SUMMARY

Over the last 2014 we have been working on different kinds of studies:

Clinical studies:

1. Updating the anthropometric growth charts (height, weight, BMI, skinfolds, CC) for premature and term newborns and normal children to final adult height (0-22 years) in the Spanish population in collaboration with other pediatric endocrinology groups in Spain.

As a major contribution, for the 1st time we have proposed different growth charts for the 5 sex-specific pubertal growth spurt onset groups and designed and distributed a free-use program for the anthropometric evaluation (AuxoLog®).

2. Creating and implementing an educational program for pediatric obesity therapy (Niñ@s en Movimiento®).

3. Establishing the usefulness of GH secretion stimulatory tests for the classification of children with idiopathic growth retardation by evaluating height gain during GH therapy.

Clinical and molecular studies:

1. Characterizing the molecular basis of chronic harmonic growth retardation in a pediatric population (to date:  GHRH, GHRHR, GH1, GHR). Collaboration with other international pediatric endocrinology groups.

2. Analyzing the association between GHR exon-3 deletion polymorphism and growth response to GH therapy in children born small- (SGA) or adequate-for-gestational age (AGA) treated with low or high GH doses.

3. Characterizing the polymorphic map of genes related to growth hormone (GH) secretion and skeletal growth in a normal-height adult population (to date: GH1, GHRHR and GHR) and analyzing their association with normal height variation.

4. Assessing the association of VDR polymorphisms with: type 1 diabetes susceptibility, low bone mass  susceptibility; 25-OH-vitamin D serum levels and skin-color gene variations in pediatric populations. Collaboration with national and international pediatric endocrinology groups.

5. Defining the molecular basis for early-onset adrenal insufficiency in children through candidate gene sequencing (to date: MC2R, MRAP, StAR, CYP11A1). Collaboration with international pediatric endocrinology groups.

 6. Determining the molecular basis for 46,XY DSD (to date: NR5A1, MAMLD1, LHCGR, StAR, CYP11A1, CYP17A1, HSD17B3, SRD5A2, AR). Collaboration with national and international pediatric endocrinology groups. 

Over 2014 year, 10 articles had been published with a total IP of 33.964 and 6 in the 1st decile. Three doctoral thesis had been presented. The Group organized the XLVII Course of  Pediatric Endocrinology and the Annual Master Course on Pediatric Endocrinology. We are colaborating with the Spanish Orphanet Database managers for the pediatric endocrinology information. We are partners in the COST action BM1301 “A systematic elucidation of differences of sex development (DSDNet)”.

PUBLICATIONS