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D3 short stature

Meriem Ouni, Anne-Laure Castell, Agnès Linglart, Pierre Bougnères
CONTEXT: Like all hormones, GH has variable physiological effects across people. Many of these effects initiated by the binding of GH to its receptor (GHR) in target tissues are mediated by the expression of the IGF1 gene. Genetic as well as epigenetic variation is known to contribute to the individual diversity of GH-dependent phenotypes through two mechanisms. The first one is the genetic polymorphism of the GHR gene due to the common deletion of exon 3. The second, more recently reported, is the epigenetic variation in the methylation of a cluster of CGs dinucleotides located within the proximal part of the P2 promoter of the IGF-1 (IGF1) gene, notably CG-137...
June 2015: Journal of Clinical Endocrinology and Metabolism
G Hellgren, C A Glad, B Jonsson, G Johannsson, K Albertsson-Wikland
OBJECTIVE: The primary aim of the study was to evaluate d3-GHR as a possible cause of increased GH sensitivity in children with delayed infancy-childhood transition (DICT). The secondary aim was to investigate the impact of the GHR exon 3 deleted/full-length (d3/fl) polymorphism on GH treatment response in prepubertal children classified as having idiopathic short stature (ISS). DESIGN: Study subjects included 167 prepubescent longitudinally followed children classified as having ISS...
June 2015: Growth Hormone & IGF Research
Yea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kim
Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less common than in XLH rickets. Herein, we describe a 50-year-old female patient with sporadic hypophosphatemic rickets harboring a novel splicing-site mutation in the PHEX gene (c.663+1G>A) at the exon 5-intron 5 boundary. The patient had recently suffered from right thigh pain and an aggravated waddling gait...
June 2014: Endocrinology and Metabolism
Kumar Surender, I P S Kochar, Ayesha Ahmad, Meenal Kapoor
Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end-organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia. Here, we report a case series on three siblings who had HVDRR with varied clinical findings.
November 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
María Gabriela Ballerini, Horacio Mario Domené, Paula Scaglia, Alicia Martínez, Ana Keselman, Héctor Guillermo Jasper, María Gabriela Ropelato
OBJECTIVE: To investigate the possible association of circulating components of GH-IGFs-IGFBPs system with the GHR-exon 3 genotype in normal and idiopathic short stature (ISS) children. DESIGN: Descriptive, cross-sectional study in normal and ISS children. SUBJECTS AND METHODS: 192 normal and 81 ISS children (age: 5-17 years) were included. Serum IGF-I, IGFBP3, ALS and GHBP levels were measured. GHR-exon 3 polymorphism (GHRd3) was analyzed by multiplex PCR assay...
December 2013: Growth Hormone & IGF Research
Mingliang Zhou, Junrong Ma, Shiju Chen, Xiang Chen, Xijie Yu
MicroRNAs (miRNAs) have been identified to play important functions during osteoblast proliferation, differentiation, and apoptosis. The miR-17~92 cluster is highly conserved in all vertebrates. Loss-of-function of the miR-17-92 cluster results in smaller embryos and immediate postnatal death of all animals. Germline hemizygous deletions of MIR17HG are accounted for microcephaly, short stature, and digital abnormalities in a few cases of Feingold syndrome. These reports indicate that miR-17~92 may play important function in skeletal development and mature...
March 2014: Endocrine
A Soliman, V De Sanctis, A Adel, A El Awwa, S Bedair
OBJECTIVES: to compare clinical, biochemical and radiological manifestations of severe vitamin D deficiency (VDD - serum 25 OH - vitamin D level <10 ng/ml) in adolescents and children and to investigate the effects of an intramuscular injection (IM) of vitamin D3 megadose. DESIGN: in this prospective study 36 adolescents and 45 children with severe VDD were studied. An IM dose (10,000 IU/kg, max 600,000 IU) of cholecalciferol was injected and parameters of calcium homeostasis were measured at intervals of 3 months...
September 2012: Georgian Medical News
Dong-Kyu Jin
Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting) are recognized...
