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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.
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Objective To investigate the diagnostic value of growth hormone(GH) stimulating test in dwarfism of children and related influencing factors .Methods Arginine and L‐dopa were applied to perform GH stimulating test in 642 children with dwarf‐ism .GH levels were detected at 30 ,60 ,90 ,120 ,150 ,180 min after stimulation .All children were divided into GH deficiency (GHD) group ,with peak value of GH less than 10 ng/mL ,and non‐GHD group ,with peak value of GH at least 10 ng/mL .Physical and la‐boratory data of the two groups were compared .Results The proportion of children with GHD and without GHD were 68 .69%and 31 .31% ,respectively ,and with statistical difference(χ2 =6 .19 ,P<0 .05) .The GH peak value ,with a delay ,mainly appeared at 30 and 150 min after stimulation ,accounting for 22 .42% and 34 .27% .Levels of age ,body height standard deviation ,body mass in‐dex ,alanine aminotransferase ,aspartate aminotransferase ,insulin growth factor‐1 and 25‐hydroxyl vitamin D were statistically dif‐ferent between the two groups(P<0 .05) .Conclusion Arginine and L‐dopa combined stimulating test could be used for the diagno‐sis of GHD in children with dwarfism .GH level might be correlated with various physical and laboratory parameters ,which should be considered for the diagnosis of GHD .
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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.
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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.
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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.
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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