighted anatomical brain magnetic resonance images (MRI) were acquired for each subject and inspected for incidental findings (normal variants and abnormalities) as a routine procedure in our PDM-related multimodal neuroimaging studies. Altogether, 330 right-handed young women [otherwise healthy PDMs = 163; non-PDM healthy controls (HCs) = 167] were enrolled during the period of 2006-2014. Binomial proportion test was performed for between-group comparisons. RESULTS: PDMs demonstrated significantly higher prevalence of overall incidental brain MRI findings (PDMs: n = 18, 11.0%; HCs: n = 6, 3.6%; p = 0.005) that should be ascribed to a preponderance of normal variants (PDMs: n = 16, 9.8%; HCs: n = 3, 1.8%; p = 0.001), especially cavum septum pellucidum. No significant between-group difference of abnormal findings was found (PDMs: n = 2, 1.2%; HCs: n = 3, 1.8%; p = 0.336). CONCLUSIONS: We report here that otherwise healthy PDMs are associated with high prevalence of normal variants but not brain abnormalities. Our observations invite further epidemiological and neuroscientific studies.

Etiology of a genetically complex seizure disorder in Celf4 mutant mice.

Mice deficient for the gene encoding the RNA-binding protein CELF4 (CUGBP, ELAV-like family member 4) have a complex seizure phenotype that includes both convulsive and non-convulsive seizures, depending upon gene dosage and strain background, modeling genetically complex epilepsy. Invertebrate CELF is associated with translational control in fruit fly ovary epithelium and with neurogenesis and neuronal function in the nematode. Mammalian CELF4 is expressed widely during early development, but is restricted to the central nervous system in adults. To better understand the etiology of the seizure disorder of Celf4 deficient mice, we studied seizure incidence with spatial and temporal conditional knockout Celf4 alleles. For convulsive seizure phenotypes, it is sufficient to delete Celf4 in adulthood at the age of 7 weeks. This timing is in contrast to absence-like non-convulsive seizures, which require deletion before the end of the first postnatal week. Interestingly, selective deletion of Celf4 from cerebral cortex and hippocampus excitatory neurons, but not from inhibitory neurons, is sufficient to lower seizure threshold and to promote spontaneous convulsions. Correspondingly, Celf4 deficient mice have altered excitatory, but not inhibitory, neurotransmission as measured by patch-clamp recordings of cortical layer V pyramidal neurons. Finally, immunostaining in conjunction with an inhibitory neuron-specific reporter shows that CELF4 is expressed predominantly in excitatory neurons. Our results suggest that CELF4 plays a specific role in regulating excitatory neurotransmission. We posit that altered excitatory neurotransmission resulting from Celf4 deficiency underlies the complex seizure disorder in Celf4 mutant mice.

Intraperitoneal cancer spread after laparoscopic cystectomy for mature teratoma with malignant transformation.

Laparoscopic surgery for ovarian dermoid cysts has been accepted. However, its potential limitations should be considered, including technique difficulty, intraoperative tumor spillage and malignant transformation. We report a case of ovarian dermoid cysts with malignant transformation that was initially treated using laparoscopic cystectomy, but was complicated by intraperitoneal tumor dissemination.

Diagnosis and localization of testosterone-producing ovarian tumors: imaging or biochemical evaluation.

OBJECTIVE: In the testosterone-secreting ovarian tumor (TSOT), the role of whole-body positron emission tomography (WBPET) with (fluorine-18)-2-deoxyglucose scanning (FDG) and/or [(11)C]acetate is unclear, although it presents a rationale that these functional tumors would be more active and have increased use of glucose and oxygen consumption than normal tissues. CASE: A 52-year-old woman had a history of steroid cell tumors of the right ovary (IIA) and she received staging surgery including total hysterectomy, salpingo-oophorectomy, and lymph node sampling. Reelevated serum levels of T (5.24 ng/ml) were noted 52 months later. The patient received serial preoperative examinations including WBPET with FDG and acetate, ultrasound, computerized tomography (CT), and magnetic resonance imaging (MRI) to evaluate her recurrence. A suspicious mass on the liver was found on ultrasound, CT, and MRI. The ultrasound-guided biopsy was performed three times, and each of them failed to provide any pathological confirmation. Functional imaging studies showed an abnormal uptake in WBPET using [(11)C]acetate but were negative using FDG. Because of the size of the tumor, the patient's hesitatancy toward an operation, and good previous response to gonadotropin-releasing hormone (GnRH) agonist treatment, the patient received a six-cycle GnRH agonist treatment. Serum T levels returned to normal limits after administration of the first dose of GnRH agonist. At follow-up, serum hormone levels were all within the normal ranges consistent with menopause, but the size of the metastatic tumor was constant. The tumor was then completely excised pathologically proven to be a metastatic TSOT. CONCLUSIONS: Recurrent TSOT might be successfully detected using WBPET with [(11)C]acetate. In addition, GnRH agonist could be tried in patients with TSOT if initial responses were excellent and surgical intervention could not be performed.

