AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

CPP is a rare disease whose risk markedly increases with both national and international adoption but is not influenced by immigration. These results suggest a psychological influence on CPP.

This work addresses the preparation and application of the synthesis of graphene in Ni-Cu catalysts supported on carbonaceous materials. The catalysts have been prepared by a biomorphic mineralization technique which involves the thermal decomposition, under reductive atmosphere, of commercial cellulose previously impregnated with the metallic precursors. The characterization results indicate that the preparation method leads to the formation of carbonaceous supports with a moderate microporosity (ca. 33% pore volume) and adequate surface area (343 m 2 /g), maintaining the original external texture. The catalytic performance of these materials was previously tested in liquid phase reactions [11]. In order to extend the use of these catalysts, in this work we present a study corresponding to a gas phase reaction: the synthesis of graphenic nanomaterials by catalytic decomposition of methane (CDM). The influence of the reaction temperature and of the feed composition (i.e. %CH 4 and %H 2) has been studied. The graphenic nanomaterials obtained after reaction were characterized by nitrogen adsorption-desorption isotherms, Raman spectroscopy and transmission electron microscopy (TEM). The results indicate that the carbonaceous nanomaterial with the highest quality is obtained operating at 950 °C and feeding 28.6% of CH 4 and 14.3% of H 2. The evolution of the carbon mass during the reaction time was analysed using a phenomenological kinetic model that takes into account the main stages involved during the formation of carbonaceous nanomaterials (NCMs). The results obtained from the kinetic model along with the characterization results enable the influence of the operating variables on each stage of the carbonaceous nanomaterial formation to be discerned.

Our data might contribute to better clinical evaluation of pubertal growth according to individual pubertal maturity tempo.