Jiang-feng Mao

Peking Union Medical College Hospital, Peping, Beijing, China

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Publications (11)3.04 Total impact

  • [show abstract] [hide abstract]
    ABSTRACT: To explore the clinical manifestations, therapeutic response and RET gene mutation in a patient with multiple endocrine neoplasia 2B (MEN2B) characterized by medullary thyroid carcinoma (MTC), bilateral adrenal pheochromocytoma and multiple mucosal neuromas. The clinical features, laboratory data and radiological manifestations of this patient were collected. Genomic DNA was extracted from her peripheral blood leukocytes and her parents. Tenth to sixteenth exons of RET proto-oncogene, including the flanking regions of introns, were amplified by polymerase chain reaction (PCR). And the mutations of RET proto-oncogene were identified by direct sequencing. MEN-2B was diagnosed by the clinical presentations, laboratory tests and radiological findings. Gene analysis confirmed heterozygous mis-sense mutation at codon 918 in exon 16 of RET proto-oncogene in which thymine was replaced by cytosine (ATG→ACG). Her thyroid medullary carcinoma was treated by radical operations and radiotherapy. Tyrosinase inhibitor sorafenib was administered for 2 months and watery diarrhea and cough were alleviated. The drug was withdrawn because of such intolerant side effects as hair loss and painful rashes. She had a survival time of over 14 years with multiple system tumor metastases. The mutation analysis of RET proto-oncogene confirmed the diagnosis of MEN2B in respect of molecular genetics. For patients with advanced MTC, tyrosinase inhibitors may relieve the symptoms and provide a new therapeutic choice.
    Zhonghua yi xue za zhi 02/2013; 93(6):445-8.
  • Jiang-Feng Mao, Xue-Yan Wu, Shuang-Yu Lu, Min Nie
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    ABSTRACT: To investigate the values of single or repeated luteinizing hormone (LH) releasing hormone analogue (triptorelin) stimulating test in the differential diagnosis between idiopathic hypogonadotropic hypogonadism (IHH) and constitutional delayed puberty (CDP). Male patients (n = 133) without puberty onset after the age of 14 were recruited for triptorelin stimulating test and were followed up for 24 - 48 months until the diagnosis were confirmed: 86 were IHH and the other 47 were CDP. Repeated triptorelin stimulating tests were conducted in 9 IHH patients and 13 CDP patients one year after the first stimulating tests with an attempt to evaluate the dynamic change of hypothalamus-pituitary-testis axis function. The relationship between the final diagnosis and the peak LH value (LH(max)), and the changes of repeated LH(max) were investigated. In the single triptorelin stimulating test, LH(max) was (1.9 +/- 1.2) U/L in IHH group, which was significantly lower than that in CDP group [(13.7 +/- 8.3) U/L] (P < 0.01); 75 IHH patients (87.2%) had a LH(max) lower than 4 U/L, while only 2 CDP patients (4.3%) had a LH(max) lower than 4 U/L. When LH(max) < 4U/L was used as a criteria for the diagnosis of IHH, the single triptorelin stimulating test had a sensitivity of 87.2%, a specificity of 95.7%, and a positive predictive value of 97.4%. The repeated triptorelin stimulating tests performed one year later showed that the LH(max) in the 9 IHH patients increased from (4.7 +/- 2.5) U/L to (5.1 +/- 3.3) U/L (P = 0.78), while that in the 13 CDP patients increased from (10.7 +/- 3.3) U/L to (24.5 +/- 5.7) U/L (P < 0.05). A single triptorelin stimulating test is highly effective in differentiating IHH from CDP. For some patients without definitive diagnosis, a repeated triptorelin stimulating test performed one year later may provide more valuable information on the dynamic change of the hypothalamus-pituitary-testis axis function.
    Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 10/2011; 33(5):566-70.
  • Xue-yan Wu, Min Nie, Shuang-yu Lu, Jiang-feng Mao
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    ABSTRACT: To investigate the clinical values of luteinizing hormone-releasing hormone (LHRH) α (triptorelin) stimulating test in the differential diagnoses of hypothalamus-pituitary-gonad axis (HPGA) disorders. A total of 229 male patients with various HPGA disorders were recruited for triptorelin stimulating test. And all patients were followed up for 12 - 48 months until a definite diagnosis was made. The values of triptorelin stimulating test in the differential diagnoses of HPGA disorders were assessed by examining the close relationship between LHmax and the final clinical diagnosis. (1) LH levels rose steady after an intramuscular injection of triptorelin 100 µg and the time of LHmax appeared at 45 - 60 min. (2) LHmax < 4 U/L indicated the function of HPGA was not activated. LHmax in the range of 4 - 12 U/L indicated the patients might have constitutional delayed puberty development. LHmax > 12 U/L indicated the fulfilled puberty development. Triptorelin stimulating test can precisely evaluate the functions of HPGA in various HPGA disorders and provide valuable information for the differential diagnoses in constitutional delayed puberty development, hypogonadotropic hypogonadism, central and peripheral precocious puberty disorders.
