Using the liquid chromatography-tandem mass spectrometry (LC-MS/MS) to determine the plasma level of Lyso-GL3 in patients with Fabry disease and to analyze the clinical application of the method.

Objective:Through comprehensive analysis of symptoms and signs, biochemistry, imaging, and dynamic tests, to explore the diagnosis and differential diagnosis of thyrotropin-secreting pituitary adenoma(TSH adenoma) and syndrome of resistance to thyroid hormone(RTH).Methods:A retrospective analysis was conducted on clinical data from 14 patients who visited the First Affiliated Hospital of Zhengzhou University from July 2016 to September 2022, exhibiting elevated levels of free thyroxine(FT4) and free triiodothyronine(FT3) in the presence of increased TSH.Results:There were 7 cases of TSH adenoma and 7 cases of RTH, with the average age of diagnosis at 40.0 years and 26.6 years, respectively. Thirteen patients showed thyrotoxicosis or occasional palpitation, some with pituitary occupancy manifestations or abnormal growth and development; One patient presented with neck thickening. Sex hormone binding globulin was elevated in 3 cases of TSH adenoma. Pituitary magnetic resonance imaging showed that all 7 cases of TSH adenoma were macroadenomas and 1 case of RTH was microadenoma. The octreotide suppression test in 13 patients was inhibited, but there was a significant difference in the inhibition rate of 24 h/2 h TSH inhibition rate of TSH adenoma and RTH, ranging from 46.6% to 83.9% and 4.6% to 28.8% respectively. Six cases of RTH had thyroid hormone receptor β mutation.Conclusion:Syndrome of inappropriate secretion of thyrotropin is a rare condition, mainly including TSH adenoma and RTH. The diagnosis and differentiation of the two conditions require comprehensive assessment incorporating family history, symptoms and signs, laboratory tests, dynamic test, and genetic test. Among these, the 24 h/2 h TSH inhibition rate of octreotide suppression test can effectively distinguish TSH adenoma from RTH.

Objective:To analyze nine cases of pregnancy and lactation-associated osteoporosis(PLO) along with a literature review to improve clinicians′ knowledge of the disease.Methods:We collected medical history, laboratory examination, bone mineral density(BMD) scan, treatment and follow-up data of 9 inpatients with PLO in the Endocrinology Department of the First Affiliated Hospital of Zhengzhou University from January 2014 to June 2021.Results:The median age of onset of 9 patients with PLO was 30 years(22-37 years). All 9 patients presented low back pain, and the median time of low back pain after childbirth was 2.5 months(0.5-7 months). 89% of the patients presented vertebral compression fractures, and the mean number of vertebral fractures was 4.6. Eight patients with PLO showed osteoporosis by dual X-ray absorpiometry(DXA) scan, and one patient showed bone loss by quantitative CT scan. Osteoporosis predominated in the trabecular bone. After the diagnosis, nine patients with PLO stopped breastfeeding and were given calcium and vitamin D preparations. Seven patients were given bisphosphonates and one patient was treated with teriparatide followed by denosumab. The back pain of all patients was relieved, with the median of relief time being 3 months(7 d-6 m). After treatment initiation, BMD was increased in eight patients, especially obvious in the lumbar spine. No new clinical fractures occurred during the follow-up.Conclusions:For women with low back pain and shortened height in late pregnancy or breastfeeding, the possibility of PLO should be considered. Prompt diagnosis and early medical interventions are of utmost importance to reduce the risk of subsequent fractures and improve the prognosis.

The data of 10 patients with pituitary metastases were retrospectively analyzed, including tumor origin, clinical features, imaging characteristics, diagnosis and differential diagnosis, treatment and prognosis. The results showed that the average age of 10 patients at the time of consultation was 62.0 years. Nine metastases were originated from lung cancer and one from breast cancer. All patients started with central diabetes insipidus, and some of them accompanied with hypopituitarism, as well as occupancy manifestations such as headache, blurred vision, etc. MRI showed abnormalities in the pituitary stalk and posterior pituitary, four of which showed characteristic " dumbbell-shaped" changes. Three patients with epidermal growth factor receptor(EGFR)-mutated lung adenocarcinoma revealed improvement in both primary lesion and pituitary metastases after targeted therapy.

