We describe the performance of a new, self-assessment questionnaire that aims to measure pubertal status by using gender-specific line drawings of the Tanner puberty stages. The study was carried out on 103 children aged 12-16 years attending a paediatric endocrinology outpatient clinic and used physical examination by clinic doctors as the 'gold standard'. Of 133 consecutive, eligible children, 108 (81%) agreed to participate in the study. Data were collected from 62 (60%) males and 41 (40%) females. Mean age was 14.78 years (SD = 1.26 years, range 12.08-16.98 years). For the pubic hair distribution Tanner stage, there was agreement to within one Tanner stage for 90 children (88%), weighted kappa statistic for inter-rater agreement = 0.68 [95% CI 0.49,0.87]. For the female breast/male genitalia Tanner stage, there was agreement to within one Tanner stage for 75 children (76%), kappa = 0.48 [95% CI 0.31,0.64]. The children tended to underestimate their stage of pubertal development. Overall, the kappa statistics implied good agreement for the pubic hair question and moderate agreement for the breast/genitalia stage question in both girls and boys. The questionnaire may prove useful in situations such as large-scale epidemiological studies, in which direct examination of children to determine pubertal status is not possible, and further validation in normal adolescents is warranted.
PC, Beddington RSP, Robinson ICAF. HESXI: a novel gene implicated in a familial form of septo-optic dysplasia. Acta Pzediatr 1999; Suppl 433: 49-54. Stockholm. ISSN 0803-5326The homeobox gene Hesxl, which encodes a pituitary transcription factor, is first expressed at gastrulation in the mouse embryo. Hesxl expression begins in prospective forebrain tissue but later becomes restricted to Rathke's pouch, the primordium of the anterior pituitary gland. Transgenic mice lacking Hesxl exhibit a phenotype comprising variable anterior CNS defects, such as a reduced prosencephalon, abnormalities in the corpus callosum and septum pellucidum, anophthalmia or microphthalmia, defective olfactory development and bifurcations in Rathke's pouch with pituitary dysplasia. A comparable and highly variable phenotype in humans is septo-optic dysplasia. We have cloned and sequenced the human homologue HESXI and screened for mutations in affected individuals using single-stranded conformational polymorphism analysis. Two siblings with septo-optic dysplasia were homozygous for a missense mutation within the HESXl homeobox. This mutation resulted in the substitution of a highly conserved arginine residue (Arg53) by cysteine and led to a loss of in vitro DNA binding. Hence, a vital role for Hesxl/HESXI in forebrain and pituitary development in mice and humans is suggested. 0 HESXl gene, homeobox, horneodomain, missense mutation, pituitary, Rathke 's pouch, septo-optic dysplasia MT Dattani,
The safety profile and observed high acceptability of products containing desogestrel or gestodene allow their continued use, subject to thorough, unbiased counselling in the context of all the recent studies and the letter from the Committee on Safety of Medicines.10 The faculty is committed to developing evidence based guidelines, and until further data are available it endorses the guidelines given in the box. A M MILLS (chair, clinical and scientific committee), C L WILKINSON (secretary), D R BROMHAM (committee member), J ELIAS (committee member), K FOTHERBY
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