The diagnostic value of the basal luteinizing hormone level for girls with central precocious puberty based on body mass index / 中华实用儿科临床杂志

Objective:To investigate the diagnostic value and cutoff value of the basal luteinizing hormone (LH) level for central precocious puberty (CPP) in girls with different body mass index (BMI) values.Methods:A total of 1 087 girls aged 6 to 8 years old with breast development and visiting the Department of Endocrine Genetics and Metabolism, Fuzhou Children′s Hospital of Fujian Medical University from January 2014 to December 2018 were enrolled.The girls had the breast development of Tanner stage B2 or B3.They were divided into groups of normal weight (840 cases), overweight (133 cases) and obesity (114 cases) according to BMI percentiles corresponding to their age and sex.All individuals underwent gonadotropin-releasing hormone (GnRH) agonist test.Statistical analysis was performed using SPSS 18.0 software, and the receiver operating characteristic (ROC) curve was drawn.Results:In the normal weight group, 393 girls were positive and 447 girls were negative for GnRH test.In the overweight group, 72 girls were positive and 61 girls were negative for GnRH test.In the obesity group, 40 girls were positive and 74 girls were negative for GnRH test.The areas under the ROC curve (AUC) of the basal LH level for the diagnosis of CPP in the normal weight, overweight, and obese girls were 0.826, 0.774, and 0.801, respectively.When the Youden index was maximum, the cutoff values of the basal LH level were 0.245 IU/L, 0.225 IU/L and 0.145 IU/L, respectively; the sensitivities were 63.9%, 65.3%, and 80.0%, respectively; the specificities were 87.9%, 82.0%, and 71.6%, respectively.When the cutoff value of the basal LH level was 0.455 IU/L in the normal weight group, 0.480 IU/L in the overweight group, and 0.335 IU/L in the obesity group, the specificities of the 3 groups were all above 96.6%.Conclusions:It is reliable to use the basal LH level for CPP diagnosis for girls with different BMI values.The cutoff value of the basal LH level for CPP diagnosis in obese girls is the lowest.

Wiedemann-Steiner syndrome caused by novel mutation of KMT2A gene: one case report and literature review / 中华内分泌代谢杂志

Objective To analyze the clinical and biochemical,as well as genetic characteristics of a patient with Wiedemann-Steiner syndrome (WDSTS).Methods The clinical data of a patient with WDSTS were collected.The patient was treated with recombinant human growth hormone (rhGH) combined with gonadotrophine-releasing hormone agonist (GnRHa).Blood samples of the patient and her parents were taken for whole-Exome Sequencing (WES).Relevant literatures about KMT2A mutations were reviewed.Results The 5-year old girl presented with growth retardation,with height 100 cm (-2.4 SD),torpid reaction,and facial anomalies including low hairline,thick eyebrow and hair,hypertelorism,a wide nasal bridge.She had small and puffy hands and feet,excessive hair around back of neck,bilateral forearm and lower limbs.Her GH peak level was 26.6 ng/ml during GH stimulation test.She was re-examined at the age of 10.4 years,with severe short stature (120 cm/-3.58 SD) and a Tanner stage 2 of breast development.Her bone age was found to be approximately 11.4 years.Height increased from 120 cm at the age of 10.4 years to 147.3 cm after rhGH treatment combined with GnRHa for 2.5 years.rhGH therapy alone continued for 1.1 years and a height of 150 cm was reached at the age of 14.9 years,with bone age 14 years.Gene sequencing revealed a de novo frameshift mutation (c.10051 delA,p.Thr3351 Leufs * 17) of exon 27 in KMT2A gene of the patient,but without any mutation in her parents.Through a literature review,seventy-one patients with WDSTS (including present case) presented with intellectual disability (70/71),facial anomalies (70/71),short stature (50/71),and hypertrichosis (39/71).Conclusion Patients presented with short stature,typical facial dysmorphism,intellectual disability,and hypertrichosis should be considered for WDSTS.The mutation p.Thr3351Leufs * 17 in the KMT2A gene detected in our patient is a novel mutation.This is so far the first report of WDSTS patient who was successfully treated with a combination of GH and GnRHa at the onset of puberty to improve her adult height.

WITHDRAWN: Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up.

Ahead of Print article withdrawn by publisher.

