Analysis of clinical manifestations and gene mutations of 13 child patients with rare causes of primary adrenal insufficiency / 中华内分泌代谢杂志

Objective To analyze the clinical manifestations and gene mutations of rare causes of primary adrenal insufficiency (PAI) in childhood.Methods The clinical features,laboratory tests and gene mutation of 13 patients with PAI in our hospital from September 2010 to August 2017 were analyzed retrospectively.Patients with congenital adrenal hyperplasia,X-linked adrenoleukodystrophy with neurological onset or a clear family history,and autoimmune adrenal insufficiency were excluded.Results The median age of 13 cases (12 males,1 female) was 3 years and 10 months.Medical history or clinical manifestations on the first visit included hyperpigmentation,electrolyte imbalance/salt-wasting crisis,gastrointestinal symptoms,and fatigue,etc.All developments of external genitalia were normal.All cases presented with decreased serum cortisol and increased ACTH levels.Some of the cases showed decreased aldosterone level and plasma renin activity,while 17α-hydroxyprogesterone,testosterone,and androstenedione were in the normal range.Part of cases revealed delayed bone age and adrenal atrophy.Three gene mutations were detected in 13 patients,including NR0B 1 gene (9/13),ABCD 1 gene (3/13),and CYP 11A 1 gene (1/13).NR0B1,and ABCD1 gene mutations were pathogenic mutations,consistent with clinical characteristics.CYP11A1 gene mutation was heterozygote,which cannot fully explain the clinical features.Conclusion PAI in childhood presents common clinical manifestations of adrenal insufficiency,e.g.hyperpigmentation and electrolyte imbalance/sah-wasting crisis,but without specificity.Gene mutational analysis is necessary for precise diagnosis and prognosis estimation.NR0B1 and ABCD1 gene mutations were common in childhood with rare causes of PAI.

Analysis of the influence of iron overload in glucose metabolism in thalassemia major patients / 中华儿科杂志

Objective@#This study aimed at determining the characteristics of the glucose homeostasis and its relationship with iron overload of the patients with β-thalassemia major (β-TM).@*Method@#From Sun Yat-sen Memorial Hospital between January 2014 and December 2015, a total of 57 transfusion-dependent β-TM patients with 5-18 years old were enrolled in this study and fasting blood glucose(FBG) and insulin level, serum ferritin (SF), serum iron, transferrin, total iron binding capacity, unsaturated iron binding capacity were determined.Insulin resistance index (IRI), insulin sensitivity index and β-cell function index (BFI) were also estimated. Besides, in 36 patients cardiac T2* and liver T2* were estimated.@*Result@#(1) Four patients(7%) with β-TM were diagnosed diabetes mellitus, and 14(24%) had impaired fasting glucose. (2) The incidence of abnormal glucose metabolism was significantly different according to levels of SF and degrees of the cardiac iron overload(χ2=9.737, P<0.05; χ2=17.027, P<0.05). It rose while the level of SF increased and the degree of cardiac iron overload aggravated. (3) The incidence of abnormal glucose level was not significantly different in cases with different degree of liver iron overload.The severe group of liver iron overload had significantly higher levels of INS, HOMA-βFI, HOMA-ISI, HOMA-βFI than the non-severe group (Z=-2.434, -2.515, F=8.658, all P<0.05), while no differences were found in the level of FBG, HOMA-βFI between two groups. (4) The result of logistic regression analysis indicated that the cardiac T2* was a significant predictor for the incidence of abnormal glucose metabolism in TM patients (P=0.035, OR=1.182%, 95%CI=1.048 to 1.332).@*Conclusion@#The high prevalence of abnormal glucose metabolism in β-TM patients was mainly closely related with the internal iron overload, especially in organs.The cardiac T2* was an independent risk factor for the incidence of abnormal glucose metabolism in TM patients.

Changes of thyroid autoantibodies and its relationship with dyslipidaemia in children with Turner syndrome / 中华实用儿科临床杂志

Objective To investigate the changes of thyroid autoantibody(TAA)in children with Turner syndrome(TS),and its association between TAA and thyroid dysfunction,age,karyotype and dyslipidaemia.Methods Thirty-two patients with TS diagnosed by chromosome analysis hospitalized at Sun Yat-Sen Memorial Hospital,Sun Yat-Sen University from July 2007 to July 2015 were divided into 2 groups based on TAA-positive or TAA-negative,then the thyroid dysfunction,the age,the karyotype and the lipid metabolism were compared between 2 groups.Results Of the 23 cases of TAA-positive girls(23/32 cases,71.88％),9 girls(39.13％)suffered from thyroid dysfunction;of the 9 cases of TAA-negative girls(9/32 cases,28.12％),3 girls(33.33％)had thyroid dysfunction.As compared with the girls in TAA-negative group,the age in TAA-positive group was significantly higher[(12.08±2.90)years old vs.(8.89±4.17)years old],and the difference was significant(t=101.500,P=0.047).The patients were divided into 4 age groups:0-5 years old,>5-10 years old,>10-15 years old and >15 years old;the rates with TAA-positive were 25.00％(1/4 cases),75.00％(6/8 cases),82.35％(14/17 cases)and 66.67％(2/3 cases)respectively.Twenty patients received the lipid metabolism test,and 11 cases(11/20 cases,55.00％)of them suffered from dyslipidaemia,9 cases of them were TAA-positive(9/11 cases,81.82％),and 2 cases were TAA-negative(2/11 cases,18.18％).The differences in the prevalence of dyslipidaemia between the 2 groups were significant(x2=4.848,P=0.028).There was no significant difference in the numbers of TAA-positive cases among different karyotypes(x2 =4.246,P=0.120).Conclusions Patients with TS are prone to suffer from thyroid dysfunction and dyslipidaemia.Timely detection of TAA and thyroid function is recommended,as well as the lipid metabolism if necessary.

Progress of vitamin D, vitamin D receptor and rickets / 国际儿科学杂志

Vitamin D has a wide range of biological effects mediated through vitamin D receptor(VDR) in body,including regulating calcium-phosphorus metabolism,which has an important influence on normal bone formation and mineralization.Rickets is a common bone metabolic disease in children.Different types of rickets have different causes,but their pathophysiological processes,clinical manifestations and treatments are closely related with the influence of vitamin D and VDR on bone metabolism.