Philippe F Backeljauw

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States

Are you Philippe F Backeljauw?

Claim your profile

Publications (49)161.87 Total impact

  • Source
    Nicole M Sheanon · Philippe F Backeljauw ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis young women with Turner Syndrome may not reach a normal height. Adjuvant therapy with oxandrolone is used but there is no consensus on the optimal timing of treatment, the duration of treatment and the long term adverse effects of treatment. The objective of this review and meta-analysis is to examine the effect of oxandrolone on adult height in growth hormone treated Turner syndrome patients. Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. The search was limited to English language randomized-controlled trials after 1980. Twenty-six articles were reviewed and four were included in the meta-analysis. A random effects model was used to calculate an effect size and confidence interval. The pooled effect size of 2.0759 (95 % CI 0.0988 to 4.0529) indicates that oxandrolone has a positive effect on adult height in Turner syndrome when combined with growth hormone therapy. In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy.
    International Journal of Pediatric Endocrinology 08/2015; 2015(1):18. DOI:10.1186/s13633-015-0013-3
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Anatomic aortic anomalies are seen in many medical conditions and are known to cause disturbances in blood flow. Turner syndrome (TS) is a genetic disorder occurring only in females where cardiovascular anomalies, particularly of the aorta, are frequently encountered. In this study, numerical simulations are applied to investigate the flow characteristics in four TS patient- related aortic arches (a normal geometry, dilatation, coarctation and elongation of the transverse aorta). The Quemada viscosity model was applied to account for the non-Newtonian behavior of blood. The blood is treated as a mixture consisting of water and red blood cells (RBC) where the RBCs are modeled as a convected scalar. The results show clear geometry effects where the flow structures and RBC distribution are significantly different between the aortas. Transitional flow is observed as a jet is formed due to a constriction in the descending aorta for the coarctation case. RBC dilution is found to vary between the aortas, influencing the WSS. Moreover, the local variations in RBC volume fraction may induce large viscosity variations, stressing the importance of accounting for the non-Newtonian effects.
    Biomechanics and Modeling in Mechanobiology 06/2015; DOI:10.1007/s10237-015-0692-y · 3.15 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural "Turner Resource Network (TRN) Symposium" brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 04/2015; 167(9). DOI:10.1002/ajmg.a.37121 · 2.16 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Growth hormone (GH) and insulin-like growth factor-1 (IGF-1) both contribute to growth. To determine if recombinant human (rh)GH + rhIGF-1 therapy is more effective than rhGH alone to treat short stature, we assessed the efficacy and safety of coadministered rhGH + rhIGF-1 in short children with GH sufficiency and low IGF-1. In a 3-year, randomized, multicenter, open-label trial, patients with height SD score ≤-2.0 and IGF-1 SD score ≤-1.0 for age and sex, and with stimulated GH ≥10 ng/ml for age and sex, were randomized to receive (all doses in µg/kg/day): 45 rhGH alone (group A), 45 rhGH + 50 rhIGF-1 (group B), 45 rhGH + 100 rhIGF-1 (group C) or 45 rhGH + 150 rhIGF-1 (group D). Height velocity (HV) and Δ height SD score were measured. The first-year HV (modified intention-to-treat population) was 9.3 ± 1.7 cm/year (group A), 10.1 ± 1.3 cm/year (group B), 9.7 ± 2.5 cm/year (group C) and 11.2 ± 2.1 cm/year (group D) (p = 0.001 for groups A vs. D). This effect was sustained, resulting in a height SD score improvement during the second and third years. Most treatment-emergent adverse events were mild and transient. In children with short stature, GH sufficiency and low IGF-1, coadministration of rhGH/rhIGF-1 (45/150 µg/kg) significantly accelerated linear growth compared with rhGH alone, with a safety profile similar to the individual monotherapies. © 2015 S. Karger AG, Basel.