ABCC8 gene analysis, treatment and follow-up of an infant with neonatal diabetes mellitus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of an infant with neonatal diabetes mellitus (NDM) and to sequence the ABCC8 gene of this family in order to provide a theoretical basis for the diagnosis and treatment.</p><p><b>METHODS</b>The clinical data of the patient was collected, and the proband and his direct relatives within three generations were sequenced.</p><p><b>RESULTS</b>The patient was 1-month-old, random blood glucose was more than 27.8 mmol/L, C-peptide was 33.8 pmol/L, blood gas analysis was pH 7.16, HCO3.9 mmol/L and urine alkone was 3+. Genetic testing revealed that the patient, his father, elder brother and grandmother have carried heterozygous mutation c.2690A>T(p.D897V) of the ABCC8 gene. Fluid infusion, intravenous administration of insulin and other supportive therapies were provided. After the correction of acidosis, subcutaneous insulin injection were uesd to control the blood glucose. Eight months later, blood glucose was pooly controlled. After combined with glibenclamide, blood glucose was under control.</p><p><b>CONCLUSION</b>The patient carries a heterozygous mutation c.2690A>T(p.D897V) of ABCC8 gene, which is a novel mutation. Glibenclamide was partly effective for the patient.</p>

Progress on neonatal diabetes mellitus / 临床儿科杂志

Most neonatal diabetes mellitus (NDM) is caused by genetic abnormality. Sulfonylurea (SU) has been successfully applied in NDM patients;The pathogenesis of NDM and mechanism of sulfonylurea on molecular level have been illuminated, and recent studies revealed that glycated albumin is a useful glycemic indicator. In this review, the research progress of NDM is summarized.

Rare type of congenital adrenal hyperplasia / 中华实用儿科临床杂志

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease due to glucocorticoid biosynthesis enzyme deficiency,in addition to the common types such as 21-hydroxylase,11 β-hydroxylase deficiency,also include rare types such as 3 β-hydroxysteroid dehydrogenase deficiency,17α-hydroxylase deficiency and congenital lipoid adrenal hyperplasia (CLAH).These rare types of CAH have multiple clinical manifestations,which are easily missed or misdiagnosed.This article focus on molecular genetics,pathophysiology,clinical manifestations and treatment principles of above 3 rare types of CAH.

Mutation analysis of steroid acute regulatory protein gene in a patient affected with congenital lipoid adrenal hyperplasia / 中华内分泌代谢杂志

Objective To analyze the clinical characteristic s of an infant with congenital lipoid adrenal hyperplasia (CLAH),and to sequence the acute regulatory protein (steroid acute regulatory,StAR) gene of the infant patient and her pedigree.Methods Physical examination,laboratory tests,and imaging examination of the 11-month-old patient with CLAH were collected.DNA was extracted from blood samples of the patient and her parents.The 7 exons of StAR gene were amplified by PCR and then sequenced.Results Dark skin,girl vulva,and one each 1.0 cm×1.0 cm palpable lump in inguinal area bilaterally were observed.The adrenocorticotropic hormone (ACTH) was 253 pg/ml,cortisol was 27.6 nmol/L at 8 am,17-hydroxyprogesterone was 3 nmol/L.Uhrasound showed that sign of testicular ultrasonography existed in bilateral inguinal regions.Karyotype analysis showed 46,XY.Sequencing of PCR amplified fragments showed that there were two heterozygous mutations c.229C ＞ T,p (Gln77X) and C.659A＞G,p (His220Arg) of StAR gene in this patient.By rectifying the disturbance of electrolyte,and treating with hydrocortisone and 9α fludrocortisone,etc,the patient has been stable so far.Conclusion The patient presents typical clinical manifestations.Two heterozygous mutations including c.229C ＞T,p (Gln77X) from maternal and C.659A＞G,p (His220Arg) from paternal of StAR gene were detected.Wherein the c.659A＞G,p.(His220Arg) as a novel point mutation of StAR gene,has not been reported so far.

Environmental endocrine disruptors and kisspeptin system / 国际儿科学杂志

Environmental endocrine disruptors have garnered considerable attention in recent years be-cause of their endocrine disruption on sex development disorders. Kisspeptin system might be a novel target for endocrine disruption at the hypothalamic-pituitary-gonad axis. Environmental endocrine disruptors′estrogenic properties make them capable of interacting with the kisspeptin system,and then confer lifelong consequences in-cluding altered pubertal timing, infertility, and metabolic disorders. To date, three compounds have been well studied for their capacity to interfere with kisspeptin signaling pathways:BPA,PCB mixtures,and the phytoestro-gen GEN.

Progress in research of endocrine abnormalities in Turner syndrome / 临床儿科杂志

Turner syndrome (TS) is the result of complete or partial deletion of an X chromosome. It is often associated with endocrine dysfunction such as thyroid dysfunction, growth and developmental disorders, glucose and lipid metabolism disor-ders, and so on. Long-term follow-up of children with TS should regularly monitor thyroid autoantibodies, thyroid function, blood glucose and blood lipids for early detection and intervention of the complications, in order to further improve the life quality of children with TS.

