J. A. Bermúdez de la Vega

Publications10
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Citations138
Highly Influential Citations4
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Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
BACKGROUND Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women… Expand
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Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations… Expand
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Complete Androgen Insensitivity Syndrome Associated with Male Gender Identity or Female Precocious Puberty in the Same Family
In 4 complete androgen insensitivity syndrome (CAIS) members of one family, 2 presented extreme and unusual clinical features: male gender identity disorder (case 1) and female precocious central… Expand
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Anthropometric, Bone Age, and Bone Mineral Density Changes after a Family-Based Treatment for Obese Children
Our objective was to identify anthropometric, bone age, and bone mineral density (BMD) changes after a family-based treatment program for obese children. We conducted a longitudinal prospective study… Expand
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[Hyperglycerolemia, a pseudo-hypertriglyceridemia: a case report].
Recent recommendations from the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults, considered that an increase in serum… Expand
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Adherence and long-term outcomes of growth hormone therapy with easypod™ in pediatric subjects: Spanish ECOS study
Background Non-adherence to r-hGH treatments occurs in a variable percentage of subjects. One problem found when evaluating adherence is the great variability in methods of detection and definitions… Expand
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[Increased lipoprotein(a) in a paediatric patient associated with nephrotic syndrome].
A common complication in paediatric patients with nephrotic syndrome (NS) is hyperlipidaemia. About 20% of children do not respond to treatment with corticosteroids, presenting with a… Expand
[Management guidelines for disorders / different sex development (DSD)].
Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a… Expand
[Hypochondroplasia due to the N540K mutation].
Sexual differentiation anomalies. XX male syndrome.
The XX male syndrome was first described in 1964 by De la Chapelle, who called it ‘‘sex inversion in women’’. This author reported patients with male phenotype and psychosexual identification in whom… Expand