    Hormone Research in Paediatrics 03/2015; 83(4). DOI:10.1159/000371799 · 1.57 Impact Factor
  • Roopa Kanakatti Shankar · Thomas H. Inge · Iris Gutmark-Little · Philippe F. Backeljauw ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Background/purpose Gonadectomy is recommended in Turner syndrome (TS) patients with Y-chromosome material due to high risk of tumor in the dysgenetic gonads. No recommendations exist on whether concurrent salpingectomy should be performed. Methods A retrospective chart review of surgical procedure and histopathology in TS patients with Y-chromosome enrolled in a TS database was undertaken at Cincinnati Children’s Hospital Medical Center. An electronic survey was sent to members of the International Pediatric Endosurgery Group to assess prevalent practice patterns and attitudes on gonadectomy and concurrent salpingectomy in this population. Results In March 2011, 12/158 (8%) TS girls (mean age 6.6 years) enrolled in the database had TS with Y-chromosome. Gonadoblastoma was identified in 4/12 (33%) patients and 2/4 had malignant transformation to dysgerminoma and teratoma. Approach to gonadectomy was varied and 3/12 had concurrent salpingectomy. Fifty-four laparoscopic surgeons responded to the survey with no clear consensus on whether salpingectomy should be concurrently performed. Conclusions TS patients with Y-chromosome have an increased risk of gonadal tumor development and gonadectomy is recommended. While there is no consensus among pediatric laparoscopic surgeons on concurrent salpingectomy, it is reasonable to consider this combination procedure.
    Journal of Pediatric Surgery 07/2014; 49(11). DOI:10.1016/j.jpedsurg.2014.06.012 · 1.39 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Context: Turner syndrome (TS) carries an increased risk for vascular disease, or vasculopathy. Objective: Vasculopathy can be detected in young TS patients. Design and Patients: Vasculopathy was prospectively assessed by measuring vascular function and structure in TS patients (n = 49) and lean (L) (n=76) and obese (O) controls (n=52) through noninvasive techniques. Controls were drawn from previously known adolescents who were age-matched and disease-free. Data collected: Pulse wave velocity femoral (PWVf), augmentation index (AIx), carotid intima media thickness (cIMT), and Young's Elastic Modulus (YEM). Results: Mean age and body mass index (BMI) for TS, L, and O subjects were 11.89 years and 21.2 kg/m2, 17.93 years and 20.9 kg/m2, and 18.35 years 36.5 kg/m2, respectively. Blood pressure means (mmHg) in TS, L, and O subjects were 112/65, 103/59, and 113/67, respectively. A greater AIx and YEM were seen in TS patients after adjusting for age plus BMI: AIx = 12.3% ± 2 (TS), -2% ± 1.7 (L), 5.8% ± 2.2 (O); YEM = 544.4 mmHg/mm ± 26.75 (TS), 258.1 mmHg/mm ± 22.7 (L), 343.5 mmHg/mm ± 30.6 (O). After adjustment for age and BMI, a greater PWVf was seen in TS vs. L controls (p <0.0001). The cIMT was lowest in the TS group: 0.35 mm ± 0.06 vs. 0.43 mm± 0.06 (L) and 0.45 mm ± 0.06 (O) (p<0.001). Conclusions: Vasculopathy, a marker of cardiovascular morbidity in adult TS, is detected in childhood. The findings remained after adjusting for age, demonstrating stiffer arterial vessels in young TS patients.
    Journal of Clinical Endocrinology &amp Metabolism 06/2014; 99(10):jc20141140. DOI:10.1210/jc.2014-1140 · 6.21 Impact Factor
  • Jie Chen · Ephraim Gutmark · Goutham Mylavarapu · Philippe F Backeljauw · Iris Gutmark-Little ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Blood flow in human arteries has been investigated using computational fluid dynamics tools. This paper considers flow modeling through three aorta models reconstructed from cross-sectional magnetic resonance scans of female patients. One has the normal control configuration, the second has elongation of the transverse aorta, and the third has tortuosity of the aorta with stenosis. The objective of this study is to determine the impact of aortic abnormal geometries on the wall shear stress (WSS), luminal surface low-density lipoproteins (LDLs) concentration, and oxygen flux along the arterial wall. The results show that the curvature of the aortic arch and the stenosis have significant effects on the blood flow, and in turn, the mass transport. The location of hypoxia areas can be predicted well by ignoring the effect of hemoglobin on the oxygen transport. However, this simplification indeed alters the absolute value of Sherwood number on the wall.
    Journal of Biomechanics 10/2013; 47(2). DOI:10.1016/j.jbiomech.2013.10.031 · 2.75 Impact Factor
  • Source
    Article: Reply.