Altered mRNA expression of sialyltransferase in squamous cell carcinomas of the cervix.

OBJECTIVE: Increased sialylation has been reported in various kinds of cancers, but to date, sialylation of cervical carcinoma has never been evaluated. This study of the changes in messenger ribonucleic acid (mRNA) expression of the four sialyltransferases (ST3Gal I, ST3Gal III, ST3Gal IV, and ST6Gal I) in a normal cervix and that with FIGO stage IB1 squamous cell carcinoma was undertaken to assess the extent of sialylation associated with establishment of the carcinoma. METHODS: Alterations in ST mRNA expression in FIGO IB1 cervical cancer (n = 30) and normal cervixes (n = 30) were examined by semiquantitative reverse transcription-polymerase chain reaction (RT-PCR). RESULTS: ST6Gal I expression was enhanced in squamous cell carcinoma of the cervix (P = 0.026, Mann-Whitney U test), but mRNA expression from the other three STs (ST3Gal I, ST3Gal III, and ST3Gal IV) was significantly down-expressed in squamous cell carcinoma of the cervix compared to the normal cervix (P = 0.003, P < 0.001, and P = 0.001, respectively). High ST6Gal I expression was associated with more invasive properties of cervical cancer, such as deep stromal invasion, lymph or vascular space involvement, and poor differentiation (P = 0.010, P < 0.001, P < 0.001, respectively). CONCLUSIONS: A combination of enhanced ST6Gal I mRNA expression and decreased mRNA expression from ST3Gal I, ST3Gal III, and ST3Gal IV might be important in cervical cancer. Future studies will investigate whether RT-PCR detection of the expression of these enzymes can be helpful for prognostic purposes.

Nitric oxide induces extensive apoptosis in endometrial epithelial cells in the presence of progesterone: involvement of mitogen-activated protein kinase pathways.

During trophoblast invasion, luminal and glandular endometrial epithelial cells (EEC) have been found to undergo apoptosis through undetermined mechanisms. We postulate that nitric oxide (NO) and progesterone may mediate apoptosis in EEC because they are produced by trophoblasts at concentrations that can cause apoptosis in non-uterine cells. Using a cultured EEC line, RL95-2, we found that sodium nitroprusside (SNP) or S-nitroso-N-acetylpenicillamine (SNAP), two commonly used NO-releasing agents, caused the death of EEC in a dose-dependent manner and progesterone markedly enhanced NO-induced cytotoxicity. Cells treated with NO/progesterone showed a significant increase in the percentage of condensed nuclei, as detected by DAPI staining, and in caspase-3 activity, indicating that these cells underwent apoptosis. Immunoblot analysis revealed that SNP/NO could activate extracellular signal-regulated kinase (ERK) and, to a lesser extent, p38 mitogen-activated protein kinase (MAPK). While pretreatment with PD98059 (an ERK inhibitor) did not prevent cell death, the addition of SB203580 (a p38 MAPK inhibitor) effectively rescued the cells from NO/progesterone treatment. Moreover, SNP/NO-induced p38 MAPK activation was significantly up-regulated by progesterone. Our results demonstrate that NO and progesterone may synergistically activate p38 MAPK to induce apoptosis in EEC, a process that may facilitate implantation.

Primary epithelial ovarian carcinoma in Taiwanese women.

