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Gudrun A. Rappold - One of the best experts on this subject based on the ideXlab platform.
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growth hormone is effective in treatment of Short Stature associated with Short Stature homeobox containing gene deficiency two year results of a randomized controlled multicenter trial
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Werner F. Blum, Brenda J Crowe, Judith L. Ross, Charmian A Quigley, Heike Jung, Dachuang Cao, Leeann Braun, Gudrun A. RappoldAbstract:Background: The Short Stature homeobox-containing gene, SHOX, located on the distal ends of the X and Y chromosomes, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Patients with mutations or deletions of SHOX, including those with Turner syndrome (TS) who are haploinsufficient for SHOX, have variable degrees of growth impairment, with or without a spectrum of skeletal anomalies consistent with dyschondrosteosis. Objective: Our objective was to determine the efficacy of GH in treating Short Stature associated with Short Stature homeobox-containing gene deficiency (SHOX-D). Design and Methods: Fifty-two prepubertal subjects (24 male, 28 female; age, 3.0–12.3 yr) with a molecularly proven SHOX gene defect and height below the third percentile for age and gender (or height below the 10th percentile and height velocity below the 25th percentile) were randomized to either a GH-treatment group (n = 27) or an untreated control group (n = 25) for 2 yr. To c...
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Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency
The American Journal of Human Genetics, 2005Co-Authors: Katja U. Schneider, Nitin Sabherwal, Karin Jantz, Ralph Röth, Nadja Muncke, Werner F. Blum, Gordon B. Cutler, Gudrun A. RappoldAbstract:Human growth is influenced not only by environmental and internal factors but also by a large number of different genes. One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal Short Stature (Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic Short Stature. We have analyzed 118 unrelated patients with Leri-Weill dyschondrosteosis and >1,500 patients with idiopathic Short Stature for deletions encompassing SHOX. Deletions were detected in 34% of the patients with Leri-Weill dyschondrosteosis and in 2% of the patients with idiopathic Short Stature. For 27 patients with Leri-Weill dyschondrosteosis and for 6 with idiopathic Short Stature, detailed deletion mapping was performed. Analysis was performed by polymerase chain reaction with the use of pseudoautosomal polymorphic markers and by fluorescence in situ hybridization with the use of cosmid clones. Here, we show that, although the identified deletions vary in size, the vast majority (73%) of patients tested share a distinct proximal deletion breakpoint. We propose that the sequence present within this proximal deletion breakpoint “hotspot” region predisposes to recurrent breaks.
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trisomy of the Short Stature homeobox containing gene shox resulting from a duplication deletion of the x chromosome
Clinical Endocrinology, 2002Co-Authors: K A Adamson, Gudrun A. Rappold, I Cross, J A Batch, I A Glass, S G BallAbstract:The Turner syndrome (TS) is a complex disorder associated with almost invariant Short Stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox-containing gene entitled Short-Stature homeobox-containing gene (SHOX), was isolated from a minimal Short Stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the Short Stature component of TS, and as SHOX haploinsufficiency appears to be the molecular basis of a mesomelic Short Statured skeletal dysplasia (Leri-Weill syndrome), this suggested that SHOX protein expression levels may confer a dosage effect on human Stature. However, in this communication we report a normal Statured female with gonadal dysgenesis, due to the inheritance of a recombinant duplication-deletion X-chromosome. The karyotype of the proband was 46,X,rec(X)dup-(Xp)inv(X)(p11.22q21.2)mat and fluorescent in situ hybridization of her metaphases with a SHOX cosmid confirmed the proband to be trisomic for SHOX. This communication suggests the relationship between levels of SHOX expression and human Stature to be more complex than envisaged previously. The presence of normal Stature in our patient rather than tall Stature is likely to represent the natural variation seen in patients with transcription factor disorders.