    Stephanie Sisley · Philippe Backeljauw ·

    The Journal of pediatrics 09/2013; DOI:10.1016/j.jpeds.2013.07.044 · 3.79 Impact Factor
  • Philippe F Backeljauw · Joyce Kuntze · James Frane · Ali S Calikoglu · Steven D Chernausek ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Background: Treatment with recombinant human insulin-like growth factor-I (IGF-I) stimulates linear growth in children with severe IGF-I deficiency (IGFD). Aims: To evaluate the efficacy and safety of treatment with IGF-I in patients with severe IGFD treated until adult or near-adult height. Methods: Twenty-one children with severe IGFD were treated until adult or near-adult height under a predominantly open-label design. All patients were naive to IGF-I. Recombinant human IGF-I was administered subcutaneously in doses between 60 and 120 µg/kg twice daily. Nine patients received additional therapy with gonadotropin- releasing hormone (GnRH) analog for a mean period of 2.9 ± 1.8 years. Results: Mean duration of treatment was 10.0 years. Mean height velocity increased from 3.1 cm/year prior to treatment to 7.4 cm/year during the first year of treatment. Height velocities during the subsequent years were lower, but remained above baseline for up to 12 years. Cumulative mean Δ height SD score at (near) adult height was +2. The observed mean gain in height was 13.4 cm more than had been expected without treatment. The adult height achieved by the patients also treated with GnRH analog was not different from those who received IGF-I therapy alone. There were no new safety signals identified in these patients, a subset of those previously reported. Conclusion: Long-term therapy with IGF-I improves adult height of patients with severe IGFD. Most patients did not bring their heights into the normal adult range.
    Hormone Research in Paediatrics 07/2013; 80(1):47-56. DOI:10.1159/000351958 · 1.57 Impact Factor
  • Source
    Stephanie Sisley · Marcela Vargas Trujillo · Jane Khoury · Philippe Backeljauw ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Objective: To determine the incidence of pathology during routine screening of healthy short children, testing adherence to a consensus statement on the diagnosis and treatment of children with idiopathic short stature, and the cost per identified diagnosis resulting from comprehensive screening. Study design: Retrospective chart review of 1373 consecutive short stature referrals evaluated at the Cincinnati Children's Hospital Medical Center Pediatric Endocrinology Clinic between 2008 and 2011. We identified 235 patients with a height of <3rd percentile, negative history and review of systems, and normal physical examination. Outcome measures were incidence of pathology detection, diagnostic group characteristics, clinicians' adherence to testing guidelines, and screening costs. ANOVA and χ(2) were used to analyze the data. Results: Nearly 99% of patients were diagnosed as possible variants of normal growth: 23% with familial short stature, 41% with constitutional delay of growth and maturation, and 36% with idiopathic short stature. The incidence of newly diagnosed pathology was 1.3%: 1 patient with biopsy-proved celiac disease, 1 with unconfirmed celiac disease, and 1 with potential insulin-like growth factor I receptor defect. On average, each patient had 64.3% of the recommended tests for age and sex; 2.1% of patients had all of the recommended testing. The total screening tests costs were $315321, yielding $105107 per new diagnosis entertained. Conclusions: Healthy short children do not warrant nondirected, comprehensive screening. Future guidelines for evaluating short stature should include patient-specific testing.
    The Journal of pediatrics 05/2013; 163(4). DOI:10.1016/j.jpeds.2013.04.002 · 3.79 Impact Factor
  • Source
    Iris Gutmark-Little · Philippe F Backeljauw ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Girls and women with Turner syndrome (TS) have a highly increased morbidity as the result of cardiovascular disease, both congenital and acquired. Increased clinical use of cardiac magnetic resonance imaging (CMR) in TS patients over recent years has allowed for characterization of disease not always possible with standard imaging modalities, such as echocardiography (echo). In this review, we discuss the current literature regarding CMR in TS patients and guidelines for its use. © 2013 Blackwell Publishing Ltd.
