  | Normal growth and development patterns in children. |
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Our Group contributed to the establishment of normal charts for both sexes for height, weight and BMI from birth to adult height in Spain (Spanish Growth Studies 2008 and 2010: cross-sectional and longitudinal studies). The charts are for autochtonous and immigrant populations. The cross-sectional autochnonous charts comprise those for: newborns from 26 to 42 weeks GA and normal children from birth to 22 years. The longitudinal autochtonous study comprises charts according to age at onset of the pubertal growth spurt (very early, early, intermediate, late and very late). The charts for the immigrant population now available comprise those at birth for children of parents from the Magreb, SubSaharan Africa and Central and South America and those to adult height for children from the Magreb and SubSaharan Africa. These charts are necessary for the correct evaluation of children with skeletal growth and nutrition disorders.
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| Growth delay in children: phenotype-genotype (GH1, GHRHR, GHR genes) associations. |
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Children with growth retardation are being molecularly analysed (GH1 and GHRHR depending on the clinical and biochemical phenotypes) and differences between gene sequences in the normal population and patients are being progressively described. Potentially pathogenic mutations detected are being functionally analysed.
In children with growth retardation (idiopathic growth retardation and SGA) and treated with GH, the association between growth response at different periods up to the end of growth and the genotypes for the GHR gene exon 3 deletion have been analysed and are continuously monitored up to final height.
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| Genetic contribution to adult height (GH1 and GHRHR genes). |
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Our Group established the complete map of SNPs in GH1 (proximal promotor and complete coding and non-coding introns) and GHRHR (promoter and exons) genes and the frequency of the GHR gene exon 3-deletion polymorphism in our normal adult height control population of both sexes with height between -2 and +2 SDS. A significant association between several of the detected SNPs and height-SDS has been demonstrated.
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| Human epiphyseal growth cartilage chondrocyte proliferation and gene expression regulation. |
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Postnatal regulation of skeletal growth by growth hormone (GH), insulin-like growth factor I (IGF-I), thyroid hormone, androgens and oestrogen, and the need for their adequate circulating concentrations which vary depending on developmental stages, is well known; however, the physiological role of glucocorticoid (GC) on skeletal growth is poorly understood, except for the deleterious effects of its excess, and vitamin D (VitD) has been well described as a calcium homeostasis regulator and its deficiency as a deleterious effect; however, possible direct effects of VitD on growth plate biology have scarcely been studied. To analyze the mechanisms involved in androgen, thyroid hormone, oestrogen, glucocorticoid (GC), vitamin D (VitD), growth hormone (GH) and insulin-like growth factor I (IGF-I) regulation of epiphyseal growth cartilage biology during human foetal life, we used chondrocytes obtained in primary and first passage cultures as a cellular model.
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| Bone mass in children. |
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Our Group established the charts for bone mineral density (BMD) in normal children from birth to adulthood. These charts are necessary for the correct evaluation of skeletal bone mass in children at risk of developing diminished mineral density before the maximum BMD peak is attained, which predisposes to osteopenia and osteoporosis in adulthood.
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| Predisposing environmental and genetic factors of rickets. |
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Our Group contributed to an initial epidemiological study on rickets prevalence in Primary Care Areas of Catalonia seeing autochtonous and immigrant infants. We further contributed to an international study conducted within the European Society for Paediatric Endocrinology (ESPE) on rickets epidemiological and genetic factors in Middle Eastern countries. We are now contributing to further studies on biochemical and genetic characteristics of autochtonous and immigrant children, in relation to vitamin D and calcium metabolism.
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| Congenital hypothyroidism: Catalan referral center for the diagnosis and therapy. Identification of mutations in thyroid hormone synthesis genes. |
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Our Group forms a reference centre for the diagnosis and treatment of congenital hypothyroidism. The approach is multidisciplinary with the collaboration of paediatrics endocrinologists, psychologists and the research laboratory. The latter, localized in Hospital La Paz (Madrid) contributes to the molecular diagnosis of thyroid hormone synthesis genes.
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| Hypothyroxynaemia in extreme pretern infants. |
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Our Group established the values of thyroid hormones (T4, T3, free-T4, free-T3 and TSH) from birth to 1 year of age in preterm infants 27-37 weeks of gestational age and contributes to the evaluation of hypothyroxinemia of preterm infants.
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| Familial isolated glucocorticoid deficiency (FGD) (MC2R, MRAP, StAR genes). |
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Novel mutations in MC2R and StAR genes are now being described in patients with FGD. Functional analysis of novel mutations will be established in collaboration with the Paediatric Endocrinology and Diabetology Unit of the University Children’s Hospital of Berne.
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| Hyperinsulinism and hypoglycaemia. |
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Our Group forms a reference centre for the diagnosis and treatment of infants and children with the hyperinsulinaemia and hypoglycaemia syndrome. The approach is multidisciplinary with the collaboration of paediatrics endocrinologists, paediatric surgeons and the research laboratory. The latter contributes to the molecular diagnosis of genes involved in this syndrome.
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| Type 1 diabetes: new therapeutic immunomodulators (international clinical trial). |
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D/P3/07/4 “A phase III 3 arm randomized, double-blind, placebo-controlled multicentre study to investigate the impact of Diamyd on the progression of diabetes in patients newly diagnosed with type 1 Diabetes Mellitus”. Promoted by Dyamid Therapeutics.
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| Childhood obesity: metabolic complications and therapeutic approaches |
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Our Group forms a reference centre for the diagnosis and treatment of infants and children with obesity. The approach is multidisciplinary with the collaboration of paediatric endocrinologists, nutritionists and psychologists. We have developed a new therapeutic program “niñ@s en movimiento” and have begun to training medical professional as educators in childhood obesity. More than 250 medical professionals have been trained and our program is applied now in 32 health centres in Spain and one in Mexico.
The metabolic complications of childhood obesity are also evaluated.
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| Disorders of sex development (DSD): clinical and molecular diagnosis (AR, SRD5A2, HSD17B3, CYP17A1, NR5A1, MAMLD1). |
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Our Group forms a reference centre for the diagnosis and treatment of DSD. The approach is multidisciplinary with the collaboration of paediatric endocrinologists, geneticists, pathologists, paediatric surgeons, psychologists and the research laboratory. The latter contributes to the molecular diagnosis of 46,XY DSD patients, with diagnoses being offered to all other hospital centres in Spain. Functional analysis of novel mutations in NR5A1 gene are being performed in collaboration with the Paediatric Endocrinology and Diabetology Unit of the University Children’s Hospital of Berne.
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