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Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.
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Primary aldosteronism is an important cause of secondary hypertension with the prevalence of 10%-20%in hypertensive patients. Compared with essential hypertension, primary aldosteronism patients have more cardiovascular and cerebrovascular complications. In this article, we will make a discussion on the development and current situation of primary aldosteronism by means of its prevalence, case detection, case confirmation, subtype classification, treatment and basic research.
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Objective The aim of this study was to compare the efficacy and safety of spironolactone in mono-therapy versus low dose spironolactone in combined-therapy for the treatment of idiopathic hyperaldosteronism (IHA). Methods This was a prospective and randomized study. After 2 weeks wash out period, 48 patients confirmed IHA were assigned to either spironolactone mono-therapy or low dose spironolactone combined-therapy groups. All patients underwent adrenal venous sampling and showed no lateralization. The primary outcome was the percentage of patients with blood pressure<140/90 mmHg(1 mmHg＝0.133 kPa) at 16 weeks. The other observatory parameters were: the occurrence of gynecomastia, renal insufficiency, and hyperkalemia. Results At the end of 16 weeks, the patients′blood pressure were normalized in 17 out of 24 patients(70.8%) in mono-therapy group and in 23 out of 24 patients ( 95. 8%) in combined-therapy group ( P<0. 05). There was no hyperkalemia in both groups. 2 patients and 5 patients in mono-therapy group were observed renal insufficiency and gynecomastia respectively, while no patients in combined-therapy group presented with those side effects. Conclusion Low dose spironolactone combined-therapy group is more effective to control blood pressure and hypokalemia without increase the occurrence of renal insufficiency or gynecomastia.
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The clinical features and laboratory data of two patients with congenital lipoid adrenal hyperplasia (CLAH)were collected. The genomic DNA was extracted from the peripheral blood white cells in the two patients and their family members and the STAR gene was screened for mutations by PCR and Sanger sequencing. Patient 1 was a girl aged 2 years and 8 months,and she visited us because of continual cyanosis for more than two years. Physical examination showed no obvious pigmentation or clitoral hypertrophy,and Tanner stage was B1P1. Clinical examination revealed serum ACTH 1 284.1 pg/ml and 17α-hydoxyprogesterone(17-OHP)0.54 ng/ml, with Karyotype 46, XX. Genetic analysis showed compound heterozygous mutations of c.201_202delCT and c.229C>T in the STAR gene. Her father carried heterozygous c.201_202delCT mutation, and her mother showed heterozygous c.229C>T mutation. Patient 2 was a girl aged 22 years and referred to us because of dark skin for more than 21 years. Physical examination revealed generalized hyperpigmentation,with Tanner stage B5P2. Hormone examination showed ACTH>2 000 pg/ml and serum cortisol 0.77μg/dl. Karyotype analysis revealed 46,XX. Genetic analysis found compound heterozygous mutations of c.64+1G>C and c.707_708delinsCTT in the STAR gene,which descended from her father and mother respectively. Of note,c.64+1G>C is a novel splicing mutation of STAR gene.
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Objective To investigate the clinical characteristics in patients with bilateral macronodular adrenal hyperplasia ( BMAH). Methods We enrolled 357 patients with adrenal tumors including 42 BMAH, 167 cortisol-producing adrenal adenoma (CPA), and 148 non-functional adenomas (NFA). The clinical manifestations, hormonal explorations and complications were compared among groups. Results (1) Age at diagnosis of BMAH group was significantly higher than that of CPA group [(53.7±8.3 vs 41.1±13.1)years], female proportion of BMAH group was lower that that of CPA group(54.8%vs 88.0%, P＜0.01). Both were similar to NFA group. (2) Compared to NFA group, metabolic abnormalities were severer in BMAH and CPA groups. Prevalence of hypertension, diabetes mellitus, and hypokalemia were the highest in BMAH group. ( 3) BMAH patients had lower midnight serum cortisol, 24 hour urine free cortisol, and adrenocorticotrophic hormone levels than CPA patients (P＝0.008, 0.010, and P＝0.001, respectively). The suppression rate of serum cortisol after low-dose dexamethasone suppression test was significantly higher in BMAH group ( P＝ 0. 005). Conclusion BMAH patients were at higher age at diagnosis. Although hypercortisolism in BMAH patients is relatively slight, metabolic abnormalities are more severe. Besides functional diagnosis, physicians should pay more attention to the assessment of complications related to hypercortisolism.