    Clinical Endocrinology 01/2013; 78(5). DOI:10.1111/cen.12157 · 3.46 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Cardiovascular defects characterized by geometrical anomalies of the aorta and its effect on the blood flow is the focus of this study. Not only are the local flow characteristics geometry dependent, but they are also directly connected to the rheological properties of blood. Flow characteristics such as wall shear stress are often postulated to play a central role in the development of vascular disease. In this study, blood is considered to be a non-Newtonian fluid and modeled via the Quemada model, an empirical model that is valid for different red blood cell loading. Three patient-specific geometries of the aortic arch are investigated numerically. The three geometries investigated in this study all display malformations that are prevalent in patients having the genetic disorder Turner syndrome. The results show a highly complex flow with regions of secondary flow that are enhanced in two of the three aortas. Moreover, blood flow is clearly diverted due to the malformations, moving to a larger extent through the branches of the arch instead of through the descending aorta. The geometry having an elongated transverse aorta is found to be subjected to larger areas of highly oscillatory low wall shear stress.
    51st AIAA Aerospace Sciences Meeting including the New Horizons Forum and Aerospace Exposition; 01/2013
  • Iris Gutmark-Little · Kan N Hor · James Cnota · William M Gottliebson · Philippe F Backeljauw ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Cardiovascular disease affects >50% of Turner syndrome (TS) patients. With newer imaging modalities, this prevalence increases and the spectrum of recognized anomalies broadens. To determine the prevalence and hemodynamic significance of partial anomalous pulmonary venous return (PAPVR) in adolescents and young adults with TS using transthoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR), and to study the association with phenotype. The records of 39 young TS patients who had received TTE and CMR were reviewed. PAPVR was diagnosed in seven (18%) patients; six were newly diagnosed by CMR after normal TTE. In one subject, PAPVR was associated with right ventricular enlargement and a pulmonic blood flow (Qp) to systemic blood flow (Qs) ratio of 1.9:1.0, necessitating surgical repair. In other subjects with and without PAPVR, Qp:Qs and the right ventricle to left ventricle end-diastolic volume ratio were statistically different. Other clinical features were not predictive of PAPVR. The prevalence of PAPVR is high in TS, and it may be hemodynamically significant. Diagnosis by TTE can be difficult. Appropriate screening and management are indicated.
    Journal of pediatric endocrinology & metabolism: JPEM 06/2012; 25(5-6):435-40. DOI:10.1515/jpem-2012-0046 · 1.00 Impact Factor
  • Philippe F Backeljauw · Steven D Chernausek ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Specific lesions of the growth hormone (GH)/insulin-like growth factor (IGF) axis have been identified in humans, each of which has distinctive auxologic and biochemical features. Measures of circulating IGF-I are useful in diagnosing growth disorders in childhood and in evaluating response to GH therapy. Recombinant human IGF-I is an effective treatment of severe primary IGF deficiency, which is typical of patients with GH receptor defects (Laron syndrome). Such treatment has been limited to a few severely affected patients. Future studies will provide new insight into IGF-I as treatment and into the nature of growth disorders that involve the IGF axis.
    Endocrinology and metabolism clinics of North America 06/2012; 41(2):265-82, v. DOI:10.1016/j.ecl.2012.04.010 · 3.40 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Growth hormone (GH) is widely prescribed for children with short stature across a range of growth disorders. Recombinant human (rh) insulin-like growth factor-1 (rhIGF-1) therapy is approved for severe primary IGF-I deficiency - a state of severe GH resistance. Evidence is increasing for an unacceptably high rate of poor or unsatisfactory response to growth-promoting therapy (i.e. not leading to significant catch up growth) in terms of change in height standard deviation score (SDS) and height velocity (HV) in many approved indications. Consequently, there is a need to define poor response and to prevent or correct it by optimizing treatment regimens within accepted guidelines. Recognition of a poor response is an indication for action by the treating physician, either to modify the therapy or to review the primary diagnosis leading either to discontinuation or change of therapy. This review discusses the optimal investigation of the child who is a candidate for GH or IGF-1 therapy so that a diagnosis-based choice of therapy and dosage can be made. The relevant parameters in the evaluation of growth response are described together with the definitions of poor response. Prevention of poor response is addressed by discussion of strategy for first-year management with GH and IGF-1. Adherence to therapy is reviewed as is the recommended action following the identification of the poorly responding patient. The awareness, recognition and management of poor response to growth-promoting therapy will lead to better patient care, greater cost-effectiveness and increased opportunities for clinical benefit.