PURPOSE OF INVESTIGATION: Primary epithelial ovarian carcinoma is common in industrial countries but rare in the Orient. In fact, it is still a rare disease in Taiwan. In this article, we report the general data of Taiwanese patients with primary epithelial ovarian carcinoma. METHODS: In this retrospective study we used univariate and multivariate analysis models to analyze the prognosis of patients with surgically confirmed primary epithelial ovarian carcinoma. One hundred and ninety-four patients from 1990 to 1996 were identified and enrolled in this study. RESULTS: The mean follow-up time was 44.7 months with an interval between 15.1 months and 105.9 months. Univariate analysis showed postmenopausal status, advanced stage, presence of lymph node metastasis, poor differentiation, and suboptimal surgery as risk factors for disease recurrence and subsequent deaths. Multivariate analysis demonstrated stage as the most important factor correlated with recurrent disease (risk ratio: 7.303 and 5.409, respectively), followed by optimal surgery (RR: 2.447), and cellular differentiation (RR: 1.677). CONCLUSIONS: Our data on the Taiwan population were consistent with other reports of different races. Early detection for primary epithelial ovarian cancer is of great importance because stage is still the most important predictor in disease-free survival and disease-related deaths. Application of the most reliable and acceptable methods of screening is our goal in the next century after weighing benefits over costs.

Major complications of operative and diagnostic laparoscopy for gynecologic disease.

STUDY OBJECTIVE: To compare complication rates of diagnostic and operative laparoscopy. Design. Retrospective study (Canadian Task Force classification II-2). SETTING: One medical center and three teaching hospitals. PATIENTS: Six thousand four hundred fifty-one women with various indications for laparoscopic diagnosis and/or laparoscopic surgery from January 1994 through June 1999. INTERVENTION: Diagnostic and operative laparoscopies. MEASUREMENTS AND MAIN RESULTS: Forty-two major complications occurred that directly resulted in one death. One patient had stomach injury, 3 had major vessel injuries, 5 had ureter injuries, 10 had intestinal injuries, and 23 had bladder injuries. The overall complication rate for all laparoscopies was 0.65% (42/6451); however, it rose to 0.80% (39/4865) for operative laparoscopy compared with 0.19% for diagnostic laparoscopy (3/1586; p <0.001, Fisher's exact test). CONCLUSION: Laparoscopic surgery is appropriate for managing various gynecologic diseases and has an acceptable complication rate. However, operative laparoscopy should be performed carefully because its rate of complications is significantly higher than that of diagnostic laparoscopy, especially for laparoscopic-assisted vaginal hysterectomy. (J Am Assoc Gynecol Laparosc 8(1):68-73, 2001)

Excision of mature teratoma using culdotomy, with and without laparoscopy: a prospective randomised trial.

OBJECTIVE: To compare the results of removing mature teratoma with laparoscopy or without laparoscopy. DESIGN: A prospective, randomised trial. SETTING: Medical centre. PARTICIPANTS: Seventy-nine women with mature teratomas identified using results of ultrasound examinations and biochemical markers. INTERVENTION: Cystectomy with laparoscopic approach or without laparoscopic approach through a culdotomy. METHODS: Patients were randomly assigned to have their cysts removed via vaginal cystectomy without laparoscopy (n = 37, Group A) or laparoscopic cystectomy via culdotomy opening (n = 42, Group B). Inclusion criteria were history of vaginal delivery, no previous abdominal surgery, no history of pelvic inflammatory disease, no medical illness, and no presenting symptoms. Eight women randomised to Group A withdrew before surgery. The laparoscopically resected tumours were each put into a cellulose bag, and tumours without laparoscopic-assistance were removed directly via the vagina. RESULTS: Blood loss in Group A (88 +/- 37 ml) was significantly more than that in Group B (64 +/- 20 ml, P = 0.000). The post-operative recovery times were 20 and 17 hours, respectively (P = 0.030). The rates of successful surgery were 58.6 and 97.6%, respectively (P = 0.002). The spillage rates were 44.8% and 19.0%, respectively (P = 0.006). There were no significant differences in tumour size, patient age, and operative time between groups. CONCLUSION: Cystectomy without assistance of laparoscopy could be applied to manage mature teratoma of the ovary; however, because of the difficulty of this technique, we had high percentages of tumour spillage and more blood loss during operation and a high percentage of patients who required conversion to laparotomy compared with laparoscopic cystectomy. We favoured laparoscopically assisted cystectomy to manage mature teratoma.