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Clinical data of 116 cases diagnosed as primary empty sella (PES) from 2012 to 2016 in the Department of Endocrine and Metabolic Diseases, Ruijin Hospital were analyzed in this study. Insulin-induced hypoglycemia test and magnetic resonance imaging (MRI) were applied to explore the predictive factors of hypopituitarism in patients with PES. The results showed that 43 (37. 07%) patients with PES were with hypopituitarism. Pituitary height<2. 35 mm and pituitary sagittal area<23. 5 mm2indicated a high risk of hypopituitarism in patients with PES.
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ObjectiveTo retrospectively analyse the data of patients with suspected primary aldosteronism (PA) during the last five years.The receiver operating characteristic (ROC) curve was used to evaluate the value of aldosterone to renin ratio (ARR) in screening primary aldosteronism.MethodsThe clinical data of ARR in supine and upright positions were collected in 590 patients with suspected during January 2006 to August 2010.There were 357 patients diagnosed as primary aldosteronism and 233 patients as essential hypertension among these patients.100 patients with suspected primary aldosteronism took the upright and random ARR during September 2010 to April 2011 ; Among these patients,29 patients were diagnosed as primary aldosteronism and 71 as cases of essential hypertension.ROC curve was made to retrospectively define the method and the cut-off value of the supine,upright or random ARR.ResultsThe area under the curve(AUC) of the supine ARR in the 590 patients who took the supine and upright ARR during January 2006 to August 2010 was 0.838 (0.805-0.867 ) and the AUC of the upright ARR was 0.873 (0.843-0.899 ).There was significant difference between these two AUC readings (P＜0.01 ).The AUC in the upright ARR of the 100 patients who took the upright and random ARR during Septeuder 2010 to April 2011 was 0.962 (0.928 -0.995 ) and the AUC of the random ARR was 0.944 (0.893-0.994 ).There was no significant difference between these two AUC readings (P＞0.05).The upright ARR cutoff value with 400 ( pg · ml-1 )/( ng· ml-1 · h 1 ) yielded a sensitivity of 91.9％ and a specificity of 64.2％ to diagnosis of PA.ConclusionUpright ARR value was more suitable in the screening test than supine ARR value.Random ARR showed similar effect as the upright ARR.In our research,under strict control of the drug,position and detection time,ARR value with 400 ( pg · ml-1 )/( ng· ml-1 · h-1 ) can be the cutoff point in screening the suspcctcd PA patients.
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This paper presents a case of hyperthyroidism with myasthenia gravis (MG),diagnosed by neostigmine-test.Thyrotoxicosis and clinical manifestations of MG were controlled by acetylcholinesterase-inhibitor and immuno-suppressive medicine.Being followed for more than 2 years,the patient had been free of clinical symptoms of MG and his thyroid function was normal.
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Objective To evaluate the values of bilateral inferior petrosal sinus sampling ( BIPSS),high dosage dexamethasone suppression test (HDDST) and pituitary image in the differential diagnosis of ACTH-dependent Cushing's syndrome. Methods Totally 87 patients with confirmed pathological diagnosis were recruited in the study.All received the procedure of BLPSS,HDDST,and pituitary MRI with dynamic enhancement.The diagnostic performances of three differential diagnosis methods in ACTH-dependent Cushing's syndrome were evaluated.Results Seventy-eight patients were diagnosed as cases of pituitary ACTH adenoma,and the remaining 9 were confirmed cases of ectopic ACTH syndrome due to the thymic carcinoid.The sensitivity and specificity of HDDST,pituitary MRI,and BIPSS for the diagnosis of ACTH-dependent Cushing's syndrome were 82.1％ and 100％,79.5％ and 44.4％,92.3％ and 100％,respectively.In Cushing's disease,the diagnostic accuracy was 83.9％ with HDDST,77.0％with pituitary MRI,and93.1％ with BIPSS.In those patients with Cushing's disease,the coincidence of lateralization was 83.9％ with BIPSS and 64.5％ with MRII.Conclusion BIPSS was better than the other two methods in differential diagnosis of ACTH-dependent Cushing's syndrome.Compared with the pituitary MRI,the concordant rate of BIPSS in lateralization of the tumor is higher,and it is more reliable.
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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.