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deletions of the homeobox gene shox Short Stature homeobox are an important cause of growth failure in children with Short Stature
The Journal of Clinical Endocrinology and Metabolism, 2002Co-Authors: Gudrun A. Rappold, Maki Fukami, U Heinrich, Beate Niesler, Simone Schiller, Walter Zumkeller, Markus Bettendorf, Elpis Vlachopapadoupoulou, Thomas Reinehr, Kazumichi OnigataAbstract:Short Stature, with an incidence of 3 in 100, is a fairly frequent disorder in children. Idiopathic Short Stature refers to patients who are Short due to various unknown reasons. Mutations of a human homeobox gene, SHOX (Short Stature homeobox), have recently been shown to be associated with the Short Stature phenotype in patients with Turner syndrome and most patients with Leri-Weill dyschondrosteosis. This study addresses the question of the incidence and type of SHOX mutations in patients with Short Stature. We analyzed the SHOX gene for intragenic mutations by single strand conformation polymorphism, followed by sequencing, in 750 patients and for complete gene deletions by fluorescence in situ hybridization in 150 patients (total, 900 patients). This is the largest group of patients with Short Stature studied to date for SHOX mutations. All patients had a normal karyotype, and their height for chronological age were below the third percentile or minus 2 sd of national height standards. All were witho...
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fish deletion mapping defines a 270 kb Short Stature critical interval in the pseudoautosomal region par1 on human sex chromosomes
Human Genetics, 1997Co-Authors: Birgit Weiss, Annelyse Mertz, J Meder, J Garciaheras, Katrin Schiebel, Tsutomu Ogata, Maki Fukami, U Heinrich, Gudrun A. RappoldAbstract:Deletions of the pseudoautosomal region (PAR1) of the sex chromosomes have recently been discovered in individuals with Short Stature, and a minimal common deletion region of 700 kb within PAR1 has subsequently been defined. We have cloned this entire region, which is bounded by the Xp/Yp telomere, as an overlapping cosmid contig. In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with Short Stature. Genotype-phenotype correlations have narrowed down the the critical “Short Stature interval” to a 270-kb region containing the gene with an important role in growth. A minimal tiling path of 6–8 cosmids bridging this interval is now available for interphase and metaphase FISH and provides a valuable tool for diagnostic investigations of patients with idiopathic Short Stature.
Judith L. Ross - One of the best experts on this subject based on the ideXlab platform.
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psychometric performance of the quality of life in Short Stature youth qolissy questionnaire in a randomized open label comparator trial in idiopathic Short Stature
Journal of Pediatric Endocrinology and Metabolism, 2019Co-Authors: Janika Bloemeke, Judith L. Ross, Verónica Mericq, Richelle Valdez, Nelly Mauras, Joseph Permuy, Julia Quitmann, Monika BullingerAbstract:Background In addition to increasing linear growth, improvement in health-related quality of life (HRQOL) is an important endpoint in the treatment of Short Statured youth. Hence, condition-specific psychometric valid instruments that adequately assess HRQOL are needed. We aimed to confirmatorily examine the psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire used in a previously reported prospective randomized open-label trial. Methods This trial compared treatment of idiopathic Short Stature (ISS) in 76 adolescent males with either oral aromatase inhibitors (AIs), subcutaneous daily growth hormone (GH) or a combination treatment (AI/GH) for at least 2 years, demonstrating improvements in HRQOL with the GH and AI/GH interventions. HRQOL was assessed from the child's and parent's perspectives with the Short Stature-specific QoLISSY and the generic KIDSCREEN questionnaires before and 24 months into treatment. Scale scores and psychometric properties were examined regarding reliability and validity of the QoLISSY questionnaire using the dataset from the published trial. Results The QoLISSY questionnaire showed high internal consistency and satisfactory criterion, convergent and known-groups validity. Scale scores were evenly distributed with no major floor or ceiling effects. Responsiveness analyses suggest that the QoLISSY questionnaire detects significant changes in HRQOL after 2 years of treatment with growth-promoting therapies in children with Short Stature from both the child's and parent's perspectives. Conclusions The QoLISSY questionnaire is a psychometrically sound, reliable and valid instrument that can explore the experiences associated with Short Stature, track HRQOL changes over time and in response to treatment, and highlight HRQOL domains that can be improved through intervention.