    Clinical Endocrinology 04/2012; 77(2):169-81. DOI:10.1111/j.1365-2265.2012.04420.x · 3.46 Impact Factor
  • Source
    Amy S Shah · Philippe F Backeljauw ·
    [Show abstract] [Hide abstract]
    ABSTRACT: The ability to diagnose non-classic congeni-tal adrenal hyperplasia (NC-CAH) has improved drastically over the past decade due to standardization of laboratory assays and refinement of molecular studies. However, the optimal clinical management for this patient population is still evolving. Thus, we describe the clinical presentation and diagnostic approach of children with non-classic congeni-tal adrenal hyperplasia (NC-CAH). A retrospec-tive chart review was done to identify all sub-jects diagnosed with late-onset CAH or NC-CAH at a single institution during the last decade. Eighteen subjects were identified. Fourteen were diagnosed as NC-CAH 21-hydroxylase deficiency and four with NC-CAH 3-beta hydroxysteroid dehydrogenase (3βHSD) deficiency. The approach to evalua-tion was different according to the provider. Re-evaluation of steroid hormone concentra-tions using updated diagnostic criteria revealed one patient had ACTH-stimulated hormone concentrations consistent with clas-sic CAH (non-salting wasting variant) and four patients initially thought to have NC-CAH 3βHSD had steroid hormone concentrations consistent with premature adrenarche. Age and clinical presentation did not differentiate subjects with NC-CAH from those with prema-ture adrenarche. Skeletal age was ≥ to 2 stan-dard deviations advanced only in those patients with NC-CAH. Variations in the diag-nostic approach to evaluate children for NC-CAH exist. We provide a practical algorithmic recommendation, incorporating the most recent diagnostic guidelines, to aid the clini-cian in the evaluation of this disorder.
    10/2011; 1(2). DOI:10.4081/es.2011.e11
  • [Show abstract] [Hide abstract]
    ABSTRACT: Turner syndrome affects one in 2,500 girls and women and is associated with cardiovascular anomalies. Visualizing the descending thoracic aorta in adults with Turner syndrome with echocardiography is difficult. Therefore, cardiac MRI is the preferred imaging modality for surveillance. Our goals were to use cardiac MRI describe the spectrum and frequency of cardiovascular abnormalities and to evaluate aortic dilatation and associated abnormalities in pediatric patients with Turner syndrome. The cases of 51 patients with Turner syndrome (median age, 18.4 years; range, 6-36 years) were evaluated with cardiac MRI. The characteristics assessed included aortic structure, elongation of the transverse aortic arch, aortic diameter at multiple locations, and coarctation of the aorta (CoA). Additional evaluations were made for presence of bicuspid aortic valve (BAV), and partial anomalous pulmonary venous return (PAPVR). Associations between the cardiac MRI data and the following factors were assessed: age, karyotype, body surface area, blood pressure, and ventricular sizes and function. Sixteen patients (31.4%) had elongation of the transverse aortic arch, eight (15.7%) had CoA, 20 (39.2%) had BAV, and eight (15.7%) had PAPVR. Aortic dilatation was most common at the aortic sinus (30%). Elongation of the transverse aortic arch was associated with CoA (p < 0.01) and BAV (p < 0.05). Patients with elongation of the transverse aortic arch had dilated aortic sinus (p < 0.05). Patients with PAPVR had increased right heart mass (p < 0.05), increased ratio of main pulmonary artery to aortic valve blood flow (p = 0.0014), and increased right ventricular volume (p < 0.05). Cardiovascular anomalies in pediatric patients with Turner syndrome include aortic abnormalities and PAPVR. The significant association between elongation of the transverse aortic arch and CoA, BAV, and aortic sinus dilatation may contribute to increased risk of aortic dissection. The presence of PAPVR can be hemodynamically significant. These findings indicate that periodic cardiac MRI screening of persons with Turner syndrome is beneficial.