July 2012: Korean Journal of Pediatrics
Saveria Campisi, Antonino Mangiagli, Vincenzo De Sanctis, Michela Giovannini
Extramedullary hematopoiesis (EMH) is a normal compensatory reaction that occurs in almost all chronic hemolytic anemia, especially in transfusion independent thalassemia intermedia, and can involve many organs or tissues, including the epidural space leading to spinal cord compression syndrome. We present a case of EMH in a 29 year old woman with thalassemia major, regularly transfused since the time of diagnosis (age 21 months), who presented with sudden muscle weakness, difficulty walking and maintaining the upright position...
March 2011: Pediatric Endocrinology Reviews: PER
G Vassiliou, I Rousso, G Katzos, N Vavatsi-Christaki, G Tzimagiorgis
BACKGROUND: fl/d3 polymorphism in human GH receptor was correlated with the response to GH therapy in different groups of children with short stature. AIM: This is a 2-yr retrospective study which evaluates the influence of fl/d3 polymorphism to the 1st-and 2nd-year response to GH replacement therapy in Greek children with isolated GH deficiency (GHD). SUBJECTS AND METHODS: A total number of 195 pre-pubertal Greek children were studied (121 controls and 74 patients with GH peak <10 ng/ml)...
September 2011: Journal of Endocrinological Investigation
Wen-Li Lu, Wei Wang, De-Fen Wang, Yuan Xiao, Xiao-Ping Huang, Zhi-Lan Dong
OBJECTIVE: To assess the influence of growth hormone receptor (GHR) Ex3 genotype on the short-term response to recombinant human growth hormone (rhGH) therapy in children with idiopathic short stature (ISS). METHODS: Thirty prepubertal children with ISS receiving rhGH treatment [0.116±0.02 IU/(kg/d)] were randomly recruited. The GHR Ex3 locus was genotyped using a PCR multiplex assay. The growth data including growth velocity, height SDS for chronological age (HtSDSCA), height SDS for bone age (HtSDSBA) and predict final height were compared in children with different GHR genotypes 6 months after rhGH treatment...
September 2010: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
L Drori-Herishanu, M Lodish, S Verma, E Bimpaki, M F Keil, A Horvath, C A Stratakis
Pediatric Cushing disease (CD) often presents with short stature, but we have observed significant inter-individual variability in the growth delay caused by endogenous hypercortisolism. Glucocorticoids cause growth retardation by affecting the growth hormone (GH) - insulin-like growth factor-1 (IGF 1) somatotropic axis, but also other, GH-independent sites. Recently, the GH receptor (GHR) gene was found to have a common polymorphism (P) that leads to a deletion (d3) or retention of exon 3. In this study, we tested the hypothesis that the GH receptor polymorphism (GHR-P) maybe one of the significant variants that determines the degree of growth delay among patients with CD...
March 2010: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Silke Meyer, Stephan Schaefer, Lisette Stolk, Pascal Arp, André G Uitterlinden, Ursula Plöckinger, Günter K Stalla, Ulrich Tuschy, Matthias M Weber, Alexander Weise, Andreas Pfützner, Peter H Kann
AIMS: Contradictory reports exist regarding the influence of the exon 3 deleted (d3)/full-length (fl) growth hormone receptor (GHR) polymorphism on responsiveness to recombinant human growth-hormone therapy in idiopathic short stature, small for gestational age and GH-deficient children, Turner syndrome patients and GH-deficient adults. In some of these studies, the d3 allele was associated with increased responsiveness to GH. The aim of this study was to test this association in a group of GH-deficient adult patients receiving recombinant GH treatment...
October 2009: Pharmacogenomics
M J E Wassenaar, O M Dekkers, A M Pereira, J M Wit, J W Smit, N R Biermasz, J A Romijn
CONTEXT: The exon-3 deleted GH receptor (GHR(d3)) polymorphism is associated with an increased growth response to recombinant human GH (rhGH) therapy in some, but not all, studies in GH-deficient (GHD) and non-GHD children with short stature. OBJECTIVE: The aim of the study was to assess the effects of GHR(d3) on baseline height and the first year's growth response to rhGH treatment in prepubertal GHD and non-GHD children with short stature. DESIGN: We conducted a systematic review and meta-analysis...