Objective:To compare the consistency of artificial analysis and artificial intelligence analysis in the identification of fundus lesions in diabetic patients.Methods:A retrospective study. From May 2018 to May 2019, 1 053 consecutive diabetic patients (2 106 eyes) of the endocrinology department of the First Affiliated Hospital of Zhengzhou University were included in the study. Among them, 888 patients were males and 165 were females. They were 20-70 years old, with an average age of 53 years old. All patients were performed fundus imaging on diabetic Inspection by useing Japanese Kowa non-mydriatic fundus cameras. The artificial intelligence analysis of Shanggong's ophthalmology cloud network screening platform automatically detected diabetic retinopathy (DR) such as exudation, bleeding, and microaneurysms, and automatically classifies the image detection results according to the DR international staging standard. Manual analysis was performed by two attending physicians and reviewed by the chief physician to ensure the accuracy of manual analysis. When differences appeared between the analysis results of the two analysis methods, the manual analysis results shall be used as the standard. Consistency rate were calculated and compared. Consistency rate = (number of eyes with the same diagnosis result/total number of effective eyes collected) × 100%. Kappa consistency test was performed on the results of manual analysis and artificial intelligence analysis, 0.0≤ κ<0.2 was a very poor degree of consistency, 0.2≤ κ<0.4 meant poor consistency, 0.4≤ κ<0.6 meant medium consistency, and 0.6≤ κ<1.0 meant good consistency. Results:Among the 2 106 eyes, 64 eyes were excluded that cannot be identified by artificial intelligence due to serious illness, 2042 eyes were finally included in the analysis. The results of artificial analysis and artificial intelligence analysis were completely consistent with 1835 eyes, accounting for 89.86%. There were differences in analysis of 207 eyes, accounting for 10.14%. The main differences between the two are as follows: (1) Artificial intelligence analysis points Bleeding, oozing, and manual analysis of 96 eyes (96/2042, 4.70%); (2) Artificial intelligence analysis of drusen, and manual analysis of 71 eyes (71/2042, 3.48%); (3) Artificial intelligence analyzes normal or vitreous degeneration, while manual analysis of punctate exudation or hemorrhage or microaneurysms in 40 eyes (40/2042, 1.95%). The diagnostic rates for non-DR were 23.2% and 20.2%, respectively. The diagnostic rates for non-DR were 76.8% and 79.8%, respectively. The accuracy of artificial intelligence interpretation is 87.8%. The results of the Kappa consistency test showed that the diagnostic results of manual analysis and artificial intelligence analysis were moderately consistent ( κ=0.576, P<0.01). Conclusions:Manual analysis and artificial intelligence analysis showed moderate consistency in the diagnosis of fundus lesions in diabetic patients. The accuracy of artificial intelligence interpretation is 87.8%.

Pheochromocytoma/paraganglioma(PPGL) was a kind of neuroendocrine tumor that derived from chromaffin tissue, which seems to be an important etiology of secondary hypertension. With the development of molecular detection technology, at least 17 kinds of pathogenic genes of PPGL has been discovered, which is related to 35%-40% PPGL, and about 40% malignant PPGL is associated with SDHB gene mutation. In this study, we reported a case with a novel splicing mutation of SDHB gene induced paraganglioma.

Objective:To investigate the association of abdominal fat distribution with glycolipid metabolism and diabetic complications in patients with T2DM.Methods:Totally 357 inpatients with T2DM were collected from the Endocrinology Department of our hospital. All patients received quantitative computed tomography to measure the visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT), and were divided into three groups depending on the tertile of VAT value: T1 group (VAT<162.0 cm 2), T2 group (162.0≤VAT<221.1 cm 2), T3 group (VAT≥221.1 cm 2). The incidences of diabetic kidney disease, diabetic retinopathy, diabetic peripheral neuropathy, peripheral atherosclerosis, and cardia-cerebrovascular disease were examined in all patients. Results:HbA 1C level in T1 group was higher than that in T3 group( P<0.05). High density lipoprotein-cholesterol (HDL-C) and estimated glomerular filtration rate (eGFR) in T1 group were higher compared with those in T2 and T3 groups ( P<0.05). Male proportion, age, body mass index (BMI), systolic blood pressure (SBP), diastolic blood pressure (DBP), triglyceride (TG), 24h urinary albumin, diabetic kidney disease and peripheral atherosclerosis in T2 and T3 groups were higher than those in T1 group ( P<0.05). Fasting C- peptide (FCP) and modified homeostasis model assessment for insulin resistance (HOMA-IR) in T3 group were higher than those in T1 and T2 group ( P<0.01). VAT and SAT were positively correlated with BMI, FCP, and HOMA-IR (p<0.01). VAT was positively correlated with age, SBP, DBP, TG, 24h urinary albumin, diabetic kidney disease, peripheral atherosclerosis, and cardia-cerebrovascular disease ( P<0.05), while inversely correlated with HbA 1C, HDL-C, and eGFR ( P<0.05). SAT was positively correlated with total cholesterol and low density lipoprotein-cholesterol ( P<0.01), while negatively correlated with peripheral atherosclerosis ( P<0.01). Multivariate logistic regression analysis showed that VAT was still a risk factor for diabetic kidney disease after adjusted by age, BMI, SBP and fasting plasma glucose( P=0.013). Conclusion:VAT and SAT are associated with blood lipids and insulin resistance, while VAT seems to be a risk factor for diabetic kidney disease.