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growth hormone is effective in treatment of Short Stature associated with Short Stature homeobox containing gene deficiency two year results of a randomized controlled multicenter trial
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Werner F. Blum, Brenda J Crowe, Judith L. Ross, Charmian A Quigley, Heike Jung, Dachuang Cao, Leeann Braun, Gudrun A. RappoldAbstract:Background: The Short Stature homeobox-containing gene, SHOX, located on the distal ends of the X and Y chromosomes, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Patients with mutations or deletions of SHOX, including those with Turner syndrome (TS) who are haploinsufficient for SHOX, have variable degrees of growth impairment, with or without a spectrum of skeletal anomalies consistent with dyschondrosteosis. Objective: Our objective was to determine the efficacy of GH in treating Short Stature associated with Short Stature homeobox-containing gene deficiency (SHOX-D). Design and Methods: Fifty-two prepubertal subjects (24 male, 28 female; age, 3.0–12.3 yr) with a molecularly proven SHOX gene defect and height below the third percentile for age and gender (or height below the 10th percentile and height velocity below the 25th percentile) were randomized to either a GH-treatment group (n = 27) or an untreated control group (n = 25) for 2 yr. To c...
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psychological adaptation in children with idiopathic Short Stature treated with growth hormone or placebo
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Susan R Rose, Ellen W Leschek, John J Chipman, Judith L. Ross, Fernando Cassorla, Jeffrey Baron, Charmian A Quigley, David E Sandberg, Brenda J CroweAbstract:The influence of Short Stature on psychological adaptation in childhood and adolescence is controversial. GH is currently used to treat children with idiopathic Short Stature (ISS, also known as non-GH-deficient Short Stature). This study represents the first double-blind, placebo-controlled trial of the effects of GH on the psychological adaptation of children and adolescents with ISS, treated with GH until adult height was attained. Sixty-eight children (53 males, 15 females), 9–16 yr old, with marked ISS (measured height or predicted adult height −2.5 sd or less) received either GH 0.074 mg/kg or placebo sc three times per week until height velocity decreased to less than 1.5 cm/yr. Parents completed the Child Behavior Checklist (CBCL) and children the Self-Perception Profile (SPP) and Silhouette Apperception Technique at baseline and annually thereafter. Baseline behavioral/emotional adjustment (CBCL) and self-concept (SPP) scores for children with ISS were within the normative range. The two study gr...
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psychological adaptation in children with idiopathic Short Stature treated with growth hormone or placebo
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Susan R Rose, Ellen W Leschek, John J Chipman, Judith L. Ross, Fernando Cassorla, Jeffrey Baron, Charmian A Quigley, David E Sandberg, Brenda J CroweAbstract:The influence of Short Stature on psychological adaptation in childhood and adolescence is controversial. GH is currently used to treat children with idiopathic Short Stature (ISS, also known as non-GH-deficient Short Stature). This study represents the first double-blind, placebo-controlled trial of the effects of GH on the psychological adaptation of children and adolescents with ISS, treated with GH until adult height was attained.Sixty-eight children (53 males, 15 females), 9-16 yr old, with marked ISS (measured height or predicted adult height -2.5 sd or less) received either GH 0.074 mg/kg or placebo sc three times per week until height velocity decreased to less than 1.5 cm/yr. Parents completed the Child Behavior Checklist (CBCL) and children the Self-Perception Profile (SPP) and Silhouette Apperception Technique at baseline and annually thereafter. Baseline behavioral/emotional adjustment (CBCL) and self-concept (SPP) scores for children with ISS were within the normative range. The two study groups exhibited similar behavioral and self-concept profiles (CBCL) during the first 2 yr of the study. However, CBCL behavior problems (internalizing, externalizing, and total problems) appeared to decline, in yr 3 and 4, in the GH-treated group relative to the placebo-treated group. Group differences in CBCL competency domains and the SPP were not observed at any point during the study. Short Stature among children with ISS enrolled in this long-term, placebo-controlled study was not associated with problems in psychological adaptation or self-concept with the psychological instruments employed. GH treatment was associated with a trend toward improvement in problem behaviors, as measured by questionnaires (CBCL) completed by study participants' parents. It remains to be determined whether GH treatment significantly impacts adaptation, psychosocial function, or quality of life in children with ISS.
Brenda J Crowe - One of the best experts on this subject based on the ideXlab platform.