The causes of short stature in Turner syndrome / 临床儿科杂志

Objectives To investigate the causes of short stature in Turner syndrome (TS). Methods 86 patients were di-agnosed with TS by karyotypes from 2004 to 2013. According to the deletion types of the X chromosome short arm, growth hor-mone (GH), insulin-like growth factor-1 (IGF-1) and thyroid function, the TS patients were divided into different groups and com-parison was made among groups. Results Ht SDS in three groups with different extent of the deletion of the X chromosome short arm were (-4.39±1.08), (-3.26±1.25) and (-2.84±0.15) (P0.05). Conclusions The deletion of X chromosome short arm may cause the short stature in TS. The GH-IGF-1 axis in TS is impaired, but GHD is not related to short stature in TS.

Clinical analysis of thyroid abnormalities in 55 children with Turner syndrome / 中华内分泌代谢杂志

Objective Turner syndrome (TS) is characterized with reduced adult height and gonadal dysgenesis and associated with a number of complications including thyroid disease.The purpose of this study was to investigate the prevalence of thyroid diseases and the association between thyroid autoantibodies (TAA) and thyroid dysfunction,age,and karyotype.Methods Fifty-five girls with TS were diagnosed by chromosome analyses and were divided into 2 groups according to whether there was TAA-positive or not:TAA-positive group and TAA-negative group.Thyroid autoantibodies (antithyroglobulin antibody,thyroperoxidase antibody),thyroid function (free T3,free T4,and TSH) were determined with immunochemiluminescent.Ultrasound was applied in TAA-positive group.Results Thyroid functions in 34 TAA-negative girls were normal.Of the 21 TAA-positive girls (21/55,38.2％),7 girls suffered from hypothyroidism and 3 girls had hyperthyroidism.All of 21 TAA-positive girls were diagnosed as cases of Hashimoto's thyroiditis.As compared with the girls in TAA-negative group,the age of girls in TAA-positive group was significantly higher [(12.16 ± 2.55 vs 9.95 ± 4.50) years,P＜0.05].6 cases under 5 years old were TAA-negative.31.3 ％ (5/16) of patients aged 5-10 years old,48.1％ (13/27) aged 10-15 years old and 50.0％ (3/6) above the age of 15 were TAA-positive.There were no significant differences in the numbers of TAApositive cases among different karyotypes (P ＞ 0.05).Thyroid ultrasound in girls with positive-TAA showed the abnormal echogenicity in bilateral lobus lateralis of thyroid.Conclusion Patients with TS are prone to suffer from Hashimoto's thyroiditis leading to thyroid dysfunction,when they are older than 5 years.Thyroid function should be evaluated yearly in girls with TS after 5 years old.There is no specific association between the incidence of autoimmune thyroid disease and certain karyotypes.

Exploration of the training form of cardiopulmonary resuscitation popularization among agricultural residence registration population in towns and villages / 中国实用护理杂志

Objective To explore the short and long-term effect of cardiopulmonary resuscitation (CPR) training for agricultural residence registration population with the language education and practice education,in order to establish a more effective method of first-aid training for agriculture population.Methods 989 agricultural residence registration people were divided into group A (721 people)and group B (268 people) randomly.Group A received CPR training with language education and group B adopted practice education.On the time before and after training immediatelythe 3rd and 6th month after training,we checked the training results and analyzed the data with statistical methods.Results The short- term effect of two methods was satisfying (accuracy more then 90％ ) and without statistical significance.The effect of group B was better than group A in the 3rd and 6th month after training.Two groups showed higher forgetting rate and some accuracy were less than 50％.Conclusions Agriculture population is in urgent need of first-aid.It may be a more effective method of first-aid training for agriculture population to transform gradually from language education to practice education.At the same time,we may use 4 hours as CPR practice education training time and 6 months as re-training period.

Relationship between leptin and idiopathic central precocious puberty in obese girls / 中华内分泌代谢杂志

Objective To explorethe influence of leptin on the onset of puberty, and to study the relationship between leptin and hormones relevant to gonadal axis and its effect on idiopathic central precocious puberty (ICPP) in obese girls. Methods Fifty-six girls with ICPP fulfilled the current diagnostic criteria and came from pediatric endocrinology clinic. The 56 cases were divided into 2 groups according to whether there was obesity or not: 38 non-obese girls with ICPP and 18 obese girls with ICPP. Forty-three age-matched prepubertal girls were divided into non-obese prepuberty group (25 girls) and obese prepuberty group (18 girls). Serum leptin wasassayedwithELISA,andserum FSH, LH and E 2 were determined with immunochemiluminescent. Results As compared with non-obese prepuberty group [(4.1?1.5)?g/L], the leptin concentrations in obese ICPP group [(14.7?7.5)?g/L], non-obese ICPP group [(8.8?5.1)?g/L] and obese prepuberty group [(8.0?5.3)?g/L] were significantly higher (P