October 2009: Journal of Clinical Endocrinology and Metabolism
Ashraf T Soliman, Mohamed El-Dabbagh, Ashraf Adel, Maryam Al Ali, Elsaid M Aziz Bedair, Rania K Elalaily
OBJECTIVES: Was to investigate the effect of treatment with an IM injection, a mega dose of vitamin D3 (10,000 IU/kg) on the clinical, biochemical and radiological parameters of 40 rachitic children with vitamin D deficiency (VDD) over a period of 3 months. DESIGN: In this prospective study we evaluated the clinical, biochemical and radiological responses of an IM injection of cholecalciferol (10,000 IU/kg) for 3 months. RESULTS: At presentation, the most frequent manifestations were enlarged wrist joints, hypotonia, irritability, cranial bossing, wide anterior fontanel, bow legs, delayed teething and walking and Harrison's sulcus with chest rosaries...
February 2010: Journal of Tropical Pediatrics
Keiji Iida, Yutaka Takahashi, Hidesuke Kaji, Yasuhiko Okimura, Osamu Nose, Kazuo Chihara
BACKGROUND: Polymorphisms in the growth hormone receptor (GHR) gene were reported in Caucasian populations. However, the frequency of those in other ethnic backgrounds remains unclear. AIM: We investigated the presence of polymorphisms in the GHR gene in a Japanese population and compared the frequencies with those reported in Caucasian populations. POPULATION: We selected 30 children with idiopathic short stature and 30 adult Japanese of normal height...
January 2009: Journal of Pediatric Endocrinology & Metabolism: JPEM
David S Millar, Mark D Lewis, Martin Horan, Vicky Newsway, D Aled Rees, Tammy E Easter, Guglielmina Pepe, Olga Rickards, Martin Norin, Maurice F Scanlon, Michael Krawczak, David N Cooper
Among Europeans, functionally significant GH1 gene variants occur not only in individuals with idiopathic growth hormone (GH) deficiency and/or short stature but also fairly frequently in the general population. To assess the generality of these findings, 163 individuals from Benin, West Africa were screened for mutations and polymorphisms in their GH1 genes. A total of 37 different sequence variants were identified in the GH1 gene region, 24 of which occurred with a frequency of >1%. Although four of these variants were novel missense substitutions (Ala13Val, Arg19His, Phe25Tyr and Ser95Arg), none of these had any measurable effect on either GH function or secretion in vitro...
December 16, 2008: Molecular and Cellular Endocrinology
Frédéric Jehan, Céline Gaucher, Thi Minh Nguyen, Odile Walrant-Debray, Najiba Lahlou, Christiane Sinding, Michèle Déchaux, Michèle Garabédian
CONTEXT: Treatment of X-linked hypophosphatemic rickets improves bone mineralization and bone deformities, but its effect on skeletal growth is highly variable. OBJECTIVE: Genetic variants in the promoter region of the vitamin D receptor (VDR) gene may explain the response to treatment because this receptor mediates vitamin D action. DESIGN: We studied the VDR promoter haplotype structure in a large cohort of 91 patients with hypophosphatemic rickets including 62 patients receiving 1alpha-hydroxyvitamin D3 derivatives and phosphates from early childhood on...
December 2008: Journal of Clinical Endocrinology and Metabolism
Jung Min Ko, Jung Young Park, Han-Wook Yoo
OBJECTIVE: A human GH receptor (GHR) gene exon 3 polymorphism (d3-GHR) has been reported to be associated with responsiveness to GH therapy. We assessed the frequencies of this polymorphism in Korean control and idiopathic short stature (ISS) populations, and analysed short-term growth response to GH therapy according to GHR-exon 3 genotypes in Korean children with ISS. DESIGN AND PATIENTS: This was a retrospective study in 158 ISS children. Auxological and endocrine parameters were measured, and the GHR-exon 3 genotype was analysed...
January 2009: Clinical Endocrinology
Fabio Buzi, Patrizia Mella, Alba Pilotta, Elena Prandi, Fabiana Lanfranchi, Teresa Carapella
Many variables influence the outcome of growth hormone (GH) therapy (GH dose and duration, height - SDS at treatment start or at puberty onset, bone age, mid parental height, growth velocity, age, etc.). Nevertheless, all these factors only partially explain the interindividual variability in response to GH in GH deficiency (GHD) and in short non-GHD subjects. To this regard, genes coding for factors involved in GH action could play an important role. GH acts through the GH receptor (GHR), and therefore the GHR gene could be the first candidate to influence the response to GH...
2007: Endocrine Development
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