    Zhonghua yi xue za zhi 03/2011; 91(10):679-82.
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    ABSTRACT: To analyse hyperinsulinemia in Bartter syndrome. Twenty-three cases of Bartter syndrome [age (27 ± 9) years; fasting serum potassium (2.8 ± 0.5) mmol/L], 20 patients of aldosterone-producing adenoma [APA, age (45 ± 11)years, fasting serum potassium (3.0 ± 0.4) mmol/L], 20 patients of idiopathic hyperaldosteronism [IHA, age (51 ± 11) years, fasting serum potassium (3.4 ± 0.2) mmol/L] were diagnosed in Peking Union Medical College Hospital from September 2003 to May 2008. All patients underwent 3-hours oral glucose tolerance test (3hOGTT), postural stimulation test and calculated HOMA-insulin resistance (HOMA-IR) and HOMA-insulin sensitivity (HOMA-IS) by Homeostasis model. The insulin area under curve[(229.0 ± 162.4) mIU×L(-1)×h] was significantly higher than APA group [(121.2 ± 81.1) mIU×L(-1)×h, P < 0.05] and were similar to the aged-matched patients with IHA [(227.7 ± 158.6) mIU×L(-1)×h]. But HOMA-IR in Bartter group were similar to APA group (1.96 ± 1.14 vs 1.41 ± 0.91), and HOMA-IR in APA group was lower than IHA group (1.96 ± 1.14 vs 2.40 ± 1.60, P < 0.05). There was no deference in HOMA-IS among three groups, but APA group had lower level. In all three groups, the peak of insulin secretion was delayed. Bartter syndrome patients commonly present with hyperinsulinemia.
    Zhonghua nei ke za zhi [Chinese journal of internal medicine] 02/2011; 50(2):128-31.
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    ABSTRACT: To clarify the possible gene mutations in luteinizing hormone(LH) receptor gene in a boy with LH independent precocious puberty and probe the mechanism the of diseases caused by LH receptor activating mutations. (1) Describe the clinical manifestations and laboratory data in a 5-year-old boy with LH independent precocious puberty. (2) Peripheral leukocytes were collected from the proband, his parents and other 20 normal puberty developed males. PCR and direct DNA sequence of 11 exons in LH receptors gene were conducted. (1) The proband was diagnosed to have LH independent precocious puberty according to the clinical symptoms and the laboratory tests. (2) A germ-line heterozygous point mutation in the 11 exon of LH receptor gene was found in the proband and his mother: c1193 T-->C leading to amino acid change with M398T, which causes consecutively an activation of the LH receptor. (3) Other nucleotide changes in the proband and other normal males include c935 A-->G (N312S) and c1065 -->C (same sense mutation). (1) A germ-line heterozygous point mutation in the LH receptor gene with M398T leads to consecutively activation of the LH receptor and LH independent precocious puberty. (2) The same point mutation does not have any influence on the puberty development, menstruation and productive functions of the proband's mother. (3) The LH receptor gene has possible polymorphism in the Han ethnic population.
    Zhonghua nei ke za zhi [Chinese journal of internal medicine] 12/2010; 49(12):1024-7.
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    ABSTRACT: To investigate the prevalence and characteristics of adrenal lesions in Chinese multiple endocrine neoplasia type 1 (MEN-1) patients. Adrenal CT scan and clinical manifestations were retrospectively reviewed in 32 consecutive MEN-1 patients who were evaluated at our hospital during January 1986 to December 2009. Adrenal lesions were identified in 16 of 32 (50%) MEN-1 patients. Five (31.3%) patents with adrenal involvement showed bilateral lesions, including bilateral adenoma (n=1), bilateral hyperplasia (n=2) and adenoma and hyperplasia on each side (n=2). Unilateral adrenal lesion was presented in 11 (68.7%) patients. Among which, 63.6% had adenomas with a mean diameter of 2.3 cm (0.8-4.0 cm) and the remainder was of hyperplasia or enlargement. In two patients, functioning adrenal abnormalities were detected including Cushing adenoma (n=1) and aldosterone-secreting adenoma (n=1). The prevalence of adrenal lesion in MEN-1 patient is similar between China and western countries. These tumors are mostly benign, small and nonfunctioning. Taking into account a high incidence of adrenal carcinoma in previous foreign studies, routine screening and close surveillance are still recommended for adrenal lesions in MEN-1 patients.
