Consensus ; Growth Disorders ; diagnosis ; drug therapy ; Hormone Replacement Therapy ; Human Growth Hormone ; administration & dosage ; deficiency ; therapeutic use ; Humans ; Practice Guidelines as Topic

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.
Cafe-au-Lait Spots ; diagnosis ; genetics ; Child ; Genes, Neurofibromatosis 1 ; Growth Hormone ; deficiency ; Humans ; Male ; Mutation ; Neurofibromatosis 1 ; blood ; diagnosis

BACKGROUND: Vitamin D deficiency remains common in all age groups and affects skeletal and non-skeletal health. Fibroblast growth factor 23 is a bone-derived hormone that regulates phosphate and 1,25-dihydroxyvitamin D homeostasis as a counter regulatory factor. 1,25-Dihydroxyvitamin D stimulates fibroblast growth factor 23 synthesis in bone, while fibroblast growth factor 23 suppresses 1,25-dihydroxyvitamin D production in the kidney. The aim of this study was to evaluate the effects of vitamin D₃ intramuscular injection therapy on serum fibroblast growth factor 23 concentrations, and several other parameters associated with bone metabolism such as sclerostin, dickkopf-1, and parathyroid hormone. METHODS: A total of 34 subjects with vitamin D deficiency (defined by serum 25-hydroxyvitamin D levels below 20 ng/mL) were randomly assigned to either the vitamin D injection group (200,000 units) or placebo treatment group. Serum calcium, phosphate, urine calcium/creatinine, serum 25-hydroxyvitamin D, fibroblast growth factor 23, sclerostin, parathyroid hormone, and dickkopf-1 levels were serially measured after treatment. RESULTS: Comparing the vitamin D injection group with the placebo group, no significant changes were observed in serum fibroblast growth factor 23, parathyroid hormone, or dickkopf-1 levels. Serum sclerostin concentrations transiently increased at week 4 in the vitamin D group. However, these elevated levels declined later and there were no statistically significant differences as compared with baseline levels. CONCLUSION: Serum fibroblast factor 23, sclerostin, parathyroid hormone, and dickkopf-1 levels were not affected significantly by single intramuscular injection of vitamin D₃.
Calcium ; Cholecalciferol ; Fibroblast Growth Factors* ; Fibroblasts* ; Homeostasis ; Humans ; Injections, Intramuscular ; Kidney ; Metabolism ; Parathyroid Hormone ; Vitamin D Deficiency* ; Vitamin D* ; Vitamins*

This study examined the characteristics of biochemical parameters, bone diseases, and vascular calcification in Korean patients with chronic kidney disease (CKD) not yet on dialysis. Serum levels of fibroblast growth factor 23 (FGF23), intact parathyroid hormone (iPTH), 25-hydroxyvitamin D3 (25D), and 1,25-dihydroxyvitamin D3 (1,25D); lumbar spine, total hip, and femur neck bone mineral densities; and brachial-to-ankle pulse wave velocity (baPWV) representing vascular calcification were measured at baseline for 2,238 CKD patients in the KoreaN Cohort Study for Outcomes in Patients With CKD (KNOW-CKD). Increases in serum FGF23 and iPTH preceded changes in serum calcium and phosphate, similar to Western populations. However, the 25D and 1,25D levels decreased earlier than serum FGF23 or iPTH increased, with a decreased estimated glomerular filtration rate (eGFR) in Korean CKD patients. Vitamin D deficiency occurred in 76.7% of patients with CKD stage 1. Bone mineral densities were lowest in CKD stage 5 (lumbar spine, −0.64 ± 1.67; total hip, −0.49 ± 1.21; femur neck, −1.02 ± 1.25). Osteoporosis was more prevalent in patients with higher CKD stages. The mean baPWV, abdominal aortic calcification (AAC), and coronary calcium score also increased, with declined eGFR. In conclusion, a decline in serum vitamin D levels was observed in early CKD stages before significant increases of FGF23 and iPTH in the Korean CKD population compared with that in Western populations. Increased bone disease and vascular calcification occurred in early-stage CKD.
Bone Density ; Bone Diseases ; Calcifediol ; Calcitriol ; Calcium ; Cohort Studies* ; Dialysis ; Femur Neck ; Fibroblast Growth Factors ; Glomerular Filtration Rate ; Hip ; Humans ; Kidney* ; Osteoporosis ; Parathyroid Hormone ; Pulse Wave Analysis ; Renal Insufficiency, Chronic* ; Spine ; Vascular Calcification ; Vitamin D ; Vitamin D Deficiency