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growth hormone is effective in treatment of Short Stature associated with Short Stature homeobox containing gene deficiency two year results of a randomized controlled multicenter trial
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Werner F. Blum, Brenda J Crowe, Judith L. Ross, Charmian A Quigley, Heike Jung, Dachuang Cao, Leeann Braun, Gudrun A. RappoldAbstract:Background: The Short Stature homeobox-containing gene, SHOX, located on the distal ends of the X and Y chromosomes, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Patients with mutations or deletions of SHOX, including those with Turner syndrome (TS) who are haploinsufficient for SHOX, have variable degrees of growth impairment, with or without a spectrum of skeletal anomalies consistent with dyschondrosteosis. Objective: Our objective was to determine the efficacy of GH in treating Short Stature associated with Short Stature homeobox-containing gene deficiency (SHOX-D). Design and Methods: Fifty-two prepubertal subjects (24 male, 28 female; age, 3.0–12.3 yr) with a molecularly proven SHOX gene defect and height below the third percentile for age and gender (or height below the 10th percentile and height velocity below the 25th percentile) were randomized to either a GH-treatment group (n = 27) or an untreated control group (n = 25) for 2 yr. To c...
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psychological adaptation in children with idiopathic Short Stature treated with growth hormone or placebo
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Susan R Rose, Ellen W Leschek, John J Chipman, Judith L. Ross, Fernando Cassorla, Jeffrey Baron, Charmian A Quigley, David E Sandberg, Brenda J CroweAbstract:The influence of Short Stature on psychological adaptation in childhood and adolescence is controversial. GH is currently used to treat children with idiopathic Short Stature (ISS, also known as non-GH-deficient Short Stature). This study represents the first double-blind, placebo-controlled trial of the effects of GH on the psychological adaptation of children and adolescents with ISS, treated with GH until adult height was attained. Sixty-eight children (53 males, 15 females), 9–16 yr old, with marked ISS (measured height or predicted adult height −2.5 sd or less) received either GH 0.074 mg/kg or placebo sc three times per week until height velocity decreased to less than 1.5 cm/yr. Parents completed the Child Behavior Checklist (CBCL) and children the Self-Perception Profile (SPP) and Silhouette Apperception Technique at baseline and annually thereafter. Baseline behavioral/emotional adjustment (CBCL) and self-concept (SPP) scores for children with ISS were within the normative range. The two study gr...
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psychological adaptation in children with idiopathic Short Stature treated with growth hormone or placebo
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Susan R Rose, Ellen W Leschek, John J Chipman, Judith L. Ross, Fernando Cassorla, Jeffrey Baron, Charmian A Quigley, David E Sandberg, Brenda J CroweAbstract:The influence of Short Stature on psychological adaptation in childhood and adolescence is controversial. GH is currently used to treat children with idiopathic Short Stature (ISS, also known as non-GH-deficient Short Stature). This study represents the first double-blind, placebo-controlled trial of the effects of GH on the psychological adaptation of children and adolescents with ISS, treated with GH until adult height was attained.Sixty-eight children (53 males, 15 females), 9-16 yr old, with marked ISS (measured height or predicted adult height -2.5 sd or less) received either GH 0.074 mg/kg or placebo sc three times per week until height velocity decreased to less than 1.5 cm/yr. Parents completed the Child Behavior Checklist (CBCL) and children the Self-Perception Profile (SPP) and Silhouette Apperception Technique at baseline and annually thereafter. Baseline behavioral/emotional adjustment (CBCL) and self-concept (SPP) scores for children with ISS were within the normative range. The two study groups exhibited similar behavioral and self-concept profiles (CBCL) during the first 2 yr of the study. However, CBCL behavior problems (internalizing, externalizing, and total problems) appeared to decline, in yr 3 and 4, in the GH-treated group relative to the placebo-treated group. Group differences in CBCL competency domains and the SPP were not observed at any point during the study. Short Stature among children with ISS enrolled in this long-term, placebo-controlled study was not associated with problems in psychological adaptation or self-concept with the psychological instruments employed. GH treatment was associated with a trend toward improvement in problem behaviors, as measured by questionnaires (CBCL) completed by study participants' parents. It remains to be determined whether GH treatment significantly impacts adaptation, psychosocial function, or quality of life in children with ISS.
Maki Fukami - One of the best experts on this subject based on the ideXlab platform.