    Zhonghua yi xue za zhi 10/2010; 90(38):2689-92.
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    ABSTRACT: To study the clinical features of 9 patients with X-linked adrenal hypoplasia congenita (AHC) by gene sequencing so as to provide diagnostic rationales. The patients were 9 cases of X-linked AHC treated at our hospital from July 2007 to June 2009. The clinical manifestations were analyzed. The blood biochemistry tests and the hormone examinations including luteinizing hormone-releasing hormone (LHRH) stimulation tests and human chorionic gonadotropin (HCG) stimulation tests were conducted to evaluate the functions of gonads. And CT scans of adrenal glands and gene tests of DAX1/NR0B1 were performed. Nine AHC patients from 8 families were studied. All patients had DAX1/NR0B1 gene mutations. The main clinical features were: (1) some patients (3 families) had a family history of X-linked recessive inheritance; (2) the ages of onset were all below 10 years old (from 2 month after birth to 9 years old) and ages of being treated at our hospital were from 15 to 34 years old; (3) all patients had adrenocortical hypofunctions, but clinical situations were different, most of them had pigmentation (n = 9), nausea and vomiting (n = 8), hypotension (n = 6), Addisonian crisis (n = 4). Others were debility, hypoglycemia and cold susceptibility. Laboratory tests indicated that all patients had hyponatremia at the onset and higher blood adrenocorticotropic hormone level, lower blood 17-hydroxyprogesterone level compared to normal controls; (4) none of the patients had puberty and there was no responses to LHRH stimulation tests, 3 of them had normal responses to HCG stimulation tests; (5) small bilateral adrenal glands were displayed on CT scans. The main clinical features of X-linked AHC are adrenocortical hypofunction and hypogonadotropic hypogonadism. But the phenotypes vary greatly in different patients. So male children with adrenal cortical hypofunction should be suspected of X-linked AHC and DAX1/NR0B1 gene tests should be performed. The sexual development of the patients also should be followed up.
    Zhonghua yi xue za zhi 08/2010; 90(30):2119-22.
  • Jiang-Feng Mao, Min Nie, Shuang-Yu Lu, Xue-Yan Wu
    Asian Journal of Andrology 07/2010; 12(4):611-4. · 2.14 Impact Factor
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    ABSTRACT: Many clinical studies suggest the inverse relationship between testosterone levels and insulin sensitivity in men, however the causative relationship of these two events is still not determined. The purpose of this study was to investigate the effects of testosterone replacement therapy (TRT) on insulin sensitivity, body composition, serum lipid profiles and high sensitivity C-reactive protein (hsCRP) in hypogonadotropic hypogonadal (HH) puberty undeveloped male patients. In this prospectively designed study, we compared homeostasis model assessment of insulin resistance (HOMA-IR), insulin areas under the curves (AUC) of 3-hour oral glucose tolerance test (OGTT) and other metabolic parameters between 26 HH patients and 26 healthy men. The patients' HOMA-IR, insulin AUC, body composition, lipid profiles, hsCRP and other parameters were compared before and after nine-month TRT. The average levels of total testosterone (TT) in HH and healthy group were (0.9 +/- 0.6) nmol/L and (18.8 +/- 3.4) nmol/L, respectively. HOMA-IR in HH group was significantly higher than the healthy group (5.14 +/- 5.16 vs 2.00 +/- 1.38, P < 0.005). Insulin AUC in 3-hour OGTT in HH group was significantly higher than the healthy group (698.6 +/- 414.7 vs 414.2 +/- 267.5, P < 0.01). Fasting glucose level in HH group was significantly higher than control group ((5.1 +/- 0.6) mmol/L vs (4.7 +/- 0.3) mmol/l, P < 0.005). Height, weight and grasp strength of the patients were significantly increased after 9-month TRT. Significant reductions in HOMA-IR (from 5.14 +/- 5.16 to 2.97 +/- 2.16, P < 0.01), insulin AUC (from 698.6 +/- 414.7 to 511.7 +/- 253.9, P < 0.01) and hsCRP (from (1.49 +/- 1.18) mg/L to (0.70 +/- 0.56) mg/L, P < 0.05) were found after TRT. Serum total cholesterol, LDL-C, HDL-C and triglyceride were all decreased, albeit with no significant difference compared to the level prior to TRT. HOMA-IR, insulin AUC and fasting glucose level in HH young male patients were significantly higher than those of the control group, which suggests that low level of testosterone in male adolescents might be a risk factor for insulin resistance. TRT can significantly improve patients' insulin sensitivity and suppress serum hsCRP, which in return suggests that TRT may prevent the HH patients from developing diabetes mellitus and cardiovascular diseases (CVD) in future.
