The clinical and genetic characteristics in a patient with 46,XY complete gonadal dysgenesis was investigated. Clinical features and laboratory data were collected from the patient and the family. The exon of SRY gene was amplified by PCR and sequenced. The patient presented with primary amenorrhea, nonambiguous female external genitalia, slight breast development, and no axillary hair or pubic hair. The female internal reproductive organs consisted of uterus and streaks of ovarian tissue. Howerver, the chromosome karyotype was 46,XY. A missense mutation of A66T in SRY gene was identified, which was not previously reported. The novel SRY mutation caused the sex reversal in this 46,XY female patient.

Objective To investigate the clinical and genetic characteristics in a male patient with 21hydroxylase deficiency combined with adrenal and testicular tumors.Methods Clinical features and laboratory data were collected from the patient.Testicular biopsy was performed.The CYP21 gene was sequenced for mutations.Results The patient presented left adrenal and testicular enlargements.The laboratory examinations showed that plasma ACTH,androstenedione,testosterone,progesterone,and 17-hydroxyprogesterone were markedly elevated.CT scan revealed that the right adrenal gland being resected and the left adrenal with nodular enlargement.Furthermore,testicular biopsy showed a prominent peritubular fibrosis with increased number of peritubular fibroblasts,tubular hyalinisation,and calcification.Sequencing analysis showed a A>G homozygous mutation at intron 2.Conclusion Patients with untreated 21-hydroxylage deficiency may.have adrenal adenomas and(or)testicular adrenal rest tumor simultaneously.

Objective To explore more suitable calculation method of the insulin dosage in insulin hypoglycemia-growth hormone stimulation test(insulin tolerance test, ITT). Methods Fifty-six subjects suspected of growth hormone deficiency were divided into primary and secondary onset groups. All the patients took oral glucose tolerance test and ITT. Homeostasis model of assessment for insulin resistance index ( HOMA-IR) and insulin sensitivity index ( ISI), area under insulin curve ( AUCINS ) and the area under glucose curve ( AUCPG ) were calculated. The insulin dosages during ITT between two groups were compared and the main factors influencing the insulin dosage were analyzed. Results There was no difference in the insulin dosage during ITT between primary and secondary groups. The actual dosage of insulin in this cohort study revealed a significant difference from the initial insulin dosage recommended by the guideline. Multiple linear regression analysis found that AUCINS and body mass index were the independent factors affecting the insulin dosage. Then the optimized coefficient of ITT ( γ) were found. Conclusion The insulin dosage used in our study was inconsistent with the guidelines-recommended ones. In order to make ITT more efficient and safer, a more optimized calculation method to improve the successful rate of insulin-induced hypoglycemia in ITT is proposed.

Objective21 -hydroxylase deficiency ( 21-OHD) patients are at high risk of developing metabolic syndrome.Low dose of glucocorticoid is crucial in the treatment.This study is to investigate the effect of glucocorticoid therapy on potential metabolic disorders.Methods Thirty-two treated and 31 untreated 21-OHD patients were recruited.The components of metabolic syndrome were investigated in both groups.Results Serum testosterone [ (0.61 ±0.12 vs 4.10±0.66) ng/ml,P＜0.01 ],17-(OH) progesterone[ 17-OHP,( 14.83±3.48 vs 48.52±4.72 )ng/ml,P＜0.01 ],dehydroepiandrosterone sulfate[ DHEAS,(55.7±23.6 vs 405.2±65.7 ) μg/dl,P＜0.01 ],and ACTH[ ( 105.8±44.7 vs 617.4± 163.3 ) pg/ml,P＜0.01 ] levels were significantly reduced,whereas body mass index [ ( 23.2±0.9 vs 21.1 ±0.5 ) kg/mz,P＜0.05 ],systolic blood pressure [ ( 120.5 ± 1.3 vs 115.5 ± 1.8 ) mm Hg,P＜0.05,1 mm Hg =0.133 kPa ],serum triglyceride [ ( 1.8±0.2 vs 1.1 ±0.1 ) mmol/L,P＜0.05 ],and homeostasis model assessment for insulin resistance [ HOMA-IR,( 2.07 ± 0.27 vs 1.16 ± 0.12 ),P ＜ 0.01 ] were markedly increased in glucocorticoid treated group.Multivariates regression analysis showed that body mass index was the most important risk factor for HOMA-IR.The correlation of glucocorticoid replacement and HOMA-IR was not observed after adjustment of age and body mass index.ConclusionGlucocorticoid treatment increases body weights,which leads to insulin resistance and metabolic disorders for 21-OHD patients.More attention should be paid to control BMI and metabolic disturbances in 21-OHD patients.