BRCA1 mutations in Taiwanese with epithelial ovarian carcinoma and sporadic primary serous peritoneal carcinoma.

BACKGROUND: Germline BRCA1 mutations of sporadic ovarian cancers are presumed to be rare events, except among specific populations. To date, the status of germline BRCA1 mutations in Taiwanese with primary epithelial ovarian carcinoma (PEOC) is still unknown. In this study, we tried to answer part of this question. METHODS: Sixty-four patients documented with PEOC, four patients with family history of breast and/or ovary cancer syndrome and five patients with sporadic primary serous peritoneal carcinoma (PSPC) were enrolled in this retrospective study from January 1994 through June 1999. At the same time, 50 normal healthy Taiwanese without family history were enrolled in this study. Germline DNA from these patients was screened for mutations in the BRCA1 gene using polymerase chain reaction-based single-stranded conformation polymorphism analysis (PCR-SSCP). Shifting DNA bands were sequenced. RESULTS: One of the 64 patients with PEOC (1.6%) exhibited germline BRCA1 heterozygous mutation which was exon11 single-base substitution at nucleotide1047 (CAG to TAG). One of the five patients with PSPC (20%) exhibited an exon11 single-base substitution at nucleotide 914 (TCT to TCC) with resultant silent mutation. One of the normal healthy Taiwanese (2%) was found to have an exon 2 single-base substitution at nucleotide 152 (A-->C) which was also a silent mutation. No mutations of BRCA1 were detected in four patients with a family history of breast and/or ovarian cancer. CONCLUSIONS: Based on this study, it was very difficult to obtain precise data to prove the value of applying genetic testing of BRCA1 mutations in Taiwanese patients with sporadic epithelial ovarian cancers or sporadic PSPC and even with a family history of breast and/or ovarian cancer because of its rare event and because of the too small number of cases available in this study.

Brain-damaged survivors after intrauterine death of a monochorionic twin.

BACKGROUND: Potential risks for a surviving twin after fetal death of a co-twin in twin-to-twin transfusion syndrome (TTTS) has been documented. Although some studies suggest ending a twin pregnancy after a single fetal death as soon as possible in order to minimize the risks of thromboembolic complications in the surviving twin, we are more concerned about the risks of a premature birth. In this study, we searched for a potential marker to predict thromboembolic complications in the surviving twin. METHODS: From 1993 to 1998, nine women in two teaching hospitals had pregnancies complicated by TTTS and the death of one fetus. In addition to routine ultrasound examinations and obstetric monitoring, all patients had disseminated intravascular coagulation tests. The outcome of the surviving fetus was recorded. RESULTS: Three patients had silent and minimal coagulopathy (33%) that revealed only the presence of D-dimer. Among these three patients, two had a disappearance of serum D-dimer, but the other one had persistent D-dimer levels for more than 5 weeks and delivered a fetus with a cerebral infarction. Except for the above-mentioned fetus, all surviving fetuses were normal and healthy and were delivered at the median gestational age of 33 (range, 31-36) weeks. Of the nine surviving children, the mean interval between fetal death of one twin and delivery of the healthy twin was 22.7 days, ranging from 3 days to 47 days. CONCLUSIONS: All patients having TTTS associated with one fetal death should be carefully monitored for coagulopathy; the appropriate time for delivery might depend on the duration of persistent D-dimer in the maternal blood. The long-term presence of D-dimer in the maternal serum may indicate a severe underlying thromboembolic complication in the surviving twin after intrauterine death of a monochorionic twin. Due to the increased risks of morbidity in premature births, the benefit of early termination of pregnancy in order to protect against subsequent sequelae in the surviving twin is minor and remains an area for future research.

Isolated tubal torsion managed laparoscopically.

