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.

Research progress in hypogonadism of patients with β-thalassemia major / 国际儿科学杂志

Hypogonadism is one of the most common endocrine complications in patients with β-thalassemia major (β-TM).It can be clinically characterized by pubertal developmental delay,primary or secondary amenorrhea infertility that would significantly compromises the quality of life of patients with β-TM.Its pathogenesis is complex and may be related to long-term anemia,iron overload,decreased leptin levels,chronic liver disease,transplant pretreatment drugs and so on.Regular monitoring and active intervention are crucial for promoting adolescent development,sexual function maturation and retention of fertility in β-TM patients.However,there is no relevant guidelines and consensus in our country to guide clinicians on the followup of gonadal function in β-TM patients.This review aims to summarize the research progress in hypogonadism of patients with β-TM in order to improve the level of prevention and treatment.

Humanin and human longevity / 国际儿科学杂志

GH/IGF-1 axis is involved in the whole process of human's growth,and its trait of activity would change in varied ages that might affect human longevity.Humanin is a novel mitochondriai-associated polypeptide which has wide-spectrum neural and cellular protection.Hormone and its derivatives play a positive role on a variety of age-related diseases,such as stroke,myocardial ischemia reperfusion,atherosclerosis,diabetes,etc.Recently,relevant studies show a negative correlation between the plasma level of Hormone and the activity of GH/IGF-1 axis,while a positive correlation between the plasma level of Hormone and human longevity.Additionally,evidences have demonstrated that Hormone and its derivatives can protect the beta cells as well as improve insulin sensitivity,which is greatly expected to become an effective means of prevention and treatment to diabetes in the future.

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.