Objective:To explore the differential diagnosis methods between nonclassical 21-hydroxylase deficiency(NC21-OHD) and polycystic ovary syndrome(PCOS).Methods:The clinical data of 31 women with NC21-OHD were compared with those of 29 women with PCOS.Results:Women with NC21-OHD showed a higher prevalence of adrenal hyperplasia and lower likelihood of polycystic ovary(PCO) than those with PCOS( P<0.05), with lower height( P<0.05). The levels of adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone(17-OHP), androstenedione(AD), total testosterone(TT), and progesterone were higher in women with NC21-OHD compared with those with PCOS( P<0.05). Women with PCOS had higher levels of luteinizing hormone(LH) and higher ratio of LH to follicle stimulating hormone(FSH) than those with NC21-OHD( P<0.05). The best two identification indexes for the two diseases were 17-OHP and progesterone, with the optimal cut-off points 3.34 ng/ml(sensitivity 89.7%, specificity 93.1%) and 0.64 ng/ml(sensitivity 90.0%, specificity 75.9%), respectively. During the 1-day mid-dose dexamethasone suppression test(DST), women with NC21-OHD had higher inhibition rates of 17-OHP, progesterone, AD, and TT( P<0.01) than those with PCOS. Their optimal cut-off values of suppression rates were 73.5%(sensitivity 95.2%, specificity 100.0%), 55.5%(sensitivity 100%, specificity 88.9%), 61.4%(sensitivity 84.2%, specificity 100.0%), 68.3%(sensitivity 65.0%, specificity 100.0%), respectively. Conclusion:The clinical manifestations of women with NC21-OHD are similar to those with PCOS. 17-OHP is the best differential indicator and the 1-day mid-dose DST plays an important role in the identification of the two diseases. Genetic analysis is the gold standard for distinguishing the two diseases.

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by a single cortisol deficiency and normal aldosterone and renin levels, reported by Shepard et al. in 1959 for the first time. The age of FGD onset may be early or later, from neonatal to adult. The clinical manifestations vary due to the different age at onset. The clinical identification was difficult and would be prone to misdiagnosis because the disease may have many similarities with primary adrenal insufficiency (PAI) caused by other reasons.

Objective: To improve the understanding of 17α-hydroxylase/17, 20-lyase deficiency(17OHD)disease. Methods: The clinical data of six patients suffering from 17OHD were analyzed retrospectively. Results: Two patients with complete combined defect had typical clinical presentations, including absence of secondary sexual characteristics, primary amenorrhea, hypertension, hypokalamia, lower gonadal hormone levels, as well as elevated corticotropin and progesterone levels. TAC329AA homozygous mutation, IVS1+ 2T>C, and c. 775_776delAT complex heterozygous mutation were found in 2 cases. Four cases of partial combined defect showed high progesterone, lower gonadal hormones and dehydroepiandrosterone-sulfate levels. Three females(46, XX)showed spontaneous menstrual and primary infertility, and two of them got successful pregnancy with assisted reproductive technology. TAC329AA heterozygous mutation was found in those 4 cases. Conclusions TAC329AA mutation is common in 17OHD, and heterozygous or homozygous mutation of TAC329AA may be the genetic and molecular basis for determining whether these patients present as partial or complete defect. The elevated plasma progesterone in non-pregnancy combined with lower gonadal hormones and dehydroepiandrosterone-sulfate is the main character of patients with partial 17OHD. Less severe patients may be able to get successful pregnancy with assisted reproductive technology.