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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic Short Stature
European Journal of Human Genetics, 2018Co-Authors: Antonino Montalbano, Birgit Weiss, Tsutomu Ogata, Maki Fukami, Lonny Juergensen, Christian T Thiel, Nadine H Hauer, Ralph Roeth, Yasuhiro Naiki, David HasselAbstract:Height is a complex quantitative trait with a high heritability. Short Stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. We have recently found that the retinoic acid degrading enzyme CYP26C1 modifies SHOX deficiency phenotypes toward more severe clinical manifestations. Here, we asked whether damaging variants in CYP26C1 alone could lead to Short Stature. We performed exome and Sanger sequencing to analyze 856 individuals with Short Stature where SHOX deficiency was previously excluded. Three different damaging missense variants and one splicing variant were identified in six independent individuals; the functional significance of the identified variants was tested in vitro or in vivo using zebrafish as a model. The genetic and functional data reported here indicate that CYP26C1 represents a novel gene underlying growth disorders and that damaging variants in the absence of SHOX variants can lead to Short Stature.
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deletions of the homeobox gene shox Short Stature homeobox are an important cause of growth failure in children with Short Stature
The Journal of Clinical Endocrinology and Metabolism, 2002Co-Authors: Gudrun A. Rappold, Maki Fukami, U Heinrich, Beate Niesler, Simone Schiller, Walter Zumkeller, Markus Bettendorf, Elpis Vlachopapadoupoulou, Thomas Reinehr, Kazumichi OnigataAbstract:Short Stature, with an incidence of 3 in 100, is a fairly frequent disorder in children. Idiopathic Short Stature refers to patients who are Short due to various unknown reasons. Mutations of a human homeobox gene, SHOX (Short Stature homeobox), have recently been shown to be associated with the Short Stature phenotype in patients with Turner syndrome and most patients with Leri-Weill dyschondrosteosis. This study addresses the question of the incidence and type of SHOX mutations in patients with Short Stature. We analyzed the SHOX gene for intragenic mutations by single strand conformation polymorphism, followed by sequencing, in 750 patients and for complete gene deletions by fluorescence in situ hybridization in 150 patients (total, 900 patients). This is the largest group of patients with Short Stature studied to date for SHOX mutations. All patients had a normal karyotype, and their height for chronological age were below the third percentile or minus 2 sd of national height standards. All were witho...
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fish deletion mapping defines a 270 kb Short Stature critical interval in the pseudoautosomal region par1 on human sex chromosomes
Human Genetics, 1997Co-Authors: Birgit Weiss, Annelyse Mertz, J Meder, J Garciaheras, Katrin Schiebel, Tsutomu Ogata, Maki Fukami, U Heinrich, Gudrun A. RappoldAbstract:Deletions of the pseudoautosomal region (PAR1) of the sex chromosomes have recently been discovered in individuals with Short Stature, and a minimal common deletion region of 700 kb within PAR1 has subsequently been defined. We have cloned this entire region, which is bounded by the Xp/Yp telomere, as an overlapping cosmid contig. In the present study, we have used fluorescence in situ hybridization (FISH) to study four patients with X-chromosomal rearrangements, two with normal height and two with Short Stature. Genotype-phenotype correlations have narrowed down the the critical “Short Stature interval” to a 270-kb region containing the gene with an important role in growth. A minimal tiling path of 6–8 cosmids bridging this interval is now available for interphase and metaphase FISH and provides a valuable tool for diagnostic investigations of patients with idiopathic Short Stature.
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pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic Short Stature and turner syndrome
Nature Genetics, 1997Co-Authors: Birgit Weiss, Annelyse Mertz, Maki Fukami, Beate Niesler, Andreas Rump, Koji Muroya, Gerhard Binder, Stefan Kirsch, Martina WinkelmannAbstract:Growth retardation resulting in Short Stature is a major concern for parents and due to its great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved in linear growth has been implicated within the pseudoautosomal region (PAR1) of the human sex chromosomes. We have determined an interval of 170 kb of DNA within PAR1 which was deleted in 36 individuals with Short Stature and different rearrangements on Xp22 or Yp11.3. This deletion was not detected in any of the relatives with normal Stature or in a further 30 individuals with rearrangements on Xp22 or Yp11.3 with normal height. We have isolated a homeobox-containing gene (SHOX} from this region, which has at least two alternatively spliced forms, encoding proteins with different patterns of expression. We also identified one functionally significant SHOX mutation by screening 91 individuals with idiopathic Short Stature. Our data suggest an involvement of SHOX in idiopathic growth retardation and in the Short Stature phenotype of Turner syndrome patients.
Charmian A Quigley - One of the best experts on this subject based on the ideXlab platform.
