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.

Our results show a novel missense mutation in the IGF1R gene (c.A1549T, p.Y487F) associated with prenatal and postnatal growth failure and microcephaly in the context of familial short stature. The functional studies are in line with the inactivation of one copy of the IGF1R gene with variable expression within the same family.

No abstract

During pregnancy, changes in the IGF axis are associated with changes in maternal metabolism and nutrient repartitioning which are necessary to meet the demands of a growing conceptus. The aim of this study was to assess the IGF axis, maternal weight changes and food intake in female New Zealand White rabbits (n = 7) prior to breeding (day 0) and serially throughout pregnancy until term (day 30-31). The total weight of the pregnant does progressively increased from 4.03 +/- 0.06 kg (mean +/- S.E.M.) on day 0 to 4.47 +/- 0.07 kg on day 30 (P < 0.001). Maternal tissue mass (total weight minus estimated conceptus weight) increased until day 18, plateaued to day 22/23, and then significantly declined. On day 30, the maternal tissue mass was not significantly different from the non-pregnant value, such that the final increase in total weight was due to conceptus growth. Although the does were fed ad libitum, food intake did not change until day 29 when it decreased to approximately 50% of previous intake (P < 0.01). Maternal serum IGF-I was 499 +/- 32 ng/ml on day 0, reached a peak of 832 +/- 160 ng/ml on day 21 (P < 0.02), and then declined to 341 +/- 49 ng/ml on day 30. In contrast, serum IGF-II increased dramatically from a non-pregnant level of 85 +/- 14 ng/ml to 16,295 +/- 2488 ng/ml on day 23 (P < 0.001), and then rapidly declined (3335 +/- 954 ng/ml, day 30). Changes in serum IGF-binding proteins (IGFBPs) followed a pattern similar to IGF-II, as assessed by Western-ligand blotting. All IGFBPs, especially the 45-40 kDa IGFBP-3 doublet, increased dramatically between days 12 and 24 of pregnancy, and then declined towards term. In conclusion, we observed unique and dramatic changes in the maternal serum IGF axis that corresponded to periods of maternal weight gain and loss. The tissue source of IGFs and IGFBPs remains undetermined, although it is of note that the time when major changes in the IGF axis were first observed coincided with the time of functional change from yolk sac to placenta in the rabbit.

Context: Oestrogen induction of pubertal changes in Turner girls may reinforce their psychological well-being and may also optimise final height; however, oestrogen type, dose, and route are not well established. Objective: To induce normal pubertal development in Turner girls and ovarian insufficiency with oral 17b-oestradiol (E 2 ), either as individualised dose (ID) or as fixed dose (FD), and to determine whether growth is affected. Design: Open-label randomised, parallel groups, multicentre clinical trial in 48 GH-treated Turner girls. Oral E 2 was given in tablets, either as an ID of 5-15 mg/kg per day during 2 years or as a FD of 0.2 mg daily during the first year followed by 0.5 mg daily during the second year. Main outcome measures were the event of attaining a Tanner breast staging R4 (primary), FSH, and auxological variables (secondary). Results: Shorter median time to Tanner staging R B4 in the FD group (733 days) compared with the ID group (818 days) (PZ0.046). Higher proportion of girls with Tanner staging R B4 (65%) in the FD group compared with the ID group (42%) (PZ0.068). Bone age did not show inadequate acceleration and adult height prediction was maintained in both groups. No oestrogen-related adverse events were reported. Conclusions: Two-year treatment with oral E 2 can progressively induce normal pubertal development in Turner syndrome. Low-dose oral E 2 given as a FD produces a satisfactory pubertal development not inferior to ID. Treatment was well tolerated and did not interfere with the growth-promoting effect of GH.