Adnexal cystic lesions in women of reproductive age are common. Most are functional ovarian cysts, followed by paraovarian cysts, hydrosalpinx, and adnexal torsion. A 34-year-old woman experienced mild abdominal pain, nausea, and low-grade fever. She received empiric antibiotics in an outpatient clinic after a diagnosis of tubo-ovarian abscess. After 3 days she was referred to our hospital with no improvement in symptoms or signs. Isolated fallopian tube torsion was diagnosed and successfully treated by laparoscopy. Laparoscopy played an important role in making an accurate diagnosis and avoiding unnecessary delays in treatment.

Effects of estrogen on cognition, mood, and cerebral blood flow in AD: a controlled study.

OBJECTIVE: To examine the effects of estrogen therapy on cognition, mood, and cerebral blood flow in patients with AD. BACKGROUND: Some studies have suggested estrogen may be effective in the treatment of AD. However, most of these studies were not controlled adequately. METHODS: Fifty female AD patients were recruited in a randomized, double-blind, placebo-controlled 12-week trial. Each member of the estrogen-treated group received conjugated estrogen (Premarin) 1.25 mg/day. The primary outcome measures were the Cognitive Ability Screening Instrument (CASI), Clinical Dementia Rating (CDR), and Clinician Interview-Based Impression of Change (CIBIC-plus). The secondary outcome measures were Behavioral Pathology in Alzheimer's Disease (BEHAVE-AD), Hamilton Anxiety Rating Scale (HARS), Hamilton Depression Rating Scale (HDRS), and 99mTc hexamethylpropylene amine oxime SPECT of the brain. RESULTS: No meaningful differences were found between the outcome measures (CASI, CDR, CIBIC-plus, BEHAVE-AD, HARS, HDRS, and cerebral blood flow) taken from the estrogen-treated group and those from the control group. CONCLUSION: A 1.25-mg/day dose of Premarin administered for 12 consecutive weeks does not produce a meaningful effect on cognitive performance, dementia severity, behavior, mood, and cerebral perfusion in female AD patients. Because estrogen therapy has been suspected of yielding adverse effects, and its therapeutic effectiveness is in doubt, additional evaluation of its role in AD treatment ought to be conducted.

Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

BACKGROUND: A single nonfunctional chimeric gene with its 5' and 3' ends corresponding to CYP21P and CYP21, respectively, is caused by unequal gene crossover in the CYP21 genes during meiosis. The presence of the chimeric CYP21P/CYP21 molecule can not be detected by conventional PCR methods and therefore may be lost in PCR amplification. This leads to a false result and diagnostic discordance. METHODS: We developed a rapid and direct method to detect a chimeric CYP21P/CYP21 gene that uses a 3'-specific primer for the CYP21 gene and two different 5' primers for both CYP21 and CYP21P to amplify the wild-type CYP21 and the chimeric CYP21P/CYP21 genes. A secondary PCR that can differentiate the chimeric from the wild-type gene was also performed. The PCR product was directly analyzed on agarose gel. RESULTS: After careful titration, we found that earlier failure to detect the chimeric CYP21P/CYP21 gene could be caused by unequal concentrations of two independent alleles as the PCR template or by the lack of primers to amplify chimeric molecules. We successfully amplified the chimeric gene using our improved method. CONCLUSIONS: The chimeric CYP21P/CYP21 is present in a large portion of congenital adrenal hyperplasia patients. By adding a CYP21P/CYP21-specific primer, we were able to amplify and detect both homozygous and heterozygous chimeric genes. Therefore, our new PCR-based assay is a more effective way to analyze congenital adrenal hyperplasia mutations.

Posterior uterine wall rupture during labour.

Vaginal births after Caesarean section (VBAC) are well-accepted procedures when pregnant women do not have any contra-indications. The possibilities of the uterine dehisence and rupture during VBAC should always be considered. This occurrence is usually related to the previous scar tissue and subsequent risk is acceptable. Nevertheless, rupture that occurs in presumably normal tissue areas of the uterus instead of in scar tissue areas with resultant perinatal death is extremely rare. We present a 31 year old woman who had posterior uterine rupture when she tried VBAC at 38 weeks gestation. During the course of VBAC, she had a smooth labour course without use of any augmentation medication, but her condition was complicated with uterine rupture without any premonitory signal. It resulted in maternal shock and sequentially the death of the newborn 7 days after delivery. By reviewing this case report, we should keep in mind that prompt response to every woman during labour is of paramount importance to avoid repeating the occurrence of uterine rupture, partly because uterine rupture could occur without prominent signals and partly because subsequent dangers seem to be those created by acts of omission. Finally, the benefits and safety of VBAC have not been undermined because this patient is an isolated and extremely rare case.