Objective To explore the efficacy of pulse infusion of gonadorelin (LHRH) on the patients with idiopathic hypogonadotropic hypogonadism (IHH) via a micro infusion pump. Methods The protocol was designed as an open, self-controlled prospective study. 31 patients were enrolled and assigned to 3 groups: 23 males without gonadotropin-releasing hormone ( GnRH ) pulse ( group A), 2 males with GnRH pulse frequency insufficiency ( group B), and 6 females ( group C). All the subjects were admitted LHRH every 90 min via the micro infusion pump for 24 weeks. Sex hormones and related characteristics were compared before and after the treatment. Results After 24-weeks treatment, LH peak value reached ( 6. 92 ±5.66 ), ( 9. 55 ±0. 98 ), and ( 6. 93 ±4. 52 ) IU/L; and FSH peak value reached ( 7.44 ± 3. 80 ), ( 12. 85 ± 12. 80 ), and ( 7.38 ±4. 98 ) IU/L among 3 groups, respectively. The testosterone also reached ( 3.18± 1.81 ) and ( 5.78±4. 65 ) ng/ml in groups A and B ( all P＜0. 01 ). In groups A and B, the testis volumes were increased, seminal fluid production was found in 7 patients and spermatogenesis in 6 patients. In group C, uterus was enlarged 85.4%, as well as the ovaries of both sides. Menarche was reported in 5 patients. 19. 4% of the studied patients complained uncomfortable at the injection sites, all the symptoms were mild. Conclusion Pulse infusion of LHRH in IHH patients via a micro infusion pump is effective, while the medication system needs improving.

Objective To improve the diagnosis and treatment of ACTH-independent macronodular adrenal hyperplasia(AIMAH).Methods A 51-year-old female patient with Cushing's syndrome caused by AIMAH was reported.Elevated early morning plasma cortisol levels,increased 24 h urinary free cortisol excretion,and loss of the normal circadian rhythm in cortisol secretion were presented.There was no suppression of cortisol secretion by administration of low-and high-dose overnight dexamethasone suppression test.Cardio-pulmonary function was very bad with the highest blood pressure reaching 300/120 mm Hg( 1 mm Hg=0.133 kPa).Initially,she was treated with mitotane(60 mg/d),but was not effective.After taking ketoconazole (800 mg/d)for 5 days,cardio-pulmonary function was not effectively improved with blood pressure only descending to 180/120 mm Hg.Orthopnoea appeared and Spo2fell once to 75％.The patient had to undergo right total adrenalectomy immediately.ResultsThe mass resected was 10 cm× 10 cm in size and weighted 67.5 g.Histological examination of the removed adrenal revealed nonpigmented macronodular cortical hyperplasia.The patient continued to take ketoconazole (400-800 mg/d)from the 6th day of the operation without steroid replacement therapy in that period.With normal cortisol levels( plasma cortisol at 8:00 was 18.65 μg/dl,24 h urinary free cortisol was 78.75 μmol),she left hospital after the general condition had been improved.During the following updated 10 months follow up,the indexes of her laboratory examination were maintained normal.ConclusionIndividualized therapy should be adopted for the patient with AIMAH.The medication is useful to suppress the adrenal gland cortisol production for those with progression of symptoms,very high blood pressure,hypokalemia and hypoproteinemia.Once the cardio-pulmonary function improves,the target organ should be resected as soon as possible.The supplement of cortisol is not appropriate during the perioperative period.The unilateral adrenalectomy is an effective treatment for AIMAH.