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growth hormone is effective in treatment of Short Stature associated with Short Stature homeobox containing gene deficiency two year results of a randomized controlled multicenter trial
The Journal of Clinical Endocrinology and Metabolism, 2007Co-Authors: Werner F. Blum, Brenda J Crowe, Judith L. Ross, Charmian A Quigley, Heike Jung, Dachuang Cao, Leeann Braun, Gudrun A. RappoldAbstract:Background: The Short Stature homeobox-containing gene, SHOX, located on the distal ends of the X and Y chromosomes, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Patients with mutations or deletions of SHOX, including those with Turner syndrome (TS) who are haploinsufficient for SHOX, have variable degrees of growth impairment, with or without a spectrum of skeletal anomalies consistent with dyschondrosteosis. Objective: Our objective was to determine the efficacy of GH in treating Short Stature associated with Short Stature homeobox-containing gene deficiency (SHOX-D). Design and Methods: Fifty-two prepubertal subjects (24 male, 28 female; age, 3.0–12.3 yr) with a molecularly proven SHOX gene defect and height below the third percentile for age and gender (or height below the 10th percentile and height velocity below the 25th percentile) were randomized to either a GH-treatment group (n = 27) or an untreated control group (n = 25) for 2 yr. To c...
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psychological adaptation in children with idiopathic Short Stature treated with growth hormone or placebo
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Susan R Rose, Ellen W Leschek, John J Chipman, Judith L. Ross, Fernando Cassorla, Jeffrey Baron, Charmian A Quigley, David E Sandberg, Brenda J CroweAbstract:The influence of Short Stature on psychological adaptation in childhood and adolescence is controversial. GH is currently used to treat children with idiopathic Short Stature (ISS, also known as non-GH-deficient Short Stature). This study represents the first double-blind, placebo-controlled trial of the effects of GH on the psychological adaptation of children and adolescents with ISS, treated with GH until adult height was attained. Sixty-eight children (53 males, 15 females), 9–16 yr old, with marked ISS (measured height or predicted adult height −2.5 sd or less) received either GH 0.074 mg/kg or placebo sc three times per week until height velocity decreased to less than 1.5 cm/yr. Parents completed the Child Behavior Checklist (CBCL) and children the Self-Perception Profile (SPP) and Silhouette Apperception Technique at baseline and annually thereafter. Baseline behavioral/emotional adjustment (CBCL) and self-concept (SPP) scores for children with ISS were within the normative range. The two study gr...
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psychological adaptation in children with idiopathic Short Stature treated with growth hormone or placebo
The Journal of Clinical Endocrinology and Metabolism, 2004Co-Authors: Susan R Rose, Ellen W Leschek, John J Chipman, Judith L. Ross, Fernando Cassorla, Jeffrey Baron, Charmian A Quigley, David E Sandberg, Brenda J CroweAbstract:The influence of Short Stature on psychological adaptation in childhood and adolescence is controversial. GH is currently used to treat children with idiopathic Short Stature (ISS, also known as non-GH-deficient Short Stature). This study represents the first double-blind, placebo-controlled trial of the effects of GH on the psychological adaptation of children and adolescents with ISS, treated with GH until adult height was attained.Sixty-eight children (53 males, 15 females), 9-16 yr old, with marked ISS (measured height or predicted adult height -2.5 sd or less) received either GH 0.074 mg/kg or placebo sc three times per week until height velocity decreased to less than 1.5 cm/yr. Parents completed the Child Behavior Checklist (CBCL) and children the Self-Perception Profile (SPP) and Silhouette Apperception Technique at baseline and annually thereafter. Baseline behavioral/emotional adjustment (CBCL) and self-concept (SPP) scores for children with ISS were within the normative range. The two study groups exhibited similar behavioral and self-concept profiles (CBCL) during the first 2 yr of the study. However, CBCL behavior problems (internalizing, externalizing, and total problems) appeared to decline, in yr 3 and 4, in the GH-treated group relative to the placebo-treated group. Group differences in CBCL competency domains and the SPP were not observed at any point during the study. Short Stature among children with ISS enrolled in this long-term, placebo-controlled study was not associated with problems in psychological adaptation or self-concept with the psychological instruments employed. GH treatment was associated with a trend toward improvement in problem behaviors, as measured by questionnaires (CBCL) completed by study participants' parents. It remains to be determined whether GH treatment significantly impacts adaptation, psychosocial function, or quality of life in children with ISS.