Vaginal obliteration after total body irradiation and chemotherapy as treatment for acute myeloid leukemia.

Although radiotherapy is an integral part in the management of certain types of hematological malignancies, its effect on the reproductive system has been well documented. We report a rare complication where a patient had complete vaginal obliteration after receiving a dose of total body irradiation (1575 cGy) as part of her treatment for acute myeloid leukemia. A 37-year-old married woman, G3P2, underwent high-dose cyclophosphamide accompanied by high dose (1575 cGy) total body irradiation (TBI) as part of her treatment for acute myeloid leukemia (AML: m1) when she was 35 years of age. After TBI, the patient developed ovarian failure and amenorrhea, which was confirmed by hormonal evaluation. Nevertheless, she did not receive any hormonal replacement therapy and stopped her sexual life for two years. Fortunately, no recurrence of AML was noted. The patient visited our clinic due to difficulty in performing coitus. Physical examination showed a 2-cm short and blinded vaginal pouch. She initially received hormonal replacement therapy followed by surgical correction via vaginoplasty and two months of dilatory replacement and frequent coitus with satisfactory result. To our limited knowledge, vaginal obliteration as a complication of condition regimen has never been reported before. In the present case report, it is unclear whether spontaneous vaginal obliteration resulted from chemotherapy, total body irradiation, or another unknown cause such as a concomitant leukemic infiltration of the vaginal wall, severe bacterial and fungal infection before treatment, or from any combination of the above. However, due to this case presentation, we suggest that such patients must receive hormonal replacement therapy and be encouraged to have a normal sexual life to avoid this possible problem.

Disseminated carcinomatosis after laparoscopic surgery for presumably benign ruptured ovarian teratoma.

The authors reported the intraperitoneal carcinomatosis after laparoscopic surgery for presumably benign ruptured ovarian teratoma in a 28-year-old woman. A 28-year-old female patient exhibited intraperitoneal carcinomatosis after a laparoscopic surgery for ruptured mature teratoma of the ovary with occult malignant transformation. The complication was found two months after initial laparoscopic surgery. Laparoscopic surgery was smooth including oophorectomy, and removing all spilled specimens within the abdominal cavity. At the end of the laparoscopic surgery, cleaning the abdominal cavity and irritating the port site were also performed. Cytology of the abdominal cavity and all removed specimens did not show evidence of malignancy. She followed up regularly and uneventfully except for persistently abdominal fullness and erythematous change of umbilical portal site. Evidence demonstrated intestinal obstruction associated with ascites after a detailed evaluation. Although the patient received supportive treatment the symptom exacerbated. Therefore, the patient was treated with exploratory laparotomy. Pathology proved with intraperitoneal carcinomatosis caused by squamous cell carcinoma. All tumor evaluations including tumor markers, a thorough physical examination, imaging studies and evaluations of the nuclear medicine were negative except of intraperitoneal carcinoma, origin to be determined. The patient is dead 14 months' post-treatment by exploratory laparotomy. Although it was not clear that the laparoscopic approach or the disease itself worsened indeed the prognosis because the disease was already disseminated before the laparoscopy, we still emphasized the possible limitation of laparoscopic surgery if diagnosis at original surgery is impaired, of if excision is incomplete and the delay between the laparoscopic procedure and the carcinomatosis.

Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We screened 1,000 healthy people, using a previously developed differential PCR method combined with single-strand conformation polymorphism and amplification-created restriction site methods for the carrier detection of the CYP21 gene deficiency. Our results indicated that the rate of occurrence of the heterozygous CAH carrier was about 12 in 1,000, with a gene frequency of 0.0060 and an incidence frequency of 1 in 28,000 in the Chinese population. In addition, 9 cases of CAH families were performed with prenatal diagnosis. Among them, 3 cases were diagnosed as the severe form, 4 cases carried the heterozygous mutation, and 2 were normal. This is the first report of carrier frequency analysis and prenatal diagnosis of 21-hydroxylase deficiency in Chinese.