Objective To assay the serum adiponectin levels in normal subjects and patients with insulin resistance syndrome, and to explore the correlation between adiponectin and insulin sensitivity, blood glucose, insulin, lipids etc. Methods Insulin sensitivity index (SI) was assessed by the reduced sample number of Bergman's minimal model method with intravenous glucose tolerance test in subjects of normal controls, obesity, impaired glucose tolerance (ICT) and type 2 diabetes mellitus (DM). Meanwhile the anthropometrical parameters such as body mass index (BMI) and waist hip ratio (WHR) were evaluated and the serum lipids, fasting and postprandial 2 h plasma glucose and insulin levels were also measured. Results Compared with normal control group, the SI in obesity, IGT and type 2 DM groups was significantly decreased (P

To improve the recognition and treatment of the combination of classical congenital adrenal hyperplasia (CAH) and Turner's syndrome. A case of 21-hydroxylase deficiency (21-OHD) in 45,X[3] / 46,XX [47] was reported,and the related literatures were reviewed. A 29-year-old woman with 45,X[3] / 46,XX[47] was referred with clitorimegaly and primary amenorrhea. Her height was 150 cm with a weight of 56 kg. Physical examination revealed a Tanner stage Ⅵ for both breast development and pubic hair development. She showed a little signs of Turner' s syndrome, such as cubitus valgus. Lab findings: sex hormones are significantly increased, including progesterone, testosterone, dehydroepiandrosterone, 17 hydroxyprogesterone, dihydrotestosterone, and androstendione. Enhanced CT scan showed bilateral adrenal hyperplasia. Gynecological ultrasound showed that the size of the uterus and ovary were near normal and the endometrium was not clear. By gene mutation screening, two mutation sites were found in CYP21A2 gene, such as IVS2-13C/ A→G and p. Ile173Asn( c. 518T→A). Taken together, the patient was diagnosed as a combination of 21-OHD and Turner syndrome. A total of ten patients associated with CAH in Turner's syndrome have been reported so far. The findings showed that routine karyotyping during investigations of patients presenting with ambiguous genitalia or with a diagnosis of CAH may reveal the concomitant presence of Turner's syndrome. We should make a definite diagnosis and give early treatment as soon as possible.

Objective To analyze the differential gene expression between thymic carcinoids and normal thymic tissues and to study thepathogenesisofectopicACTH syndrome caused by thymic carcinoids. Methods Using gene chip technique, the gene differential expression of 2 tissues were observed following RNA labeled with different fluorescences (Cy3 and Cy5) hybridized to gene chip. Results Among 4224 genes on gene chip, 394 were up regulated more than 2 folds in thymic carcinoid tissues, 23 of which were associated with cell mitosis; 51 genes were upregulated more than 5 folds, 1 of which (PAK3) was associated with cell mitosis. Conclusion A group of differentially expressed genes were observed between the thymic carcinoids and normal thymic tissues.These overexpressed and cell mitosis-associated genes probably play a role in the pathogenesis of thymic carcinoid tumors.

Objective To analyze clinical characteristics and gene mutation of two patients diagnosed with P450 oxidoreductase deficiency(PORD). Methods Clinical data of 2 patients with PORD was collected from Ruijin hospital. POR gene mutation was analyzed by PCR-Sanger sequencing. A retrospective analysis of literatures concerning PORD was performed. Results Patient 1, female, 16 years old, with 46,XX karyotype, presented with anorectal anomalies, clitoral hypertrophy at birth and irregular menstruation; Patient 2, female, 32 years old, with 46,XX karyotype, showed irregular menstruation and infertility, both without obvious skeletal deformity. Genetic test of POR gene mutation revealed that patient 1 carried a homozygous missense mutation (R457H) and patient 2 carried a heterozygous mutation (R223X/ Y607C). The two mutations (R223X and Y607C) are reported for the first time in China. Conclusion P450 oxidoreductase deficiency which caused by mutations in POR gene has a variety of clinical manifestations, including abnormal steroid hormone synthesis with or without Antley-Bixler syndrome. The affirmative diagnosis should rely on steroid hormone measurement and POR gene analysis.