Objective To evaluate physicians' attitude and knowledge about the management of adult growth hormone deficiency (AGHD) at Peking Union Medical College Hospital and impact factors associated with better decision-making.Methods A 21-question anonymous survey was distributed and collected at Peking Union Medical College Hospital, a major teaching hospital in Chinese Academy of Medical Sciences. Data of physicians' educational background, clinical training, patient workload per year and continuing medical education in AGHD were collected. Factors associated with appropriate answers were further analyzed by multivariate regression models.Results One hundred and eighteen internal medicine residents, endocrine fellows, attending physicians and visiting physicians responded to the survey. Among them, 44.9% thought that AGHD patients should accept recombinant human growth hormone replacement therapy. Moreover, 56.8% selected insulin tolerance test and growth hormone-releasing hormone-arginine test for the diagnosis of AGHD. Logistic regression analysis of physician demographic data, educational background, and work experience found no consistent independent factors associated with better decision-making, other than continued medical education, that were associated with treatment choice.Conclusions The physicians' reported management of AGHD in this major academic healthcare center in Beijing was inconsistent with current evidence. High quality continued medical education is required to improve Chinese physician management of AGHD.
Adult ; Aged ; Education, Medical, Continuing ; Female ; Health Knowledge, Attitudes, Practice ; Hormone Replacement Therapy ; Human Growth Hormone ; deficiency ; Humans ; Logistic Models ; Male ; Middle Aged

OBJECTIVETo assess the diagnostic value of the propranolol-exercise provocative test for growth hormone deficiency (GHD) in children.

METHODSThis study included 120 children who received both the insulin provocative test and the propranolol-exercise provocative test due to short stature between January 2009 and March 2013. Growth hormone (GH) levels in venous blood were measured before and after the provocative test. Peak GH <10 ng/mL was defined as negative stimulation, while peak GH ≥10 ng/mL was defined as positive stimulation. The children whose peak GH levels were <10 ng/ mL after both tests were diagnosed with GHD.

RESULTSTwenty-nine (24.2%) of the 120 children with short stature were diagnosed with GHD. The positive rate in the insulin provocative test was 48.3%, versus 65.8% in the propranolol-exercise provocative test. The overall coincidence rate and positive coincidence rate of the two tests were 62.5% and 79.3%, respectively. The peak GH after the propranolol-exercise provocative test was significantly higher than that after the insulin provocative test (P<0.01). Peak GH occurred mostly at 30-60 minutes after the insulin provocative test, while that occurred mostly at 120 minutes after the propranolol-exercise provocative test. No adverse effects were observed in the propranolol-exercise provocative test.

CONCLUSIONSCoincidence rates in stimulating the secretion of GH are high between the propranolol-exercise provocative test and the insulin provocative test. Compared with the insulin provocative test, the propranolol-exercise provocative test is more likely to stimulate the secretion of GH. GHD can be clinically diagnosed by the insulin provocative test combined with the propranolol-exercise provocative test.

Adolescent ; Child ; Child, Preschool ; Exercise ; Female ; Human Growth Hormone ; blood ; deficiency ; Humans ; Insulin ; Male ; Propranolol

Abdomen ; Child, Preschool ; Female ; Human Growth Hormone ; deficiency ; Humans ; Lipodystrophy ; etiology

Child, Preschool ; Chromosomes, Human, Pair 18 ; Female ; Human Growth Hormone ; deficiency ; Humans ; Ring Chromosomes

PURPOSE: The administration of recombinant human growth hormone in adults with growth hormone deficiency has been known to improve metabolic impairment and quality of life. Patients, however, have to tolerate daily injections of growth hormone. The efficacy, safety, and compliance of weekly administered sustained-release recombinant human growth hormone (SR-rhGH, Declage(TM)) supplement in patients with growth hormone deficiency were evaluated. MATERIALS AND METHODS: This trial is 12-week prospective, single-arm, open-label trial. Men and women aged > or =20 years with diagnosed growth hormone deficiency (caused by pituitary tumor, trauma and other pituitary diseases) were eligible for this study. Each subject was given 2 mg (6 IU) of SR-rhGH once a week, subcutaneously for 12 weeks. Efficacy and safety at baseline and within 30 days after the 12th injection were assessed and compared. Score of Assessment of Growth Hormone Deficiency in Adults (AGHDA score) for quality of life and serum IGF-1 level. RESULTS: The IGF-1 level of 108.67+/-74.03 ng/mL was increased to 129.01+/-68.37 ng/mL (p=0.0111) and the AGHDA QoL score was decreased from 9.80+/-6.51 to 7.55+/-5.76 (p<0.0001) at week 12 compared with those at baseline. Adverse events included pain, swelling, erythema, and warmth sensation at the administration site, but many adverse events gradually disappeared during the investigation. CONCLUSION: Weekly administered SR-rhGH for 12 weeks effectively increased IGF-1 level and improved the quality of life in patients with GH deficiency without serious adverse events.
Adult ; Aged ; Delayed-Action Preparations ; Female ; Growth Hormone/administration & dosage/*adverse effects/*therapeutic use ; Human Growth Hormone/*deficiency ; Humans ; Male ; Middle Aged ; Prospective Studies ; Recombinant Proteins/administration & dosage/*adverse effects/*therapeutic use

Recombinant human growth hormone is generally safe in treating children with growth hormone deficiency and idiopathic short stature. However, side effects such as sodium and water retention, benign intracranial hypertension, insulin insensitivity, increasing risk of secondary neoplasm, scoliosis, and slipped capital femoral epiphysis may occur occasionally, although the overall incidence remains low.
Dwarfism ; drug therapy ; Dwarfism, Pituitary ; drug therapy ; Human Growth Hormone ; adverse effects ; deficiency ; therapeutic use ; Humans ; Recombinant Proteins ; adverse effects ; therapeutic use