    American Journal of Roentgenology 02/2011; 196(2):454-60. DOI:10.2214/AJR.10.4973 · 2.73 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: To identify the incidence of endocrine dysfunction in children following traumatic brain injury (TBI). This was a prospective evaluation of 31 children after TBI. Inclusion criteria included Glasgow Coma Scale score ≤ 12 and age 1.5-18 years. We evaluated thyroid function, insulin-like growth factor I, insulin-like growth factor-binding protein 3, and cortisol at 1, 3, 6, and 12 months after injury, and assessed prolactin at 3 and 6 months. At 6 months, we also assessed overnight spontaneous growth hormone secretion, nocturnal thyrotropin surge, adrenal reserve, and serum and urine osmolarity. The average patient age was 11.6 years, and mean Glascow Coma Scale score was 6. The incidence of endocrine dysfunction was 15% at 1 month, 75% at 6 months, and 29% at 12 months. At 12 months after injury, 14% had precocious puberty, 9% had hypothyroidism, and 5% had growth hormone deficiency. Endocrine dysfunction at 1 year did not correlate with the severity of injury. Endocrine dysfunction after TBI is common in children, but most cases resolve by 1 year. We recommend endocrine surveillance at both 6 and 12 months following moderate or severe TBI to ensure early intervention for persistent or late-occurring endocrine sequelae.
    The Journal of pediatrics 12/2010; 157(6):894-9. DOI:10.1016/j.jpeds.2010.07.004 · 3.79 Impact Factor
  • Philippe Backeljauw · Peter Bang · Peter E Clayton · Mitchell Geffner · Kathryn A Woods ·
    [Show abstract] [Hide abstract]
    ABSTRACT: With the availability of recombinant human (rh) IGF-I as a new therapeutic agent, the criteria for diagnosis and strategies for management of growth deficiencies continue to evolve. This supplement provides a clinical update on molecular, therapeutic, and metabolic aspects of the management of short stature associated with insulin-like growth factor-I deficiency (IGFD). Several distinct, single-gene defects associated with primary IGFD now have been identified. The first section of this supplement focuses on selecting certain patients for specific genetic testing of the GH/IGF-I axis, based on previously obtained clinical and biochemical assessments. Management of short stature in children responding poorly to rhGH and definitions of a good and poor response are discussed in the next section. In addition, the authors further address different methods to help practicing clinicians predict and assess GH response, review the effect of rhGH on final adult height, and discuss the role IGF-I may have in the therapeutic approach to short stature. Finally, the metabolic aspects related to the treatment of short stature are discussed in the third part of this supplement.
    Pediatric endocrinology reviews: PER 02/2010; 7 Suppl 1:154-71.
  • P Backeljauw · P Bang · D B Dunger · A Juul · Y Le Bouc · R Rosenfeld ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Deficiency of insulin-like growth factor-I (IGF-I) results in growth failure. A variety of molecular defects have been found to underlie severe primary IGF-I deficiency (IGFD), in which serum IGF-I concentrations are substantially decreased and fail to respond to GH therapy. Identification of more patients with primary or secondary IGFD is likely with investigative and diagnostic progress, particularly in the assessment of children with idiopathic short stature. Diagnosis of IGFD requires accurate and reliable IGF-I assays, adequate normative data for reference, and knowledge of IGF-I physiology for proper interpretation of data. Recombinant human IGF-I (rhIGF-I) treatment improves stature in patients with severe primary IGFD, and has also been shown to improve glycaemic control and insulin sensitivity in patients with severe insulin resistance. Ongoing studies of patients receiving rhIGF-I will allow further evaluation of the clinical utility of this treatment, with concurrent increase in our understanding of IGF-I and conditions of IGFD.
    Journal of pediatric endocrinology & metabolism: JPEM 01/2010; 23(1-2):3-16. DOI:10.1515/JPEM.2010.23.1-2.3 · 1.00 Impact Factor

Publication Stats

762 Citations
161.87 Total Impact Points


  • 2004-2015
    • Cincinnati Children's Hospital Medical Center
      • • Department of Pediatrics
      • • Division of Endocrinology
      Cincinnati, Ohio, United States
  • 2006-2014
    • University of Cincinnati
      • • College of Medicine
      • • Department of Pediatrics
      Cincinnati, Ohio, United States
  • 2013
    • Baylor College of Medicine
      • Department of Pediatrics
      Houston, Texas, United States
  • 1994-2009
    • University of North Carolina at Chapel Hill
      • Department of Pediatrics
      North Carolina, United States
  • 1999
    • Carolinas Medical Center University
      Charlotte, North Carolina, United States