    Chinese medical journal 12/2009; 122(23):2846-50. · 0.90 Impact Factor
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    ABSTRACT: To evaluate the effect of testosterone replacement therapy in patients with hypogonadotrophic hypogonadism (HH) on insulin sensitivity and high sensitivity C reactive protein (hsCRP). 21 males with HH, aged 15 - 30, and 18 age, and BMI-matched healthy males underwent detection of homeostasis model assessment insulin resistance index (HOMA-IR). Second, the values of weight, abdominal circumstance, grips strength, body composition, total testosterone (TT), fast blood glucose and insulin, serum lipid profile, and hsCRP were compared before and after 9-month testosterone replacement therapy in the HH patient group. (1) Before treatment the TT level of the HH patients WAS (0.9 +/- 0.6) nmol/L, significantly lower than that of the healthy control group (18.8 +/- 3.2) nmol/L. The fast insulin level of the HH patients was (16.0 +/- 9.8) mIU/L, significantly higher than that of the control group [(8.4 +/- 3.3) mIU/L, P = 0.018]. The HOMA-IR of the HH patient was 3.7 +/- 2.4, not significantly different from that of the control group (1.8 +/- 0.7, P = 0.021). (2) After testosterone therapy, the fast insulin level of the HH patients decreased from (16.0 +/- 9.8) mIU/L to (12.1 +/- 7.4) mIU/L (P = 0.03); the HOMA-IR decreased from (3.7 +/- 2.4) to (2.7 +/- 1.7) (P = 0.045); and the total cholesterol, LDL-c, HDL-c, and Triglyceride all decreased, but not significantly (all P > 0.05). The hsCRP decreased from (1.49 +/- 1.18) mg/L to (0.70 +/- 0.56) mg/L (P = 0.025). Short period of testosterone replacement therapy in young HH male patients significantly improves the insulin sensitivity and decreases the risk of cardiovascular disease.
    Zhonghua yi xue za zhi 09/2008; 88(36):2550-2.
  • Jiang-feng Mao, Xue-yan Wu, Nai-shi Li, Yi-fan Shi
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    ABSTRACT: To investigate the relationship between hypogonadism and insulin resistance in young male. Twenty-one hypogonadism young males aged 15 to 30 years were included in the clinical trial group, and 11 healthy young males of similar age and BMI in the control. Height, weight, serum FSH, LH, total testosterone (TT), nuclear type and bone age were measured for all the subjects. Serum glucose and insulin levels were taken through 3 h OGTT at 0, 30, 60, 120 and 180 min. And comparisons were made of the levels of fast glucose and insulin, areas under the curve of glucose and insulin and HOMA insulin resistance indexes (HOMA-IR) between the two groups. (1) In the hypogonadism group the average value of TT was (0.9 +/- 0.6) nmol/L and 5 cases of Klinefelter syndrome had pubertal development with Tanner stage above P3, while the other 16 had no. (2) No significant differences were found in BMI, age, areas under the glucose and insulin secretory curve in OGTT between the two groups. (3) Three patients were diagnosed as IGT by OGTT in hypogonadism group, whose serum glucose levels at 120 min were 8.6, 7.9 and 8.2 mmol/L respectively. The maximal insulin excretion time was 30 min after glucose loading. No IGT or DM was found in the control group. (4) Significant difference was found in HOMA-IR and fast insulin level between the two groups. (1) IGT incidence was higher in the hypogonadism group than in the control. (2) HOMA-IR and fast insulin levels were significantly higher in the hypogonadism group than in the control, which suggests that lower serum testosterone may cause insulin resistance in young male patients.
    Zhonghua nan ke xue = National journal of andrology 08/2006; 12(7):612-4.